Pcdh12 protocadherin 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pcdh12provided by MGI
Official Full Name: protocadherin 12provided by MGI
Primary source: MGI:MGI:1855700
See related: Ensembl:ENSMUSG00000024440 AllianceGenome:MGI:1855700
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pcdh14; VE-cad-2
Summary: Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; glycogen metabolic process; and homophilic cell adhesion via plasma membrane adhesion molecules. Located in cell-cell junction. Is expressed in several structures, including central nervous system; extraembryonic component; heart; placenta; and retina. Orthologous to human PCDH12 (protocadherin 12). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in lung adult (RPKM 6.4), placenta adult (RPKM 4.4) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 B3; 18 20.17 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (38400145..38417454, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (38267092..38284401, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The reactivity to acetylcholine and the circumferential mid-wall stress decreased with ageing in the PCDH12(-/-) mice, as opposed to the increase observed in the wild types.
Title: Protocadherin-12 deficiency leads to modifications in the structure and function of arteries in mice.
Loss of PCDH12 leads to morphological alterations of the placenta and to notable changes in its gene expression profile.
Title: Protocadherin 12 deficiency alters morphogenesis and transcriptional profile of the placenta.
PCDH12 has a unique expression pattern and its deficiency does not lead to conspicuous abnormalities; it is the first specific marker for both glycogen-rich trophoblasts and mesangial cells.
Title: Protocadherin 12 (VE-cadherin 2) is expressed in endothelial, trophoblast, and mesangial cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pcdh12 (e-PCR), detects polymorphism
- UniSTS:525388

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within glycogen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homophilic cell adhesion via plasma membrane adhesion molecules	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within labyrinthine layer development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: protocadherin-12

Names: VE-cadherin-2; protocadherin 14; 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)

NM_017378.2 → NP_059074.2 protocadherin-12 precursor

See identical proteins and their annotated locations for NP_059074.2

Status: VALIDATED

Source sequence(s)

AK028374, AK048100, AK165819, Y08715

Consensus CDS

CCDS29199.1

UniProtKB/Swiss-Prot

G5E847, O55134

UniProtKB/TrEMBL

Q8C883

Related

ENSMUSP00000025311.6, ENSMUST00000025311.8

Conserved Domains (2) summary

cd11304
Location:251 → 348

Cadherin_repeat; Cadherin tandem repeat domain

cl09101
Location:32 → 111

E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus