Cadherin-2

CDH2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCDH2, CD325, CDHN, CDw325, NCAD, cadherin 2, ACOGS, ARVD14
External IDsOMIM: 114020; MGI: 88355; HomoloGene: 20424; GeneCards: CDH2; OMA:CDH2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001308176
NM_001792

NM_007664

RefSeq (protein)

NP_001295105
NP_001783
NP_001783.2

NP_031690

Location (UCSC)Chr 18: 27.93 – 28.18 MbChr 18: 16.72 – 16.94 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cadherin-2 also known as Neural cadherin (N-cadherin), is a protein that in humans is encoded by the CDH2 gene.[5][6][7] CDH2 has also been designated as CD325 (cluster of differentiation 325). Cadherin-2 is a transmembrane protein expressed in multiple tissues and functions to mediate cell–cell adhesion. In cardiac muscle, Cadherin-2 is an integral component in adherens junctions residing at intercalated discs, which function to mechanically and electrically couple adjacent cardiomyocytes. Alterations in expression and integrity of Cadherin-2 has been observed in various forms of disease, including human dilated cardiomyopathy. Variants in CDH2 have also been identified to cause a syndromic neurodevelopmental disorder.[8]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170558Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024304Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "UniProt". www.uniprot.org. Retrieved 26 August 2022.
  6. ^ Walsh FS, Barton CH, Putt W, Moore SE, Kelsell D, Spurr N, Goodfellow PN (September 1990). "N-cadherin gene maps to human chromosome 18 and is not linked to the E-cadherin gene". Journal of Neurochemistry. 55 (3): 805–12. doi:10.1111/j.1471-4159.1990.tb04563.x. PMID 2384753. S2CID 29840435.
  7. ^ Reid RA, Hemperly JJ (October 1990). "Human N-cadherin: nucleotide and deduced amino acid sequence". Nucleic Acids Research. 18 (19): 5896. doi:10.1093/nar/18.19.5896. PMC 332345. PMID 2216790.
  8. ^ Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, et al. (October 2019). "De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects". American Journal of Human Genetics. 105 (4): 854–868. doi:10.1016/j.ajhg.2019.09.005. PMC 6817525. PMID 31585109.

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