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PCDHB12 protocadherin beta 12 [ Homo sapiens (human) ]

Gene ID: 56124, updated on 7-Jun-2020

Summary

Official Symbol
PCDHB12provided by HGNC
Official Full Name
protocadherin beta 12provided by HGNC
Primary source
HGNC:HGNC:8683
See related
Ensembl:ENSG00000120328 MIM:606338
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-BETA12
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

Genomic context

See PCDHB12 in Genome Data Viewer
Location:
5q31.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (141208719..141212571)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140587914..140592143)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protocadherin beta cluster Neighboring gene protocadherin beta 10 Neighboring gene protocadherin beta 11 Neighboring gene protocadherin beta 13 Neighboring gene protocadherin beta 14

Genomic regions, transcripts, and products

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
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 beta-12
Names
PCDH-beta-12

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.

Genomic

  1. NG_000017.2 

    Range
    176844..180251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018932.4NP_061755.1  protocadherin beta-12 precursor

    See identical proteins and their annotated locations for NP_061755.1

    Status: REVIEWED

    Source sequence(s)
    AC244517, AF217746, BC045637
    Consensus CDS
    CCDS4254.1
    UniProtKB/Swiss-Prot
    Q9Y5F1
    Related
    ENSP00000239450.2, ENST00000239450.4
    Conserved Domains (3) summary
    cd11304
    Location:247343
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08266
    Location:35112
    Cadherin_2; Cadherin-like
    pfam16492
    Location:685768
    Cadherin_C_2; Cadherin cytoplasmic C-terminal

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    141208719..141212571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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