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    PCDHB13 protocadherin beta 13 [ Homo sapiens (human) ]

    Gene ID: 56123, updated on 11-Apr-2024

    Summary

    Official Symbol
    PCDHB13provided by HGNC
    Official Full Name
    protocadherin beta 13provided by HGNC
    Primary source
    HGNC:HGNC:8684
    See related
    Ensembl:ENSG00000187372 MIM:606339; AllianceGenome:HGNC:8684
    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
    PCDH-BETA13
    Summary
    This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
    Orthologs
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    Genomic context

    See PCDHB13 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (141213919..141218979)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (141739232..141744292)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140593491..140598551)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protocadherin beta cluster Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140589723-140590312 Neighboring gene protocadherin beta 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:140595068-140595596 Neighboring gene protocadherin beta 12 Neighboring gene protocadherin beta 14 Neighboring gene protocadherin beta 18 pseudogene

    Genomic regions, transcripts, and products

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor disc membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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.

    Genomic

    1. NG_000017.2 

      Range
      182044..185546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018933.4NP_061756.1  protocadherin beta-13 precursor

      See identical proteins and their annotated locations for NP_061756.1

      Status: REVIEWED

      Source sequence(s)
      AC244517, AF217745, DC329454
      Consensus CDS
      CCDS4255.1
      UniProtKB/Swiss-Prot
      A8K9V6, Q9Y5F0
      UniProtKB/TrEMBL
      B4DJM8
      Related
      ENSP00000345491.4, ENST00000341948.6
      Conserved Domains (3) summary
      cd11304
      Location:248344
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:31112
      Cadherin_2; Cadherin-like
      pfam16492
      Location:686768
      Cadherin_C_2; Cadherin cytoplasmic C-terminal

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      141213919..141218979
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791778.1 Reference GRCh38.p14 PATCHES

      Range
      449095..454155
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      141739232..141744292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)