CDH8 cadherin 8, type 2 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: CDH8provided by HGNC
Official Full Name: cadherin 8, type 2provided by HGNC
Primary source: HGNC:1767
See related: HPRD:04306; MIM:603008
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Nbla04261
Summary: 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. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 16q22.1

Sequence :: Chromosome: 16; NC_000016.9 (61685915..62070739, complement)

See CDH8 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

cadherin 8, a type II neuronal cadherin, is expressed in cyst epithelia both in vivo and in vitro; data suggest that ectopic expression of cadherin 8 in renal epithelial cells is sufficient to cause the morphogenic pattern of cyst formation
Title: Ectopic expression of cadherin 8 is sufficient to cause cyst formation in a novel 3D collagen matrix renal tubule culture.
Rare familial 16q21 microdeletions and expression analysis implicate CDH8 in susceptibility to autism and learning disabilities.
Title: Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
cadherin-8 may be involved in both kidney morphogenesis as well as tumorigenesis in some types of renal cell carcinoma
Title: Expression of cadherin-8 in renal cell carcinoma and fetal kidney.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P55286	P35222	CTNNB1		HPRD	PubMed
BioGRID:107441	BioGRID:107880	CTNNB1		BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Adherens junctions interactions, organism-specific biosystem (from REACTOME)
Adherens junctions interactions, organism-specific biosystemThe adherens junctions (AJ) are multiprotein complexes that promote homotypic cell adhesion in nearly all types of tissue by linking membrane and cytoskeletal components at discrete contact regions (...
Cell junction organization, organism-specific biosystem (from REACTOME)
Cell junction organization, organism-specific biosystem
Cell junction organization
Cell-Cell communication, organism-specific biosystem (from REACTOME)
Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
Cell-cell junction organization, organism-specific biosystem (from REACTOME)
Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...

General gene information

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Markers

CDH8_1919 (e-PCR)
- UniSTS:462096

D16S533 (e-PCR)
- UniSTS:148756

RH123361 (e-PCR)
- UniSTS:135737

SHGC-79337 (e-PCR)
- UniSTS:103242

D16S2849 (e-PCR)
- UniSTS:153419

D16S389 (e-PCR)
- UniSTS:148556

D16S3337 (e-PCR)
- UniSTS:9038

D16S2997 (e-PCR)
- UniSTS:22120

D16S2896 (e-PCR)
- UniSTS:153466

SHGC-32357 (e-PCR)
- UniSTS:12938

SHGC-60754 (e-PCR)
- UniSTS:17310

AFM212XE11 (e-PCR)
- UniSTS:76464

RH120002 (e-PCR)
- UniSTS:133326

Homology

Homologs of the CDH8 gene: The CDH8 gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, zebrafish, and fruit fly.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
adherens junction organization	TAS Traceable Author Statement more info
cell adhesion	TAS Traceable Author Statement more info	PubMed
cell junction assembly	TAS Traceable Author Statement more info
cell-cell junction organization	TAS Traceable Author Statement more info
homophilic cell adhesion	IEA Inferred from Electronic Annotation more info
response to cold	IEA Inferred from Electronic Annotation more info
synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
axon terminus	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
synaptic cleft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cadherin-8

Names: cadherin-8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001796.4 → NP_001787.2 cadherin-8 preproprotein

Status: VALIDATED

Source sequence(s)

AC092125, AK124734, BC113416, R49605

Consensus CDS

CCDS10802.1

UniProtKB/Swiss-Prot

P55286

Conserved Domains (2) summary

pfam01049
Location:645 – 790
Blast Score: 447

Cadherin_C; Cadherin cytoplasmic region

cd11304
Location:281 – 387
Blast Score: 241

Cadherin_repeat; Cadherin tandem repeat domain.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p10 Primary Assembly

Range

61685915..62070739, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

47554742..47940223, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018927.1 Alternate CHM1_1.0

Range

62690439..63074893, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01025353.1 (39722..247107)	None
genomic	ABBA01025354.1	None
genomic	ABBA01025355.1	None
genomic	AC012174.5	None
genomic	AC040161.5 (68794..155279)	None
genomic	AC092124.2 (182648..196176)	None
genomic	AC092125.2	None
genomic	AC092129.3 (90886..190333)	None
genomic	AMYH01007725.1 (564122..717085)	None
genomic	AMYH01007726.1	None
genomic	CH471092.1	EAW82994.1
		EAW82995.1
mRNA	AB035305.1	BAA87419.1
mRNA	AB074170.1	BAE45735.1
mRNA	AK124734.1	BAG54083.1
mRNA	BC113416.1	AAI13417.1
mRNA	L34060.1	AAA35628.1
mRNA	R34732.1	None
mRNA	R49605.1	None
other-genetic	HQ258504.1	ADR83258.1