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    PCDH20 protocadherin 20 [ Homo sapiens (human) ]

    Gene ID: 64881, updated on 17-Jun-2024

    Summary

    Official Symbol
    PCDH20provided by HGNC
    Official Full Name
    protocadherin 20provided by HGNC
    Primary source
    HGNC:HGNC:14257
    See related
    Ensembl:ENSG00000280165 MIM:614449; AllianceGenome:HGNC:14257
    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
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    Genomic context

    See PCDH20 in Genome Data Viewer
    Location:
    13q21.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (61409685..61415849, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (60629962..60647554, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (61983818..61989982, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723910 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:61776132-61776668 Neighboring gene microRNA 3169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7804 Neighboring gene NANOG hESC enhancer GRCh37_chr13:61858809-61859310 Neighboring gene NANOG hESC enhancer GRCh37_chr13:61890787-61891288 Neighboring gene long intergenic non-protein coding RNA 2339 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:62131441-62132640 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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22218

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    protocadherin-20
    Names
    protocadherin 13

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_022843.4NP_073754.2  protocadherin-20 precursor

      See identical proteins and their annotated locations for NP_073754.2

      Status: VALIDATED

      Source sequence(s)
      AL162575, AL592490
      Consensus CDS
      CCDS9442.2
      UniProtKB/Swiss-Prot
      A8K1K9, B1AQU2, Q8N6Y1, Q8NDN4, Q9NRT9
      UniProtKB/TrEMBL
      B2RBD0
      Related
      ENSP00000387250.3, ENST00000409204.5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      61409685..61415849 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      60629962..60647554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374865.1XP_054230840.1  protocadherin-20 isoform X1

      UniProtKB/Swiss-Prot
      A8K1K9, B1AQU2, Q8N6Y1, Q8NDN4, Q9NRT9
      UniProtKB/TrEMBL
      B2RBD0