CDH8

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CDH8
Protein CDH8 PDB 1zxk.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCDH8, Nbla04261, cadherin 8
External IDsOMIM: 603008 MGI: 107434 HomoloGene: 55604 GeneCards: CDH8
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for CDH8
Genomic location for CDH8
Band16q21Start61,647,242 bp[1]
End62,037,035 bp[1]
RNA expression pattern
PBB GE CDH8 210518 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001796

NM_001039154
NM_001285913
NM_001285914
NM_007667

RefSeq (protein)

NP_001787

NP_001034243
NP_001272842
NP_001272843
NP_031693

Location (UCSC)Chr 16: 61.65 – 62.04 MbChr 8: 99.02 – 99.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cadherin-8 is a protein that in humans is encoded by the CDH8 gene.[5][6][7]

Function[edit]

This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance.[7]

Clinical significance[edit]

Disruptions of CDH8 in humans have been implicated in autism.[8][9]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000150394 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036510 - Ensembl, 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. ^ Kremmidiotis G, Baker E, Crawford J, Eyre HJ, Nahmias J, Callen DF (May 1998). "Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3): 467–71. doi:10.1006/geno.1998.5281. PMID 9615235.
  6. ^ Suzuki S, Sano K, Tanihara H (Apr 1991). "Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue". Cell Regulation. 2 (4): 261–70. doi:10.1091/mbc.2.4.261. PMC 361775. PMID 2059658.
  7. ^ a b "Entrez Gene: CDH8 cadherin 8, type 2".
  8. ^ Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, et al. (Jan 2011). "Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability". Journal of Medical Genetics. 48 (1): 48–54. doi:10.1136/jmg.2010.079426. PMC 3003876. PMID 20972252.
  9. ^ Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, et al. (2016). "Frequency and Complexity of De Novo Structural Mutation in Autism". The American Journal of Human Genetics. 98 (4): 1–13. doi:10.1016/j.ajhg.2016.02.018. PMC 4833290. PMID 27018473.

Further reading[edit]

External links[edit]