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PCDH12 protocadherin 12 [ Homo sapiens (human) ]

Gene ID: 51294, updated on 9-Aug-2021

Summary

Official Symbol
PCDH12provided by HGNC
Official Full Name
protocadherin 12provided by HGNC
Primary source
HGNC:HGNC:8657
See related
Ensembl:ENSG00000113555 MIM:605622
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
DMJDS1; VECAD2; VE-cadherin-2
Summary
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 15.3), lung (RPKM 10.9) and 20 other tissues See more
Orthologs
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Genomic context

See PCDH12 in Genome Data Viewer
Location:
5q31.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (141943581..141958812, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141323146..141337767, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protocadherin 1 Neighboring gene glycine cleavage system protein H (aminomethyl carrier) pseudogene Neighboring gene DAP3 binding cell death enhancer 1 Neighboring gene ring finger protein 14 Neighboring gene glucosamine-6-phosphate deaminase 1

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glycogen metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
involved_in labyrinthine layer development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron recognition TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
protocadherin-12
Names
VE-cad-2
VE-cadherin 2
vascular cadherin-2
vascular endothelial cadherin 2

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.

mRNA and Protein(s)

  1. NM_016580.4NP_057664.1  protocadherin-12 precursor

    See identical proteins and their annotated locations for NP_057664.1

    Status: REVIEWED

    Source sequence(s)
    AC005740, AF231025, AF240635, CA418447
    Consensus CDS
    CCDS4269.1
    UniProtKB/Swiss-Prot
    Q9NPG4
    Related
    ENSP00000231484.3, ENST00000231484.4
    Conserved Domains (2) summary
    cd11304
    Location:251348
    Cadherin_repeat; Cadherin tandem repeat domain
    cl09101
    Location:31111
    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: Homo sapiens Updated Annotation Release 109.20210514

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
    141943581..141958812 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446106.1XP_024301874.1  protocadherin-12 isoform X1

    Conserved Domains (2) summary
    cd11304
    Location:251348
    Cadherin_repeat; Cadherin tandem repeat domain
    cl09101
    Location:31111
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
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