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Analyze GeneStrainQTL List |
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Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| atrial fibrillation | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:29892015, PMID:30061737 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Phenotype Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | OMIM Disease Annotation Pipeline |
| 3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | RGD automated import pipeline for gene-chemical interactions |
| 5. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 7626792 7665181 8889548 9452425 10431247 10593900 10598593 10717474 10788441 10818088 10835633 10903894 11470784 11882901 12477932 12642495 14646405 14714741 15271874 15517599 15567726 15865204 16179410 16394081 16613990 17327381 18407919 18583962 19126629 19274049 20189936 20534763 21249393 21697133 21873635 22194342 22238406 22286346 22503243 23408906 23766128 24100213 25399296 25500790 26612202 28731174 28734020 |
Comparative Map Data| LHX3 (Homo sapiens - human) |
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| Lhx3 (Mus musculus - house mouse) |
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| Lhx3 (Rattus norvegicus - Norway rat) |
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| Lhx3 (Chinchilla lanigera - long-tailed chinchilla) |
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| LHX3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| LHX3 (Canis lupus familiaris - dog) |
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| Lhx3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| LHX3 (Sus scrofa - pig) |
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Position Markers| WI-14818 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Nucleotide Sequences| RefSeq Transcripts | NG_008097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001363746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_014564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_178138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017015168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB593062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AB593063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB593064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB593065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB593066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB593067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF096169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF156888 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF156889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF214637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AH008761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AH009231 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AH009793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AH011178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL138781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM665174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM799949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BU165468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CK300529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KT584259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001363746 ⟹ NP_001350675 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_014564 ⟹ NP_055379 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGGGCGGCCCGCGGGCGCAGCGCCCAGCAGCACCCGGAGTCGCTTGGACGCCGGTTCGGGGCTAhide sequence |
| RefSeq Acc Id: | NM_178138 ⟹ NP_835258 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
CAGTGGCTCCCGGGCTCCCTGCCCCGCACGACGCGGCGGGACTTGGGAGCCCCGAACCCTCCAGhide sequence |
| RefSeq Acc Id: | XM_017015168 ⟹ XP_016870657 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATGCAGCAGATCCCGCTGTGCGCTGGCTGTGACCAGCACATCCTGGACCGCTTCATCCTCAAGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001350675 | (Get FASTA) | NCBI Sequence Viewer |
| NP_055379 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_835258 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870657 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF17291 | (Get FASTA) | NCBI Sequence Viewer |
| AAF17292 | (Get FASTA) | NCBI Sequence Viewer | |
| AAF26412 | (Get FASTA) | NCBI Sequence Viewer | |
| AAF36808 | (Get FASTA) | NCBI Sequence Viewer | |
| AAF36809 | (Get FASTA) | NCBI Sequence Viewer | |
| AAG10399 | (Get FASTA) | NCBI Sequence Viewer | |
| AAL26314 | (Get FASTA) | NCBI Sequence Viewer | |
| BAJ84009 | (Get FASTA) | NCBI Sequence Viewer | |
| BAJ84010 | (Get FASTA) | NCBI Sequence Viewer | |
| BAJ84011 | (Get FASTA) | NCBI Sequence Viewer | |
| BAJ84012 | (Get FASTA) | NCBI Sequence Viewer | |
| BAJ84013 | (Get FASTA) | NCBI Sequence Viewer | |
| BAJ84014 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88205 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88206 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9UBR4 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_835258 ⟸ NM_178138 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q9UBR4 (UniProtKB/Swiss-Prot), F1T0D5 (UniProtKB/TrEMBL) |
| - Sequence: |
MLLETGLERDRARPGAAAVCTLGGTREIPLCAGCDQHILDRFILKALDRHWHSKCLKCSDCHTPhide sequence |
| RefSeq Acc Id: | NP_055379 ⟸ NM_014564 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q9UBR4 (UniProtKB/Swiss-Prot), F1T0D9 (UniProtKB/TrEMBL) |
| - Sequence: |
MEARGELGPARESAGGDLLLALLARRADLRREIPLCAGCDQHILDRFILKALDRHWHSKCLKCShide sequence |
| RefSeq Acc Id: | XP_016870657 ⟸ XM_017015168 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MQQIPLCAGCDQHILDRFILKALDRHWHSKCLKCSDCHTPLAERCFSRGESVYCKDDFFKRFGThide sequence |
| RefSeq Acc Id: | NP_001350675 ⟸ NM_001363746 |
| - Peptide Label: | isoform c |
Promoters| RGD ID: | 7216631 | |||||||||
| Promoter ID: | EPDNEW_H14061 | |||||||||
| Type: | initiation region | |||||||||
| Name: | LHX3_2 | |||||||||
| Description: | LIM homeobox 3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216633 | |||||||||
| Promoter ID: | EPDNEW_H14062 | |||||||||
| Type: | initiation region | |||||||||
| Name: | LHX3_1 | |||||||||
| Description: | LIM homeobox 3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6807840 | |||||||||
| Promoter ID: | HG_KWN:65571 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid | |||||||||
| Transcripts: | NM_178138 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_178138.6(LHX3):c.112A>G (p.Ile38Val) | single nucleotide variant | Pituitary hormone deficiency, combined 3 [RCV000723285] | Chr9:136200721 [GRCh38] Chr9:139092567 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys) | single nucleotide variant | Pituitary hormone deficiency, combined 3 [RCV000009587] | Chr9:136199800 [GRCh38] Chr9:139091646 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.452_454+20del | deletion | Pituitary hormone deficiency, combined 3 [RCV000009588] | Chr9:136199658..136199680 [GRCh38] Chr9:139091504..139091526 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.96del (p.Gly33fs) | deletion | Pituitary hormone deficiency, combined 3 [RCV000009589] | Chr9:136200737 [GRCh38] Chr9:139092583 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.629C>T (p.Ala210Val) | single nucleotide variant | Pituitary hormone deficiency, combined 3 [RCV000009590] | Chr9:136198798 [GRCh38] Chr9:139090644 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.287_288delinsTCCT (p.Gly96fs) | indel | Pituitary hormone deficiency, combined 3 [RCV000009591] | Chr9:136199844..136199845 [GRCh38] Chr9:139091690..139091691 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NC_000009.12:g.(?_136197325)_(136205012_?)del | deletion | Pituitary hormone deficiency, combined 3 [RCV000009592] | Chr9:136197325..136205012 [GRCh38] Chr9:9q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.672G>A (p.Trp224Ter) | single nucleotide variant | Pituitary hormone deficiency, combined 3 [RCV000009593] | Chr9:136198755 [GRCh38] Chr9:139090601 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.80-530_776-454del | deletion | Pituitary hormone deficiency, combined 3 [RCV000009594] | Chr9:136198198..136201284 [GRCh38] Chr9:139090048..139093134 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.133A>T (p.Lys45Ter) | single nucleotide variant | Pituitary hormone deficiency, combined 3 [RCV000009595] | Chr9:136200700 [GRCh38] Chr9:139092546 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 | copy number loss | Talipes equinovarus [RCV000052936]|See cases [RCV000052936] | Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052937]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052937]|See cases [RCV000052937] | Chr9:135452016..137613738 [GRCh38] Chr9:138343862..140508190 [GRCh37] Chr9:137483683..139628011 [NCBI36] Chr9:9q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.79+1975G>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000319285]|not specified [RCV000173438] | Chr9:136202959 [GRCh38] Chr9:139094805 [GRCh37] Chr9:9q34.3 |
benign|likely benign |
| NM_178138.6(LHX3):c.79+2007T>C | single nucleotide variant | not specified [RCV000173439] | Chr9:136202927 [GRCh38] Chr9:139094773 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] | Chr9:136015976..138124532 [GRCh38] Chr9:138907822..141018984 [GRCh37] Chr9:138047643..140138805 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|See cases [RCV000053779] | Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053814]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053814]|See cases [RCV000053814] | Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 | copy number gain | See cases [RCV000133778] | Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3 | copy number gain | See cases [RCV000134910] | Chr9:135164984..136437047 [GRCh38] Chr9:138056830..139331499 [GRCh37] Chr9:137196651..138451320 [NCBI36] Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 | copy number gain | See cases [RCV000134916] | Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 | copy number gain | See cases [RCV000136790] | Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 | copy number gain | See cases [RCV000137825] | Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 | copy number gain | See cases [RCV000139807] | Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 | copy number gain | See cases [RCV000142955] | Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 | copy number gain | See cases [RCV000142636] | Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 | copy number gain | See cases [RCV000143394] | Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3 |
likely pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000391104]|not specified [RCV000179482] | Chr9:136197590 [GRCh38] Chr9:139089436 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) | single nucleotide variant | not specified [RCV000519548] | Chr9:136197555 [GRCh38] Chr9:139089401 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*825C>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000368070] | Chr9:136196500 [GRCh38] Chr9:139088346 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_178138.6(LHX3):c.454+3C>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000304131]|not specified [RCV000602280] | Chr9:136199675 [GRCh38] Chr9:139091521 [GRCh37] Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_178138.6(LHX3):c.*104del | deletion | Combined Pituitary Hormone Deficiency, Recessive [RCV000371868] | Chr9:136197221 [GRCh38] Chr9:139089067 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_178138.6(LHX3):c.*638G>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000270199] | Chr9:136196687 [GRCh38] Chr9:139088533 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*582G>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000325305] | Chr9:136196743 [GRCh38] Chr9:139088589 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.860C>T (p.Ser287Leu) | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000307500] | Chr9:136197659 [GRCh38] Chr9:139089505 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*32G>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000350909] | Chr9:136197293 [GRCh38] Chr9:139089139 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*790C>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000310086] | Chr9:136196535 [GRCh38] Chr9:139088381 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.79+1967C>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000356105] | Chr9:136202967 [GRCh38] Chr9:139094813 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*1031A>G | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000334275] | Chr9:136196294 [GRCh38] Chr9:139088140 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.441C>T (p.Thr147=) | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000358940] | Chr9:136199691 [GRCh38] Chr9:139091537 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*55G>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000296177] | Chr9:136197270 [GRCh38] Chr9:139089116 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.776-15C>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000362167] | Chr9:136197758 [GRCh38] Chr9:139089604 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.145C>T (p.Arg49Cys) | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000264184] | Chr9:136200688 [GRCh38] Chr9:139092534 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*185T>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000280927] | Chr9:136197140 [GRCh38] Chr9:139088986 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_178138.6(LHX3):c.79+1829G>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000316576] | Chr9:136203105 [GRCh38] Chr9:139094951 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.79+1814G>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000389808] | Chr9:136203120 [GRCh38] Chr9:139094966 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*9C>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000390232] | Chr9:136197316 [GRCh38] Chr9:139089162 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*773G>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000364718] | Chr9:136196552 [GRCh38] Chr9:139088398 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*791G>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000390822] | Chr9:136196534 [GRCh38] Chr9:139088380 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.79+1862A>G | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000261280] | Chr9:136203072 [GRCh38] Chr9:139094918 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.198C>G (p.Ala66=) | single nucleotide variant | not specified [RCV000385783] | Chr9:136200635 [GRCh38] Chr9:139092481 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.1161C>T (p.Ser387=) | single nucleotide variant | not specified [RCV000315911] | Chr9:136197358 [GRCh38] Chr9:139089204 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.80-10G>A | single nucleotide variant | not specified [RCV000354767] | Chr9:136200763 [GRCh38] Chr9:139092609 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.79+1813G>C | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000276382] | Chr9:136203121 [GRCh38] Chr9:139094967 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.79+1902C>T | single nucleotide variant | Pituitary hormone deficiency, combined 3 [RCV000766052]|not specified [RCV000394393] | Chr9:136203032 [GRCh38] Chr9:139094878 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*501A>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000266954] | Chr9:136196824 [GRCh38] Chr9:139088670 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.775+6C>T | single nucleotide variant | not specified [RCV000263570] | Chr9:136198646 [GRCh38] Chr9:139090492 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) | single nucleotide variant | Pituitary hormone deficiency, combined 3 [RCV000766051]|not specified [RCV000302742] | Chr9:136197599 [GRCh38] Chr9:139089445 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*554C>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000361374] | Chr9:136196771 [GRCh38] Chr9:139088617 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.1092C>T (p.Asn364=) | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000292515] | Chr9:136197427 [GRCh38] Chr9:139089273 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*161C>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000317332] | Chr9:136197164 [GRCh38] Chr9:139089010 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.946G>C (p.Gly316Arg) | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000347483] | Chr9:136197573 [GRCh38] Chr9:139089419 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*409G>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000322062] | Chr9:136196916 [GRCh38] Chr9:139088762 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*956C>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000408118] | Chr9:136196369 [GRCh38] Chr9:139088215 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.-40A>C | single nucleotide variant | not specified [RCV000603734] | Chr9:136205052 [GRCh38] Chr9:139096898 [GRCh37] Chr9:9q34.3 |
benign |
| NM_178138.6(LHX3):c.737A>G (p.Gln246Arg) | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000391108] | Chr9:136198690 [GRCh38] Chr9:139090536 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*357G>A | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000376654] | Chr9:136196968 [GRCh38] Chr9:139088814 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_178138.6(LHX3):c.*857C>T | single nucleotide variant | Combined Pituitary Hormone Deficiency, Recessive [RCV000313493] | Chr9:136196468 [GRCh38] Chr9:139088314 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
| NM_178138.6(LHX3):c.309G>T (p.Val103=) | single nucleotide variant | Pituitary hormone deficiency, combined 1 [RCV000581445] | Chr9:136199823 [GRCh38] Chr9:139091669 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_178138.6(LHX3):c.281A>T (p.Gln94Leu) | single nucleotide variant | Pituitary hormone deficiency, combined 1 [RCV000583731] | Chr9:136199851 [GRCh38] Chr9:139091697 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139092414-139137359)x3 | copy number gain | See cases [RCV000447591] | Chr9:139092414..139137359 [GRCh37] Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 | copy number loss | See cases [RCV000446074] | Chr9:138222049..141018925 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
| NM_178138.6(LHX3):c.872del (p.Gly291fs) | deletion | not specified [RCV000484284] | Chr9:136197647 [GRCh38] Chr9:139089493 [GRCh37] Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 | copy number loss | See cases [RCV000510584] | Chr9:138209358..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 | copy number gain | See cases [RCV000511188] | Chr9:138275621..141020389 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
| NM_178138.6(LHX3):c.252-4G>T | single nucleotide variant | not specified [RCV000603094] | Chr9:136199884 [GRCh38] Chr9:139091730 [GRCh37] Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 | copy number loss | mTOR Inhibitor response [RCV000626442] | Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3 |
drug response |
| NM_178138.6(LHX3):c.108G>A (p.Gln36=) | single nucleotide variant | not specified [RCV000613792] | Chr9:136200725 [GRCh38] Chr9:139092571 [GRCh37] Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 | copy number gain | not provided [RCV000683160] | Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139089445-139295282)x3 | copy number gain | not provided [RCV000749810] | Chr9:139089445..139295282 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 | copy number loss | not provided [RCV000748787] | Chr9:137816459..141114095 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NC_000009.11:g.(?_138683633)_(139440248_?)del | deletion | Adams-Oliver syndrome 5 [RCV000793489] | Chr9:138683633..139440248 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_178138.6(LHX3):c.251+10G>A | single nucleotide variant | not provided [RCV000838598] | Chr9:136200572 [GRCh38] Chr9:139092418 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_178138.6(LHX3):c.79+1933G>C | single nucleotide variant | not provided [RCV000828261] | Chr9:136203001 [GRCh38] Chr9:139094847 [GRCh37] Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_138683633)_(139440248_?)dup | duplication | Adams-Oliver syndrome 5 [RCV000811364] | Chr9:138683633..139440248 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_138594085)_(139440258_?)dup | duplication | Early infantile epileptic encephalopathy 14 [RCV000817958] | Chr9:138594085..139440258 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.136205131G>A | single nucleotide variant | not provided [RCV000843312] | Chr9:136205131 [GRCh38] Chr9:139096977 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_178138.6(LHX3):c.455-97G>C | single nucleotide variant | not provided [RCV000844277] | Chr9:136199156 [GRCh38] Chr9:139091002 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:6595 | AgrOrtholog |
| COSMIC | LHX3 | COSMIC |
| Ensembl Genes | ENSG00000107187 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000360811 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000360813 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000483080 | ENTREZGENE, UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000371746 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000371748 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000619587 | ENTREZGENE, UniProtKB/TrEMBL | |
| GTEx | ENSG00000107187 | GTEx |
| HGNC ID | HGNC:6595 | ENTREZGENE |
| Human Proteome Map | LHX3 | Human Proteome Map |
| InterPro | Homeobox-like_sf | UniProtKB/Swiss-Prot |
| Homeobox_CS | UniProtKB/Swiss-Prot | |
| Homeobox_dom | UniProtKB/Swiss-Prot | |
| Znf_LIM | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:8022 | UniProtKB/Swiss-Prot |
| NCBI Gene | 8022 | ENTREZGENE |
| OMIM | 221750 | OMIM |
| 600577 | OMIM | |
| Pfam | Homeodomain | UniProtKB/Swiss-Prot |
| LIM | UniProtKB/Swiss-Prot | |
| PharmGKB | PA30366 | PharmGKB |
| PROSITE | HOMEOBOX_1 | UniProtKB/Swiss-Prot |
| HOMEOBOX_2 | UniProtKB/Swiss-Prot | |
| LIM_DOMAIN_1 | UniProtKB/Swiss-Prot | |
| LIM_DOMAIN_2 | UniProtKB/Swiss-Prot | |
| SMART | HOX | UniProtKB/Swiss-Prot |
| LIM | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF46689 | UniProtKB/Swiss-Prot |
| UniGene | Hs.148427 | ENTREZGENE |
| UniProt | F1T0D5 | ENTREZGENE, UniProtKB/TrEMBL |
| F1T0D7_HUMAN | UniProtKB/TrEMBL | |
| F1T0D8_HUMAN | UniProtKB/TrEMBL | |
| F1T0D9 | ENTREZGENE, UniProtKB/TrEMBL | |
| LHX3_HUMAN | UniProtKB/Swiss-Prot | |
| Q9HBU2_HUMAN | UniProtKB/TrEMBL | |
| Q9UBR4 | ENTREZGENE | |
| UniProt Secondary | Q5TB39 | UniProtKB/Swiss-Prot |
| Q5TB40 | UniProtKB/Swiss-Prot | |
| Q9NZB5 | UniProtKB/Swiss-Prot | |
| Q9P0I8 | UniProtKB/Swiss-Prot | |
| Q9P0I9 | UniProtKB/Swiss-Prot |
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| More on LHX3 | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1352685 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
