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CDH8 cadherin 8 [ Homo sapiens (human) ]

Gene ID: 1006, updated on 7-Dec-2018

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

Genomic context

See CDH8 in Genome Data Viewer
Location:
16q21
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (61640398..62036835, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (61681169..62070939, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371301 Neighboring gene uncharacterized LOC105371302 Neighboring gene RNA, 7SK small nuclear 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • 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...
  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeletal protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
adherens junction organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adherens junction organization TAS
Traceable Author Statement
more info
 
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adhesion mediated by cadherin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
 
response to cold IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon terminus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synaptic cleft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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, ENST00000577390.5
    Conserved Domains (3) summary
    cd11304
    Location:281387
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:87165
    CA; Cadherin repeats
    pfam01049
    Location:645793
    Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    61640398..62036835 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

    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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