CDH8

CDH8
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1ZXK, 2A62
Identifiers
Aliases	CDH8 , Nbla04261, cadherin 8
External IDs	OMIM: 603008 MGI: 107434 HomoloGene: 55604 GeneCards: CDH8
Gene location (Human)
Chr.	Chromosome 16 (human)
End	62,037,035 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	100,143,103 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; Brodmann area 23; ; prefrontal cortex; ; entorhinal cortex; ; middle temporal gyrus; ; dorsolateral prefrontal cortex; ; Brodmann area 9; ; superior frontal gyrus; ; nucleus accumbens; ; pons;
	Top expressed in
	habenula; ; globus pallidus; ; dorsal tegmental nucleus; ; ventral tegmental area; ; medial dorsal nucleus; ; lateral hypothalamus; ; medial vestibular nucleus; ; lateral geniculate nucleus; ; mammillary body; ; olfactory tubercle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding ; metal ion binding ; identical protein binding ; cytoskeletal protein binding ; protein homodimerization activity ; cadherin binding ;
Cellular component	axon terminus ; integral component of membrane ; synaptic cleft ; membrane ; plasma membrane ; synaptic membrane ; glutamatergic synapse ; cell surface ; catenin complex ;
Biological process	response to cold ; cell adhesion ; adherens junction organization ; synaptic transmission, glutamatergic ; homophilic cell adhesion via plasma membrane adhesion molecules ; chemical synaptic transmission ; regulation of synapse organization ; cell-cell junction assembly ; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules ; cell-cell adhesion mediated by cadherin ; cell-cell adhesion ; cell morphogenesis ;
	Sources:Amigo / QuickGO
Orthologs
	1006
	12564
	ENSG00000150394
	ENSMUSG00000036510
	P55286
	P97291
	NM_001796
	NM_001039154 ; NM_001285913 ; NM_001285914 ; NM_007667
	NP_001787
	NP_001034243 ; NP_001272842 ; NP_001272843 ; NP_031693
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 19, 2023

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

Function

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

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

Related Research Articles

T-cadherin, also known as cadherin 13, H-cadherin (heart), and CDH13, is a unique member of the cadherin superfamily of proteins because it lacks the transmembrane and cytoplasmic domains common to all other cadherins and is instead anchored to the cell's plasma membrane by the GPI anchor.

Cadherin-2 also known as Neural cadherin (N-cadherin), is a protein that in humans is encoded by the CDH2 gene. CDH2 has also been designated as CD325 . 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.

Cadherin-5, or VE-cadherin, also known as CD144, is a type of cadherin. It is encoded by the human gene CDH5.

Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.

Cadherin EGF LAG seven-pass G-type receptor 3 is a protein that in humans is encoded by the CELSR3 gene.

Cadherin EGF LAG seven-pass G-type receptor 2 is a protein that in humans is encoded by the CELSR2 gene.

Cadherin EGF LAG seven-pass G-type receptor 1 also known as flamingo homolog 2 or cadherin family member 9 is a protein that in humans is encoded by the CELSR1 gene.

Cadherin-3, also known as P-Cadherin, is a protein that in humans is encoded by the CDH3 gene.

Cadherin-11 is a protein that in humans is encoded by the CDH11 gene.

Cadherin-4 is a protein that in humans is encoded by the CDH4 gene.

Cadherin-6 is a protein that in humans is encoded by the CDH6 gene.

Cadherin-15 is a protein that in humans is encoded by the CDH15 gene.

Cadherin-16 is a protein that in humans is encoded by the CDH16 gene.

Cadherin-17 is a protein that in humans is encoded by the CDH17 gene.

Protocadherin-1 is a protein that in humans is encoded by the PCDH1 gene.

Protocadherin gamma-C3 is a protein that in humans is encoded by the PCDHGC3 gene.

Cadherin-12 is a protein that in humans is encoded by the CDH12 gene.

Cadherin-1 or Epithelial cadherin(E-cadherin), is a protein that in humans is encoded by the CDH1 gene. Mutations are correlated with gastric, breast, colorectal, thyroid, and ovarian cancers. CDH1 has also been designated as CD324. It is a tumor suppressor gene.

Cadherin 10 is a protein that in humans is encoded by the CDH10 gene.

Cadherin 9 is a protein that in humans is encoded by the CDH9 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000150394 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036510 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: CDH8 cadherin 8, type 2".
↑ 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.
↑ 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.

External links

CDH8 human gene location in the UCSC Genome Browser .
CDH8 human gene details in the UCSC Genome Browser .
Overview of all the structural information available in the PDB for UniProt : P97291 (Mouse Cadherin-8) at the PDBe-KB .

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000150394 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid9615235-5] 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.

[pmid2059658-6] 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.

[entrez-7] 1 2 "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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]