Home > Gene Browser > SLC9A3R2

SLC9A3R2

Synonyms
E3KARP, NHE3RF2, NHERF-2, NHERF2, OCTS2, SIP-1, SIP1, TKA-1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
19,333
Likely benign
2,109
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC9A3R2 gene.

Phenotype class
Patients in 3billion (%)

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