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PCDH8 protocadherin 8 [ Homo sapiens (human) ]

Gene ID: 5100, updated on 1-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (52842889..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 Sharpr-MPRA regulatory region 8029 Neighboring gene olfactomedin 4

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

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

Pathways from PubChem

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
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_032949.3NP_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, AL139085, 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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    52842889..52848640 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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