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    PCDHB15 protocadherin beta 15 [ Homo sapiens (human) ]

    Gene ID: 56121, updated on 10-Dec-2024

    Summary

    Official Symbol
    PCDHB15provided by HGNC
    Official Full Name
    protocadherin beta 15provided by HGNC
    Primary source
    HGNC:HGNC:8686
    See related
    Ensembl:ENSG00000113248 MIM:606341; AllianceGenome:HGNC:8686
    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-BETA15
    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 PCDHB15 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (141245395..141249365)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (141770701..141774671)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140624963..140628933)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protocadherin beta cluster Neighboring gene protocadherin beta 18 pseudogene Neighboring gene protocadherin beta 19 pseudogene Neighboring gene zinc finger protein 57 pseudogene Neighboring gene uncharacterized LOC105378199 Neighboring gene Sharpr-MPRA regulatory region 13681 Neighboring gene solute carrier family 25 member 2

    Genomic regions, transcripts, and products

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding  
    Component Evidence Code Pubs
    located_in photoreceptor connecting cilium  
    is_active_in plasma membrane  

    NCBI Reference Sequences (RefSeq)

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    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
      213470..216355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018935.4NP_061758.1  protocadherin beta-15 precursor

      See identical proteins and their annotated locations for NP_061758.1

      Status: REVIEWED

      Source sequence(s)
      AC244517, AF217742, AI473490, AK312794, BC038797
      Consensus CDS
      CCDS4257.1
      UniProtKB/Swiss-Prot
      Q8IUX5, Q9Y5E8
      UniProtKB/TrEMBL
      B2R708
      Related
      ENSP00000231173.3, ENST00000231173.6
      Conserved Domains (3) summary
      cd11304
      Location:247343
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:30112
      Cadherin_2; Cadherin-like
      pfam16492
      Location:685768
      Cadherin_C_2; Cadherin cytoplasmic C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      141245395..141249365
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791778.1 Reference GRCh38.p14 PATCHES

      Range
      480571..484541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      141770701..141774671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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