ENSG00000129910


Homo sapiens

Features
Gene ID: ENSG00000129910
  
Biological name :CDH15
  
Synonyms : cadherin 15 / CDH15 / P55291
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q24.3
Gene start: 89171767
Gene end: 89195492
  
Corresponding Affymetrix probe sets: 206327_s_at (Human Genome U133 Plus 2.0 Array)   206328_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000289746
NCBI entrez gene - 1013     See in Manteia.
OMIM - 114019
RefSeq - NM_004933
RefSeq Peptide - NP_004924
swissprot - P55291
Ensembl - ENSG00000129910
  
Related genetic diseases (OMIM): 612580 - Mental retardation, autosomal dominant 3, 612580
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
 cdh15ENSDARG00000068191Danio rerio
 CDH15ENSGALG00000030040Gallus gallus
 Cdh15ENSMUSG00000031962Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CDH4 / P55283 / cadherin 4ENSG0000017924241
CDH2 / P19022 / cadherin 2ENSG0000017055840
CDH1 / P12830 / cadherin 1ENSG0000003906839
CDH3 / P22223 / cadherin 3ENSG0000006203838
DSC3 / Q14574 / desmocollin 3ENSG0000013476231
DSC2 / Q02487 / desmocollin 2ENSG0000013475530
DSC1 / Q08554 / desmocollin 1ENSG0000013476528
CDH13 / P55290 / cadherin 13ENSG0000014094527
CDH26 / Q8IXH8 / cadherin 26ENSG0000012421526


Protein motifs (from Interpro)
Interpro ID Name
 IPR000233  Cadherin, cytoplasmic domain
 IPR002126  Cadherin
 IPR015919  Cadherin-like
 IPR020894  Cadherin conserved site
 IPR027397  Catenin binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA
 biological_processGO:0034332 adherens junction organization TAS
 biological_processGO:0051149 positive regulation of muscle cell differentiation TAS
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005901 caveola IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031594 neuromuscular junction IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
CDO in myogenesis
Adherens junctions interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001249 Mental retardation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000188130 MAPK12 / P53778 / mitogen-activated protein kinase 12  / complex / reaction
 ENSG00000112062 MAPK14 / Q16539 / mitogen-activated protein kinase 14  / reaction / complex
 ENSG00000064309 CDON / Q4KMG0 / cell adhesion associated, oncogene regulated  / complex / reaction
 ENSG00000008294 SPAG9 / O60271 / sperm associated antigen 9  / complex / reaction
 ENSG00000170558 CDH2 / P19022 / cadherin 2  / complex
 ENSG00000129910 CDH15 / P55291 / cadherin 15  / complex
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / reaction / complex
 ENSG00000044115 CTNNA1 / P35221 / catenin alpha 1  / complex
 ENSG00000140299 BNIP2 / Q12982 / BCL2 interacting protein 2  / reaction / complex
 ENSG00000144857 BOC / Q9BWV1 / BOC cell adhesion associated, oncogene regulated  / complex / reaction
 ENSG00000097007 ABL1 / P00519 / ABL proto-oncogene 1, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000066032 CTNNA2 / P26232 / catenin alpha 2  / complex
 ENSG00000185386 MAPK11 / Q15759 / mitogen-activated protein kinase 11  / reaction / complex
 ENSG00000168036 CTNNB1 / P35222 / catenin beta 1  / complex






 

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