CDH2
entrez
1000
canonical
uniprot
P19022
canonical
ensembl
ENSG00000170558
resolver
ensp
ENSP00000269141
resolver
ensp
ENSP00000382312
resolver
ensp
ENSP00000412120
resolver
ensp
ENSP00000414269
resolver
ensp
ENSP00000502206
resolver
enst
ENST00000430882
resolver
enst
ENST00000676445
resolver
genesymbol
CDH2
resolver
genesymbol_syn
CDHN
resolver
genesymbol_syn
NCAD
resolver
hgnc
HGNC:1759
resolver
uniprot
A8MWK3
resolver
uniprot
B0YIY6
resolver
uniprot
C9J126
resolver
uniprot
Q14923
resolver
uniprot
Q8N173
resolver
uniprot_entry
C9J126_HUMAN
resolver
uniprot_entry
CADH2_HUMAN
resolver
uniprot_sec
A8MWK3
resolver
uniprot_sec
B0YIY6
resolver
uniprot_sec
Q14923
resolver
uniprot_sec
Q8N173
resolver
amino_acid_sequence
MCRIAGALRTLLPLLAALLQASVEASGEIALCKTGFPEDVYSAVLSKDVHEGQPLLNVKFSNCNGKRKVQYESSEPADFKVDEDGMVYAVRSFPLSSEHAKFLIYAQDKETQEKWQVAVKLSLKPTLTEESVKESAEVEEIVFPRQFSKHSGHLQRQKRDWVIPPINLPENSRGPFPQELVRIRSDRDKNLSLRYSVTGPGADQPPTGIFIINPISGQLSVTKPLDREQIARFHLRAHAVDINGNQVENPIDIVINVIDMNDNRPEFLHQVWNGTVPEGSKPGTYVMTVTAIDADDPNALNGMLRYRIVSQAPSTPSPNMFTINNETGDIITVAAGLDREKVQQYTLIIQATDMEGNPTYGLSNTATAVITVTDVNDNPPEFTAMTFYGEVPENRVDIIVANLTVTDKDQPHTPAWNAVYRISGGDPTGRFAIQTDPNSNDGLVTVVKPIDFETNRMFVLTVAAENQVPLAKGIQHPPQSTATVSVTVIDVNENPYFAPNPKIIRQEEGLHAGTMLTTFTAQDPDRYMQQNIRYTKLSDPANWLKIDPVNGQITTIAVLDRESPNVKNNIYNATFLASDNGIPPMSGTGTLQIYLLDINDNAPQVLPQEAETCETPDPNSINITALDYDIDPNAGPFAFDLPLSPVTIKRNWTITRLNGDFAQLNLKIKFLEAGIYEVPIIITDSGNPPKSNISILRVKVCQCDSNGDCTDVDRIVGAGLGTGAIIAILLCIIILLILVLMFVVWMKRRDKERQAKQLLIDPEDDVRDNILKYDEEGGGEEDQDYDLSQLQQPDTVEPDAIKPVGIRRMDERPIHAEPQYPVRSAAPHPGDIGDFINEGLKAADNDPTAPPYDSLLVFDYEGSGSTAGSLSSLNSSSSGGEQDYDYLNDWGPRFKKLADMYGGGDD
uniprot
proteins
disease_involvement
DISEASE: Arrhythmogenic right ventricular dysplasia, familial, 14 (ARVD14) [MIM:618920]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269|PubMed:28280076, ECO:0000269|PubMed:28326674}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) [MIM:618929]: An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies. {ECO:0000269|PubMed:31585109, ECO:0000269|PubMed:31650526}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Attention deficit-hyperactivity disorder 8 (ADHD8) [MIM:619957]: A form of attention deficit-hyperactivity disorder, a neurobehavioral developmental condition primarily characterized by the coexistence of attentional problems and hyperactivity, with each feature occurring infrequently alone. ADHD8 is an autosomal recessive form with onset in early childhood, usually by age 3 years. ADHD8 patients may manifest mild developmental delay with autism. {ECO:0000269|PubMed:34702855}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of neural stem cells quiescence by mediating anchorage of neural stem cells to ependymocytes in the adult subependymal zone: upon cleavage by MMP24, CDH2-mediated anchorage is affected, leading to modulate neural stem cell quiescence. Plays a role in cell-to-cell junction formation between pancreatic beta cells and neural crest stem (NCS) cells, promoting the formation of processes by NCS cells (By similarity). Required for proper neurite branching. Required for pre- and postsynaptic organization (By similarity). CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic spine density. May promote axon outgrowth and motor fiber repair via DSP-mediated recruitment to outgrowth tips (By similarity). {ECO:0000250|UniProtKB:P10288, ECO:0000250|UniProtKB:P15116, ECO:0000269|PubMed:31585109}.
uniprot
proteins
mass_dalton
99809
uniprot
proteins
post_translational_modification
PTM: Cleaved by MMP24. Ectodomain cleavage leads to the generation of a soluble 90 kDa N-terminal soluble fragment and a 45 kDa membrane-bound C-terminal fragment 1 (CTF1), which is further cleaved by gamma-secretase into a 35 kDa (By similarity). Cleavage in neural stem cells by MMP24 affects CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to modulate neural stem cell quiescence (By similarity). {ECO:0000250|UniProtKB:P15116}.; PTM: May be phosphorylated by OBSCN. {ECO:0000250|UniProtKB:P15116}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1500442
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16007225
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
2216790
uniprot
proteins
pubmed
2384753
uniprot
proteins
pubmed
23863954
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
28169360
uniprot
proteins
pubmed
28280076
uniprot
proteins
pubmed
28326674
uniprot
proteins
pubmed
31585109
uniprot
proteins
pubmed
31650526
uniprot
proteins
pubmed
32341084
uniprot
proteins
pubmed
34702855
uniprot
proteins
pubmed
7959764
uniprot
proteins
sequence_length
906
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23863954}; Single-pass type I membrane protein {ECO:0000255}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P15116}. Cell junction {ECO:0000269|PubMed:28169360}. Cell surface {ECO:0000250|UniProtKB:P15116}. Cell junction, desmosome {ECO:0000250|UniProtKB:P15116}. Cell junction, adherens junction {ECO:0000250|UniProtKB:P15116}. Cell projection, axon {ECO:0000250|UniProtKB:P15116}. Note=Colocalizes with TMEM65 at the intercalated disk in cardiomyocytes. Colocalizes with OBSCN at the intercalated disk and at sarcolemma in cardiomyocytes. {ECO:0000250|UniProtKB:P15116}.
uniprot
proteins
transmembrane_region
TRANSMEM 725..745; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins