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PCDH20 protocadherin 20 [ Homo sapiens (human) ]

Gene ID: 64881, updated on 22-Mar-2020

Summary

Official Symbol
PCDH20provided by HGNC
Official Full Name
protocadherin 20provided by HGNC
Primary source
HGNC:HGNC:14257
See related
Ensembl:ENSG00000280165 MIM:614449
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PCDH13
Summary
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 4.5), lung (RPKM 1.5) and 14 other tissues See more
Orthologs

Genomic context

See PCDH20 in Genome Data Viewer
Location:
13q21.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (61409685..61415522, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (61983818..61989655, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723910 Neighboring gene microRNA 3169 Neighboring gene long intergenic non-protein coding RNA 2339 Neighboring gene uncharacterized LOC105370231

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
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog
Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.
NHGRI GWA Catalog
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.
NHGRI GWA Catalog
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22218

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
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 
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protocadherin-20
Names
protocadherin 13

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_022843.3NP_073754.2  protocadherin-20 precursor

    See identical proteins and their annotated locations for NP_073754.2

    Status: VALIDATED

    Source sequence(s)
    AA040057, AK094680, AK289924, AL162575, AL592490
    Consensus CDS
    CCDS9442.2
    UniProtKB/Swiss-Prot
    Q8N6Y1
    UniProtKB/TrEMBL
    B3KSZ7
    Related
    ENSP00000387250.3, ENST00000409204.4
    Conserved Domains (2) summary
    cd11304
    Location:540635
    Cadherin_repeat; Cadherin tandem repeat domain
    cl09101
    Location:70153
    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
    61409685..61415522 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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