FRMPD2 Gene Summary [Human]

This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]

Details

Type
Retained Intron
Official Symbol
FRMPD2
Official Name
FERM and PDZ domain containing 2 [Source:HGNC Symbol;Acc:HGNC:28572]
Ensembl ID
ENSG00000170324
Bio databases IDs NCBI: 143162 Ensembl: ENSG00000170324
Aliases FERM and PDZ domain containing 2
Synonyms AABR07024637.1, FERM and PDZ domain containing 2, Gm1582, Gm626, LOC100910975, LOC108353074, PDZD5C, PDZK4, PDZK5C, Predicted gene 626, RGD1565652
Species
Human, Homo sapiens
OrthologiesMouse

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 FRMPD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Domain present in PSD-95, Dlg, and ZO-1/2
  • FERM central domain
  • Band 4.1 homologues
  • canonical PDZ domain
  • protein binding
  • Pleckstrin homology-like domain
  • PDZ domain
  • phosphatidylinositol binding
  • FERM N-terminal domain
  • Protein Kinases, catalytic domain
  • Ubl1_cv_Nsp3_N-like
  • cpPDZ_Deg_HtrA-like
  • FERM domain B-lobe
  • FERM C-terminal PH-like domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulated by
disease
  • retinal hemorrhage
  • non-insulin-dependent diabetes mellitus
  • ovarian carcinoma
  • epithelial ovarian cancer
  • ophthalmic disorder
  • Crohn disease
  • fibromuscular dysplasia
  • inflammatory bowel disease
  • myopia
  • refractive error
role in cell
  • assembly

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
  • basolateral membrane
  • tight junctions

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human FRMPD2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • tight junction assembly

Cellular Component

Where in the cell the gene product is active
  • tight junction
  • cytoskeleton
  • apical part of cell
  • cytoplasm
  • basolateral plasma membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • 1-phosphatidylinositol 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.