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CDH8

From Wikipedia, the free encyclopedia
Protein-coding gene in humans

CDH8
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

1ZXK,2A62

Identifiers
AliasesCDH8, Nbla04261, cadherin 8
External IDsOMIM:603008;MGI:107434;HomoloGene:55604;GeneCards:CDH8;OMA:CDH8 - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for CDH8
Genomic location for CDH8
Band16q21Start61,647,242bp[1]
End62,037,035bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for CDH8
Genomic location for CDH8
Band8 D1|8 49.4 cMStart99,751,103bp[2]
End100,143,103bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • Brodmann area 23

  • prefrontal cortex

  • lateral nuclear group of thalamus

  • entorhinal cortex

  • gonad

  • middle temporal gyrus

  • testicle

  • dorsolateral prefrontal cortex

  • Brodmann area 9
Top expressed in
  • habenula

  • lateral septal nucleus

  • globus pallidus

  • dorsal tegmental nucleus

  • ventral tegmental area

  • medial dorsal nucleus

  • lateral hypothalamus

  • dentate gyrus of hippocampal formation granule cell

  • medial vestibular nucleus

  • lateral geniculate nucleus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1006

12564

Ensembl

ENSG00000150394

ENSMUSG00000036510

UniProt

P55286

P97291

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: 99.75 – 100.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cadherin-8 is aprotein that in humans is encoded by theCDH8gene.[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 ofCDH8 in humans have been implicated inautism.[8][9]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000150394Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000036510Ensembl, 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):467–471.doi:10.1006/geno.1998.5281.PMID 9615235.
  6. ^Suzuki S, Sano K, Tanihara H (April 1991)."Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue".Cell Regulation.2 (4):261–270.doi:10.1091/mbc.2.4.261.PMC 361775.PMID 2059658.
  7. ^ab"Entrez Gene: CDH8 cadherin 8, type 2".
  8. ^Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, et al. (January 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. (April 2016)."Frequency and Complexity of De Novo Structural Mutation in Autism".American Journal of Human Genetics.98 (4):667–679.doi:10.1016/j.ajhg.2016.02.018.PMC 4833290.PMID 27018473.

Further reading

[edit]

External links

[edit]
PDB gallery
  • 1zxk: Crystal Structure of Cadherin8 EC1 domain
    1zxk: Crystal Structure of Cadherin8 EC1 domain
  • 2a62: Crystal structure of mouse cadherin-8 EC1-3
    2a62: Crystal structure of mouse cadherin-8 EC1-3
Calcium-independent
IgSF CAM
Integrins
Calcium-dependent
Cadherins
Classical
Desmosomal
Protocadherin
Unconventional/ungrouped
Selectins
Other
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