PCDH12 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
PCDH12
Official Name
protocadherin 12 [Source:HGNC Symbol;Acc:HGNC:8657]
Ensembl ID
ENSG00000113555
Bio databases IDs NCBI: 51294 Ensembl: ENSG00000113555
Aliases protocadherin 12, VE-cadherin-2
Synonyms DMJDS1, Pcdh14, protocadherin 12, VECAD2, VE-cadherin-2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PCDH12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Cadherin-like
  • Cadherin repeat-like domain

Pathways

Biological processes and signaling networks where the PCDH12 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • papillomatosis
  • COVID-19
  • squamous cell cancer
  • diencephalic-mesencephalic junction dysplasia syndrome 1
  • gout
  • squamous-cell carcinoma
  • preeclampsia
  • diencephalic-mesencephalic junction dysplasia
  • papilloma
regulated by
  • cyclic AMP
  • prostaglandin E2
  • histamine
  • PI3K (complex)
  • gefitinib
  • PKC
  • VEGF
  • Secretase gamma
  • Adam-10
regulates
  • glycogen
role in cell
  • adhesion
  • aggregation
  • recognition

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cellular membrane
  • intercellular junctions

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PCDH12 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • calcium-dependent cell-cell adhesion
  • glycogen metabolic process
  • neuron recognition
  • cell adhesion
  • homophilic cell adhesion
  • labyrinthine layer development

Cellular Component

Where in the cell the gene product is active
  • extracellular vesicular exosome
  • cell-cell junction
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.