Format

Send to:

Choose Destination
    • Showing Current items.

    PCDH8 protocadherin 8 [ Homo sapiens (human) ]

    Gene ID: 5100, updated on 13-Feb-2019

    Summary

    Official Symbol
    PCDH8provided by HGNC
    Official Full Name
    protocadherin 8provided by HGNC
    Primary source
    HGNC:HGNC:8660
    See related
    Ensembl:ENSG00000136099 MIM:603580
    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
    PAPC; ARCADLIN
    Summary
    This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 2.9), testis (RPKM 0.5) and 2 other tissues See more
    Orthologs

    Genomic context

    See PCDH8 in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (52843974..52848640, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (53418109..53422775, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene microRNA 759 Neighboring gene peptidylprolyl isomerase A pseudogene 26 Neighboring gene olfactomedin 4 Neighboring gene long intergenic non-protein coding RNA 1065

    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
    A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
    NHGRI GWA Catalog
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of embryonic epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synaptic membrane adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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_002590.4NP_002581.2  protocadherin-8 isoform 1 precursor

      See identical proteins and their annotated locations for NP_002581.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF061573, AL139085, BC036025
      Consensus CDS
      CCDS9438.1
      UniProtKB/Swiss-Prot
      O95206
      Related
      ENSP00000367177.3, ENST00000377942.7
      Conserved Domains (2) summary
      cd11304
      Location:501605
      Cadherin_repeat; Cadherin tandem repeat domain
      cl09101
      Location:31109
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
    2. NM_032949.2NP_116567.1  protocadherin-8 isoform 2 precursor

      See identical proteins and their annotated locations for NP_116567.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternative splice site on exon 1, truncating the portion encoding the cytoplasmic domain. As a result, isoform 2 has a shorter cytoplasmic tail, while still sharing a C terminus with isoform 1.
      Source sequence(s)
      AF061573, AY013873, BC036025
      Consensus CDS
      CCDS9439.1
      UniProtKB/Swiss-Prot
      O95206
      UniProtKB/TrEMBL
      A0A024QZ94
      Related
      ENSP00000341350.4, ENST00000338862.5
      Conserved Domains (2) summary
      cd11304
      Location:501605
      Cadherin_repeat; Cadherin tandem repeat domain
      cl09101
      Location:31109
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

    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_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      52843974..52848640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center