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CDH8 cadherin 8 [ Homo sapiens (human) ]

Gene ID: 1006, updated on 23-Nov-2021

Summary

Official Symbol
CDH8provided by HGNC
Official Full Name
cadherin 8provided by HGNC
Primary source
HGNC:HGNC:1767
See related
Ensembl:ENSG00000150394 MIM:603008
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
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Genomic context

See CDH8 in Genome Data Viewer
Location:
16q21
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (61640398..62036446, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (61681154..62070342, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371302 Neighboring gene Sharpr-MPRA regulatory region 11181 Neighboring gene RN7SK pseudogene 76 Neighboring gene RNA, U6 small nuclear 21, pseudogene Neighboring gene uncharacterized LOC105371306

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
GeneReviews: Not available
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
GeneReviews: Not available
Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell adhesion via plasma-membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in axon terminus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane 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
PubMed 
located_in synaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

  1. NM_001796.5NP_001787.2  cadherin-8 preproprotein

    See identical proteins and their annotated locations for NP_001787.2

    Status: REVIEWED

    Source sequence(s)
    AC092125, AK124734, BC113416, R49605
    Consensus CDS
    CCDS10802.1
    UniProtKB/Swiss-Prot
    P55286
    Related
    ENSP00000462701.1, ENST00000577390.6
    Conserved Domains (3) summary
    cd11304
    Location:281387
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:87165
    CA; Cadherin repeats
    pfam01049
    Location:645790
    Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    61640398..62036446 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255760.4XP_005255817.1  cadherin-8 isoform X1

    See identical proteins and their annotated locations for XP_005255817.1

    Related
    ENSP00000299345.6, ENST00000299345.10
    Conserved Domains (3) summary
    cd11304
    Location:281387
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:87165
    CA; Cadherin repeats
    pfam01049
    Location:653702
    Cadherin_C; Cadherin cytoplasmic region

RNA

  1. XR_001751814.2 RNA Sequence

  2. XR_001751812.2 RNA Sequence

  3. XR_001751813.2 RNA Sequence

  4. XR_001751811.2 RNA Sequence

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