ENSG00000134762


Homo sapiens

Features
Gene ID: ENSG00000134762
  
Biological name :DSC3
  
Synonyms : desmocollin 3 / DSC3 / Q14574
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: -1
Band: q12.1
Gene start: 30990008
Gene end: 31042815
  
Corresponding Affymetrix probe sets: 206032_at (Human Genome U133 Plus 2.0 Array)   206033_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000392068
Ensembl peptide - ENSP00000353608
Ensembl peptide - ENSP00000464283
NCBI entrez gene - 1825     See in Manteia.
OMIM - 600271
RefSeq - NM_024423
RefSeq - NM_001941
RefSeq Peptide - NP_001932
RefSeq Peptide - NP_077741
swissprot - Q14574
swissprot - J3QRL9
Ensembl - ENSG00000134762
  
Related genetic diseases (OMIM): 613102 - ?Hypotrichosis and recurrent skin vesicles, 613102
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dsc2lENSDARG00000039677Danio rerio
 ENSGALG00000015140Gallus gallus
 Dsc3ENSMUSG00000059898Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DSC2 / Q02487 / desmocollin 2ENSG0000013475567
DSC1 / Q08554 / desmocollin 1ENSG0000013476551
CDH2 / P19022 / cadherin 2ENSG0000017055831
CDH1 / P12830 / cadherin 1ENSG0000003906830
CDH4 / P55283 / cadherin 4ENSG0000017924230
CDH3 / P22223 / cadherin 3ENSG0000006203829
CDH15 / P55291 / cadherin 15ENSG0000012991028
CDH13 / P55290 / cadherin 13ENSG0000014094526
CDH26 / Q8IXH8 / cadherin 26ENSG0000012421525


Protein motifs (from Interpro)
Interpro ID Name
 IPR000233  Cadherin, cytoplasmic domain
 IPR002126  Cadherin
 IPR009122  Desmosomal cadherin
 IPR013783  Immunoglobulin-like fold
 IPR014868  Cadherin prodomain
 IPR015919  Cadherin-like
 IPR020894  Cadherin conserved site
 IPR027397  Catenin binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0070268 cornification TAS
 cellular_componentGO:0001533 cornified envelope TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005911 cell-cell junction TAS
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030057 desmosome IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Keratinization
Formation of the cornified envelope


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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