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

Summary

Official Symbol: CDH8provided by HGNC
Official Full Name: cadherin 8provided by HGNC
Primary source: HGNC:HGNC:1767
See related: Ensembl:ENSG00000150394 MIM:603008; AllianceGenome:HGNC:1767
Gene type: protein coding
RefSeq status: REVIEWED
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]
Expression: Biased expression in brain (RPKM 2.8) and ovary (RPKM 0.2) See more
Orthologs: mouse all
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Genomic context

Location:: 16q21

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (61647250..62036438, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (67428496..67824205, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (61681154..62070342, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results show that promoter hypermethylation of ADCY8, CDH8, and ZNF582 are correlated with high-grade squamous intraepithelial lesion.
Title: Molecular Pap smear: HPV genotype and DNA methylation of ADCY8, CDH8, and ZNF582 as an integrated biomarker for high-grade cervical cytology.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in adherens junction organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion mediated by cadherin	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse organization	IEA Inferred from Electronic Annotation more info
involved_in response to cold	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in axon terminus	IBA Inferred from Biological aspect of Ancestor more info
part_of catenin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in synaptic cleft	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cadherin-8

Names: cadherin 8, type 2

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_001410893.1 → NP_001397822.1 cadherin-8 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC012174, AC040161, AC092124, AC092125, AC092129

Consensus CDS

CCDS92168.1

UniProtKB/TrEMBL

J3QLE6

Related

ENSP00000463511.1, ENST00000584337.5
NM_001796.5 → NP_001787.2 cadherin-8 isoform 1 preproprotein

Status: REVIEWED

Source sequence(s)

AC092125, AK124734, BC113416, R49605

Consensus CDS

CCDS10802.1

UniProtKB/Swiss-Prot

B3KWC1, P55286, Q14DC6, Q9ULB2

UniProtKB/TrEMBL

J3KRI5

Related

ENSP00000462701.1, ENST00000577390.6

Conserved Domains (3) summary

cd11304
Location:281 → 387

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:87 → 165

CA; Cadherin repeats

pfam01049
Location:645 → 790

Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

61647250..62036438 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005255760.5 → XP_005255817.1 cadherin-8 isoform X1

UniProtKB/TrEMBL

J3KRI5

Related

ENSP00000299345.6, ENST00000299345.10

Conserved Domains (3) summary

cd11304
Location:281 → 387

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:87 → 165

CA; Cadherin repeats

pfam01049
Location:653 → 702

Cadherin_C; Cadherin cytoplasmic region
XM_047433482.1 → XP_047289438.1 cadherin-8 isoform X2
XM_047433484.1 → XP_047289440.1 cadherin-8 isoform X3

UniProtKB/TrEMBL

J3KTG8, J3QKW5

Related

ENSP00000463266.1, ENST00000585315.5