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PCDHB4 protocadherin beta 4 [ Homo sapiens (human) ]

Gene ID: 56131, updated on 27-Nov-2024

Summary

Official Symbol
PCDHB4provided by HGNC
Official Full Name
protocadherin beta 4provided by HGNC
Primary source
HGNC:HGNC:8689
See related
Ensembl:ENSG00000081818 MIM:606330; AllianceGenome:HGNC:8689
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-BETA4
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 PCDHB4 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 (141121818..141125623)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (141647136..141650941)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140501400..140505205)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protocadherin beta cluster Neighboring gene protocadherin beta 2 Neighboring gene protocadherin beta 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140516486-140517019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140517020-140517552 Neighboring gene protocadherin beta 5 Neighboring gene protocadherin beta 6

Genomic regions, transcripts, and products

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

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
    89884..93757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_050761.1 RefSeqGene

    Range
    5069..8874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018938.4NP_061761.1  protocadherin beta-4 precursor

    See identical proteins and their annotated locations for NP_061761.1

    Status: REVIEWED

    Source sequence(s)
    AF217754, AW135510, DA409037
    Consensus CDS
    CCDS4246.1
    UniProtKB/Swiss-Prot
    Q4V761, Q9Y5E5
    UniProtKB/TrEMBL
    B2R951
    Related
    ENSP00000194152.1, ENST00000194152.4
    Conserved Domains (3) summary
    cd11304
    Location:245342
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08266
    Location:29110
    Cadherin_2; Cadherin-like
    pfam16492
    Location:684767
    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
    141121818..141125623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791778.1 Reference GRCh38.p14 PATCHES

    Range
    356994..360799
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    141647136..141650941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)