NHERF2

Chr 16

NHERF family PDZ scaffold protein 2

Also known as: E3KARP, NHE3RF2, NHERF-2, OCTS2, SIP-1, SIP1, SLC9A3R2, TKA-1

NCBI Gene: 9351 ENSG00000065054 UniProt: Q15599

This gene encodes a PDZ scaffolding protein that connects plasma membrane proteins to the actin cytoskeleton and regulates their surface expression, including the sodium/hydrogen exchanger 3 and the cystic fibrosis transmembrane regulator ion channel. Mutations cause autosomal dominant deafness (DFNA82). The gene shows tolerance to loss-of-function variants with a low pLI score.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.70

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429