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Cellular Component
Molecular Function
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Analyze GeneStrainQTL List |
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Gene Annotator (Annotation Comparison) |
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MOET (Multi-Ontology Enrichement) |
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Cellular Component
Molecular Function
Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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References - curated| 1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 2. | RGD automated import pipeline for gene-chemical interactions |
References - uncuratedGenomics
Comparative Map Data| HMCN2 (Homo sapiens - human) |
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| Hmcn2 (Mus musculus - house mouse) |
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| Hmcn2 (Rattus norvegicus - Norway rat) |
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| Hmcn2 (Chinchilla lanigera - long-tailed chinchilla) |
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| HMCN2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| HMCN2 (Canis lupus familiaris - dog) |
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| Hmcn2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| HMCN2 (Sus scrofa - pig) |
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Position Markers| SHGC-147269 |
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| SHGC-147754 |
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| SHGC-153301 |
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| D1S3693 |
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| D15S1477 |
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miRNA Target Status
Predicted Target Of
| 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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Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001291815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_011518465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518470 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | ABBA01012042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| ABBA01043973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK074396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK093583 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK128020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK128680 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL354898 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL360004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL834139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AUXG01000072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC146865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FP565345 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF458942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001291815 ⟹ NP_001278744 | ||||||||||||||
| RefSeq Status: | INFERRED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
ATGATGCCCGGGGCGCCGCTCCTGCGGCTGCTGACCGCGGTCTCTGCGGCAGTGGCAGTGGCAGhide sequence |
| RefSeq Acc Id: | XM_011518465 ⟹ XP_011516767 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGCGCCCCTATCCCTCGCGCACTGGCCGCGGCCCGACGGAGCAAGGCACTGCCTGCAGCCGCCGhide sequence |
| RefSeq Acc Id: | XM_011518466 ⟹ XP_011516768 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGCGCCCCTATCCCTCGCGCACTGGCCGCGGCCCGACGGAGCAAGGCACTGCCTGCAGCCGCCGhide sequence |
| RefSeq Acc Id: | XM_011518467 ⟹ XP_011516769 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGCGCCCCTATCCCTCGCGCACTGGCCGCGGCCCGACGGAGCAAGGCACTGCCTGCAGCCGCCGhide sequence |
| RefSeq Acc Id: | XM_011518468 ⟹ XP_011516770 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGCGCCCCTATCCCTCGCGCACTGGCCGCGGCCCGACGGAGCAAGGCACTGCCTGCAGCCGCCGhide sequence |
| RefSeq Acc Id: | XM_011518469 ⟹ XP_011516771 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGCGCCCCTATCCCTCGCGCACTGGCCGCGGCCCGACGGAGCAAGGCACTGCCTGCAGCCGCCGhide sequence |
| RefSeq Acc Id: | XM_011518470 ⟹ XP_011516772 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGCGCCCCTATCCCTCGCGCACTGGCCGCGGCCCGACGGAGCAAGGCACTGCCTGCAGCCGCCGhide sequence |
| RefSeq Acc Id: | XM_017014585 ⟹ XP_016870074 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACAAGCCAGTGTGGTGAAGGCTTTGATGGCAGGATGTTCAGGAAGCTGTGGGAGCCTACAGGAThide sequence |
| RefSeq Acc Id: | XM_017014586 ⟹ XP_016870075 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GGACAATCGAAAGTGGAAGGGGGCAAATATTTTTGACACCACTAAGACTGCCTGCCTCTCATCAhide sequence |
Protein Sequences| Protein RefSeqs | NP_001278744 | (Get FASTA) | NCBI Sequence Viewer |
| XP_011516767 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516768 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516769 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516770 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516771 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516772 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870074 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870075 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAI46866 | (Get FASTA) | NCBI Sequence Viewer |
| BAB85069 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC04201 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC87234 | (Get FASTA) | NCBI Sequence Viewer | |
| CAD38854 | (Get FASTA) | NCBI Sequence Viewer | |
| Q8NDA2 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001278744 ⟸ NM_001291815 |
| - Peptide Label: | precursor |
| - Sequence: |
MMPGAPLLRLLTAVSAAVAVAVAGAPGTVMPPTTGDATLAFVFDVTGSMWDELMQVIDGASRILhide sequence |
| RefSeq Acc Id: | XP_011516771 ⟸ XM_011518469 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MMPGAPLLRLLTAVSAAVAVAVAGAPGTVMPPTTGDATLAFVFDVTGSMWDELMQVIDGASRILhide sequence |
| RefSeq Acc Id: | XP_011516772 ⟸ XM_011518470 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MMPGAPLLRLLTAVSAAVAVAVAGAPGTVMPPTTGDATLAFVFDVTGSMWDELMQVIDGASRILhide sequence |
| RefSeq Acc Id: | XP_011516768 ⟸ XM_011518466 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MMPGAPLLRLLTAVSAAVAVAVAGAPGTVMPPTTGDATLAFVFDVTGSMWDELMQVIDGASRILhide sequence |
| RefSeq Acc Id: | XP_011516767 ⟸ XM_011518465 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MMPGAPLLRLLTAVSAAVAVAVAGAPGTVMPPTTGDATLAFVFDVTGSMWDELMQVIDGASRILhide sequence |
| RefSeq Acc Id: | XP_011516769 ⟸ XM_011518467 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MMPGAPLLRLLTAVSAAVAVAVAGAPGTVMPPTTGDATLAFVFDVTGSMWDELMQVIDGASRILhide sequence |
| RefSeq Acc Id: | XP_011516770 ⟸ XM_011518468 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MMPGAPLLRLLTAVSAAVAVAVAGAPGTVMPPTTGDATLAFVFDVTGSMWDELMQVIDGASRILhide sequence |
| RefSeq Acc Id: | XP_016870074 ⟸ XM_017014585 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MAGCSGSCGSLQDGPTSLGHQVSLPGGGDVSVLEDESSIIQVNGKCRYGLLPSGSLRLAQVQVGhide sequence |
| RefSeq Acc Id: | XP_016870075 ⟸ XM_017014586 |
| - Peptide Label: | isoform X8 |
| - Sequence: |
MCNVTGHPQPKLTWFKDGRPLARGDAHHISPDGVLLQVLQANLSSAGHYSCIAANAVGEKTKHFhide sequence |
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| 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 9q34.11(chr9:127874581-130421811)x1 | copy number loss | Global developmental delay [RCV000052934]|See cases [RCV000052934] | Chr9:127874581..130421811 [GRCh38] Chr9:130636860..133297198 [GRCh37] Chr9:129676681..132287019 [NCBI36] Chr9:9q34.11 |
pathogenic |
| GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1 | copy number loss | Abnormality of the midface [RCV000052935]|See cases [RCV000052935] | Chr9:129949815..132342490 [GRCh38] Chr9:132712094..135217877 [GRCh37] Chr9:131751915..134207698 [NCBI36] Chr9:9q34.11-34.13 |
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(chr9:193412-138114463)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 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 9q34.11(chr9:129036400-130578683)x3 | copy number gain | Macrotia [RCV000053778]|See cases [RCV000053778] | Chr9:129036400..130578683 [GRCh38] Chr9:131798679..133454070 [GRCh37] Chr9:130838500..132443891 [NCBI36] Chr9:9q34.11 |
pathogenic |
| NC_000009.12:g.130433393C>A | single nucleotide variant | Malignant melanoma [RCV000068558] | Chr9:130433393 [GRCh38] Chr9:133308780 [GRCh37] Chr9:132298601 [NCBI36] Chr9:9q34.11 |
not provided |
| 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(chr9:129068560-138179445)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 9q34.11-34.12(chr9:128839676-130912873)x3 | copy number gain | See cases [RCV000137775] | Chr9:128839676..130912873 [GRCh38] Chr9:131601955..133788260 [GRCh37] Chr9:130641776..132778081 [NCBI36] Chr9:9q34.11-34.12 |
uncertain significance |
| 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 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 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 |
| 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 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 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 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 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 9q33.3-34.12(chr9:129370440-133866894)x1 | copy number loss | not provided [RCV000748671] | Chr9:129370440..133866894 [GRCh37] Chr9:9q33.3-34.12 |
pathogenic |
| GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1 | copy number loss | not provided [RCV000748699] | Chr9:131413885..133866894 [GRCh37] Chr9:9q34.11-34.12 |
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 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 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 9q34.11-34.13(chr9:131670024-134514071) | copy number loss | not provided [RCV000767561] | Chr9:131670024..134514071 [GRCh37] Chr9:9q34.11-34.13 |
likely pathogenic |
| GRCh37/hg19 9q34.11(chr9:132183626-133431092)x3 | copy number gain | not provided [RCV000848121] | Chr9:132183626..133431092 [GRCh37] Chr9:9q34.11 |
uncertain significance |
| 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 9q34.11-34.12(chr9:133276056-133851405)x1 | copy number loss | not provided [RCV000849508] | Chr9:133276056..133851405 [GRCh37] Chr9:9q34.11-34.12 |
uncertain significance |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:21293 | AgrOrtholog |
| COSMIC | HMCN2 | COSMIC |
| Ensembl Genes | ENSG00000148357 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000387564 | UniProtKB/TrEMBL |
| ENSP00000481543 | UniProtKB/TrEMBL | |
| ENSP00000485357 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000485578 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000428715 | UniProtKB/TrEMBL |
| ENST00000487727 | UniProtKB/TrEMBL | |
| ENST00000611173 | UniProtKB/TrEMBL | |
| ENST00000624552 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot |
| 3.40.50.410 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000148357 | GTEx |
| HGNC ID | HGNC:21293 | ENTREZGENE |
| Human Proteome Map | HMCN2 | Human Proteome Map |
| InterPro | cEGF | UniProtKB/Swiss-Prot |
| EGF-like_Ca-bd_dom | UniProtKB/Swiss-Prot | |
| EGF-like_CS | UniProtKB/Swiss-Prot | |
| EGF-like_dom | UniProtKB/Swiss-Prot | |
| EGF-type_Asp/Asn_hydroxyl_site | UniProtKB/Swiss-Prot | |
| EGF_Ca-bd_CS | UniProtKB/Swiss-Prot | |
| G2_nidogen/fibulin_G2F | UniProtKB/Swiss-Prot | |
| GFP | UniProtKB/Swiss-Prot | |
| Growth_fac_rcpt_cys_sf | UniProtKB/Swiss-Prot | |
| Hemicentin-2 | UniProtKB/Swiss-Prot | |
| Ig-like_dom | UniProtKB/Swiss-Prot | |
| Ig-like_dom_sf | UniProtKB/Swiss-Prot | |
| Ig-like_fold | UniProtKB/Swiss-Prot | |
| Ig_I-set | UniProtKB/Swiss-Prot | |
| Ig_sub | UniProtKB/Swiss-Prot | |
| Ig_sub2 | UniProtKB/Swiss-Prot | |
| Ig_V-set | UniProtKB/Swiss-Prot | |
| Neural_cell_adh | UniProtKB/TrEMBL | |
| vWFA_dom_sf | UniProtKB/Swiss-Prot | |
| NCBI Gene | 256158 | ENTREZGENE |
| PANTHER | PTHR45889:SF4 | UniProtKB/Swiss-Prot |
| Pfam | cEGF | UniProtKB/Swiss-Prot |
| EGF_CA | UniProtKB/Swiss-Prot | |
| G2F | UniProtKB/Swiss-Prot | |
| I-set | UniProtKB/Swiss-Prot | |
| PharmGKB | PA142671680 | PharmGKB |
| PRINTS | NCAMFAMILY | UniProtKB/TrEMBL |
| PROSITE | ASX_HYDROXYL | UniProtKB/Swiss-Prot |
| EGF_2 | UniProtKB/Swiss-Prot | |
| EGF_3 | UniProtKB/Swiss-Prot | |
| EGF_CA | UniProtKB/Swiss-Prot | |
| IG_LIKE | UniProtKB/Swiss-Prot | |
| NIDOGEN_G2 | UniProtKB/Swiss-Prot | |
| SMART | EGF | UniProtKB/Swiss-Prot |
| EGF_CA | UniProtKB/Swiss-Prot | |
| G2F | UniProtKB/Swiss-Prot | |
| IGc2 | UniProtKB/Swiss-Prot | |
| IGv | UniProtKB/Swiss-Prot | |
| SM00409 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot |
| SSF53300 | UniProtKB/Swiss-Prot | |
| SSF54511 | UniProtKB/Swiss-Prot | |
| SSF57184 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.32194 | ENTREZGENE |
| Hs.512559 | ENTREZGENE | |
| UniProt | A0A087WY63_HUMAN | UniProtKB/TrEMBL |
| A0A096LPG1_HUMAN | UniProtKB/TrEMBL | |
| B9EJB7_HUMAN | UniProtKB/TrEMBL | |
| H0Y3X1_HUMAN | UniProtKB/TrEMBL | |
| HMCN2_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | A0A096LP30 | UniProtKB/Swiss-Prot |
| Q8N225 | UniProtKB/Swiss-Prot | |
| Q8TCI8 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-04-19 | HMCN2 | hemicentin 2 | LOC392395 | similar to hemicentin | Data Merged | 737654 | PROVISIONAL |
 |
| More on HMCN2 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1626387 |
| Created: | 2007-08-03 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
