SLC9A3R2 Gene Summary [Human]
This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Details
| Type | Protein Coding |
| Official Symbol | SLC9A3R2 |
| Official Name | SLC9A3 regulator 2 [Source:HGNC Symbol;Acc:HGNC:11076] |
| Ensembl ID | ENSG00000065054 |
| Bio databases IDs | |
| Aliases | SLC9A3 regulator 2 |
| Synonyms | 0610011L07Rik, 1200011K07Rik, 2010007A20Rik, E3KARP, NHE3RF2, Nherf, Nherf1, NHERF family PDZ scaffold protein 2, OCTS2, SIP-1, SLC9A3R2, Sryip1, TKA-1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 SLC9A3R2 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
- beta-catenin binding
- G-protein-coupled receptor binding
- canonical PDZ domain
- EBP50, C-terminal
- low-density lipoprotein receptor binding
- protein binding
- receptor binding
- PDZ domain
- identical protein binding
- ERM binding domain
- hinge domain
- PDZ binding motif
- cpPDZ_Deg_HtrA-like
- transporter
- phosphatase binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- proteinuria
- metastasis
- cardiovascular disorder
- metabolic syndrome X
- myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis
- angiomatosis
- benign neoplasia
- open-angle glaucoma
role in cell
- expression in
- quantity
- synthesis in
- cell death
- growth
- migration
- proliferation
- binding in
- degranulation
- internalization by
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
- membrane fraction
- Cytoplasm
- cell surface
- cell borders
- cell periphery
- apical compartment
- cellular membrane
- Nucleus
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- cell-cell contacts
- cytosol
- stereocilia
- apical cell surfaces
- apical membrane
- pedicels
- brush border
- microvilli
- cell-cell adherens junctions
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC9A3R2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- macromolecular complex assembly
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- focal adhesion
- endomembrane system
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatase binding
- type 3 metabotropic glutamate receptor binding
- identical protein binding
- protein binding
- protein anchor
- cadherin binding
- beta-catenin binding
- type 2 metabotropic glutamate receptor binding
- receptor binding