Entity Details

Primary name CDH3
Entity type gene
Source Source Link

Details

PrimaryID1001
RefseqGeneNG_009096
SymbolCDH3
Namecadherin 3
Chromosome16
Location16q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-12-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCADH3_HUMAN

GO terms

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GOName
GO:0001895 retina homeostasis
GO:0005509 calcium ion binding
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007601 visual perception
GO:0010628 positive regulation of gene expression
GO:0010838 positive regulation of keratinocyte proliferation
GO:0016021 integral component of membrane
GO:0016342 catenin complex
GO:0022405 hair cycle process
GO:0030054 cell junction
GO:0031424 keratinization
GO:0032773 positive regulation of monophenol monooxygenase activity
GO:0032912 negative regulation of transforming growth factor beta2 production
GO:0034332 adherens junction organization
GO:0042060 wound healing
GO:0042493 response to drug
GO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway
GO:0045296 cadherin binding
GO:0048023 positive regulation of melanin biosynthetic process
GO:0051796 negative regulation of timing of catagen
GO:0060901 regulation of hair cycle by canonical Wnt signaling pathway
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules
GO:1902910 positive regulation of melanosome transport

Diseases

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Disease IDSourceNameDescription
225280 OMIMEctodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS)A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly. The disease is caused by variants affecting the gene represented in this entry.
601553 OMIMHypotrichosis congenital with juvenile macular dystrophy (HJMD)A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life. The disease is caused by variants affecting the gene represented in this entry.