CDH8

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CDH8
Protein CDH8 PDB 1zxk.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CDH8, Nbla04261, cadherin 8
External IDs MGI: 107434 HomoloGene: 55604 GeneCards: 1006
Genetically Related Diseases
Disease Name References
non-small cell lung carcinoma
RNA expression pattern
PBB GE CDH8 210518 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001796

NM_001039154
NM_001285913
NM_001285914
NM_007667

RefSeq (protein)

NP_001787.2

NP_031693.2

Location (UCSC) Chr 16: 61.65 – 62.04 Mb Chr 8: 99.02 – 99.42 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Cadherin-8 is a protein that in humans is encoded by the CDH8 gene.[1][2][3]

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.[3]

Clinical significance[edit]

Disruptions of CDH8 in humans have been implicated in autism.[4][5]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: CDH8 cadherin 8, type 2". 
  4. ^ 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. PMID 20972252. 
  5. ^ 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. 

Further reading[edit]

External links[edit]