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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | protein transport | | IEA | UniProtKB-KW:KW-0653 | 2290271 | | UniProtKB | GO_REF:0000037 | |
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MAMDC4 (Homo sapiens - human) |
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Mamdc4 (Mus musculus - house mouse) |
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Mamdc4 (Rattus norvegicus - Norway rat) |
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Mamdc4 (Chinchilla lanigera - long-tailed chinchilla) |
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MAMDC4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MAMDC4 (Canis lupus familiaris - dog) |
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Mamdc4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LOC100513261 (Sus scrofa - pig) |
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STS-N90764 |
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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. |
RefSeq Transcripts | NM_206920 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AL137659 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AL355987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL834531 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358419 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF339007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ270782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_206920 ⟹ NP_996803 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
GGAACTTCCCAGGCACCCTGTGTGGCCGCACTGCTCCCTCTGGCCCAACCATGCCTCTGTCCAGhide sequence |
Protein RefSeqs | NP_996803 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAQ88785 | (Get FASTA) | NCBI Sequence Viewer |
CAD39187 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88293 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88294 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88295 | (Get FASTA) | NCBI Sequence Viewer | |
Q6UXC1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_996803 ⟸ NM_206920 |
- Peptide Label: | precursor |
- UniProtKB: | Q6UXC1 (UniProtKB/Swiss-Prot) |
- Sequence: |
MPLSSHLLPALVLFLAGSSGWAWVPNHCRSPGQAVCNFVCDCRDCSDEAQCGYHGASPTLGAPFhide sequence |
RGD ID: | 7216711 | |||||||||
Promoter ID: | EPDNEW_H14102 | |||||||||
Type: | initiation region | |||||||||
Name: | MAMDC4_1 | |||||||||
Description: | MAM domain containing 4 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
Position: |
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RGD ID: | 7216715 | |||||||||
Promoter ID: | EPDNEW_H14103 | |||||||||
Type: | initiation region | |||||||||
Name: | MAMDC4_2 | |||||||||
Description: | MAM domain containing 4 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
Position: |
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RGD ID: | 7216729 | |||||||||
Promoter ID: | EPDNEW_H14104 | |||||||||
Type: | initiation region | |||||||||
Name: | MAMDC4_4 | |||||||||
Description: | MAM domain containing 4 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
Position: |
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RGD ID: | 7216717 | |||||||||
Promoter ID: | EPDNEW_H14105 | |||||||||
Type: | initiation region | |||||||||
Name: | MAMDC4_3 | |||||||||
Description: | MAM domain containing 4 | |||||||||
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: | 6807863 | |||||||||
Promoter ID: | HG_KWN:65644 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | OTTHUMT00000055156 | |||||||||
Position: |
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RGD ID: | 6807862 | |||||||||
Promoter ID: | HG_KWN:65645 | |||||||||
Type: | Non-CpG | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | ENST00000392881, NM_206920 | |||||||||
Position: |
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RGD ID: | 6807864 | |||||||||
Promoter ID: | HG_KWN:65646 | |||||||||
Type: | Non-CpG | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid | |||||||||
Transcripts: | OTTHUMT00000055157 | |||||||||
Position: |
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RGD ID: | 6807866 | |||||||||
Promoter ID: | HG_KWN:65647 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | OTTHUMT00000055159 | |||||||||
Position: |
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RGD ID: | 6807865 | |||||||||
Promoter ID: | HG_KWN:65648 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid | |||||||||
Transcripts: | OTTHUMT00000055158 | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 | copy number loss | Sensorineural hearing loss [RCV000050344]|See cases [RCV000050344] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] 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(chr9:121112395-138075224)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 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 9q34.3(chr9:136323974-138124532)x1 | copy number loss | Intellectual functioning disability [RCV000051116]|See cases [RCV000051116] | Chr9:136323974..138124532 [GRCh38] Chr9:139218428..141018984 [GRCh37] Chr9:138338249..140138805 [NCBI36] Chr9:9q34.3 |
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 |
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 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 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(chr9:193412-138179445)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 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 9q34.11-34.3(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 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 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 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 9q34.3(chr9:136323974-138014606)x1 | copy number loss | See cases [RCV000148284] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3 |
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 |
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 |
GRCh37/hg19 9q34.3(chr9:139699824-139751625)x3 | copy number gain | not provided [RCV000753203] | Chr9:139699824..139751625 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139711726-139756883)x3 | copy number gain | not provided [RCV000753209] | Chr9:139711726..139756883 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139726282-139754427)x3 | copy number gain | not provided [RCV000753212] | Chr9:139726282..139754427 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139728202-139751183)x3 | copy number gain | not provided [RCV000753215] | Chr9:139728202..139751183 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139566910-139751899)x3 | copy number gain | See cases [RCV000449187] | Chr9:139566910..139751899 [GRCh37] Chr9:9q34.3 |
benign |
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 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 9q34.3(chr9:139282807-141020389)x1 | copy number loss | See cases [RCV000448743] | Chr9:139282807..141020389 [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 |
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 |
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 |
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 |
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 9q34.3(chr9:139700656-139749302)x3 | copy number gain | not provided [RCV000753206] | Chr9:139700656..139749302 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139749494-139754361)x3 | copy number gain | not provided [RCV000753221] | Chr9:139749494..139754361 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139751625-139754361)x4 | copy number gain | not provided [RCV000753223] | Chr9:139751625..139754361 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139700608-139754427)x3 | copy number gain | not provided [RCV000753204] | Chr9:139700608..139754427 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139700656-139748282)x3 | copy number gain | not provided [RCV000753205] | Chr9:139700656..139748282 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139728202-139751625)x3 | copy number gain | not provided [RCV000753216] | Chr9:139728202..139751625 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139728202-139754427)x3 | copy number gain | not provided [RCV000753217] | Chr9:139728202..139754427 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139748068-139754427)x3 | copy number gain | not provided [RCV000753218] | Chr9:139748068..139754427 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139749229-139754427)x4 | copy number gain | not provided [RCV000753220] | Chr9:139749229..139754427 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139751640-139756883)x4 | copy number gain | not provided [RCV000753225] | Chr9:139751640..139756883 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139754427-140088630)x3 | copy number gain | not provided [RCV000753226] | Chr9:139754427..140088630 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139754431-140088630)x3 | copy number gain | not provided [RCV000753227] | Chr9:139754431..140088630 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139726282-139749102)x3 | copy number gain | not provided [RCV000753210] | Chr9:139726282..139749102 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139726282-139751625)x3 | copy number gain | not provided [RCV000753211] | Chr9:139726282..139751625 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139751640-139754431)x4 | copy number gain | not provided [RCV000753224] | Chr9:139751640..139754431 [GRCh37] Chr9:9q34.3 |
benign |
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 |
GRCh37/hg19 9q34.3(chr9:139700656-139751183)x3 | copy number gain | not provided [RCV000753207] | Chr9:139700656..139751183 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139700690-139754361)x3 | copy number gain | not provided [RCV000753208] | Chr9:139700690..139754361 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139726282-139754431)x3 | copy number gain | not provided [RCV000753213] | Chr9:139726282..139754431 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139726282-139756883)x3 | copy number gain | not provided [RCV000753214] | Chr9:139726282..139756883 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139748346-139754361)x4 | copy number gain | not provided [RCV000753219] | Chr9:139748346..139754361 [GRCh37] Chr9:9q34.3 |
benign |
GRCh37/hg19 9q34.3(chr9:139749494-139754427)x4 | copy number gain | not provided [RCV000753222] | Chr9:139749494..139754427 [GRCh37] Chr9:9q34.3 |
benign |
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 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 |
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 |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:24083 | AgrOrtholog |
COSMIC | MAMDC4 | COSMIC |
Ensembl Genes | ENSG00000177943 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000319388 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000411339 | UniProtKB/Swiss-Prot | |
ENSP00000435513 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000317446 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000445819 | UniProtKB/Swiss-Prot | |
ENST00000479475 | UniProtKB/TrEMBL | |
Gene3D-CATH | 4.10.400.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000177943 | GTEx |
HGNC ID | HGNC:24083 | ENTREZGENE |
Human Proteome Map | MAMDC4 | Human Proteome Map |
InterPro | ConA-like_dom_sf | UniProtKB/Swiss-Prot |
LDL_receptor-like_sf | UniProtKB/Swiss-Prot | |
LDLR_class-A_CS | UniProtKB/Swiss-Prot | |
LDrepeatLR_classA_rpt | UniProtKB/Swiss-Prot | |
MAM_dom | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:158056 | UniProtKB/Swiss-Prot |
NCBI Gene | 158056 | ENTREZGENE |
OMIM | 617208 | OMIM |
Pfam | Ldl_recept_a | UniProtKB/Swiss-Prot |
MAM | UniProtKB/Swiss-Prot | |
PharmGKB | PA142671487 | PharmGKB |
PRINTS | LDLRECEPTOR | UniProtKB/Swiss-Prot |
PROSITE | LDLRA_1 | UniProtKB/Swiss-Prot |
LDLRA_2 | UniProtKB/Swiss-Prot | |
MAM_2 | UniProtKB/Swiss-Prot | |
SMART | LDLa | UniProtKB/Swiss-Prot |
MAM | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF49899 | UniProtKB/Swiss-Prot |
SSF57424 | UniProtKB/Swiss-Prot | |
UniGene | Hs.376780 | ENTREZGENE |
UniProt | A0A0C4DGF7_HUMAN | UniProtKB/TrEMBL |
AEGP_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | A2A3D4 | UniProtKB/Swiss-Prot |
B0QZ81 | UniProtKB/Swiss-Prot | |
Q5T5S2 | UniProtKB/Swiss-Prot | |
Q8NCX7 | UniProtKB/Swiss-Prot |
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More on MAMDC4 | |
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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: | 1604980 |
Created: | 2007-04-28 |
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.