Home > Gene Browser > SLC9A3R1

SLC9A3R1

Synonyms
EBP50, NHERF, NHERF-1, NHERF1, NPHLOP2
External resources
Summary
This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.

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
958
Likely benign
3,505
Benign
100

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC9A3R1 gene.

Phenotype class
Patients in 3billion (%)

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