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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SLC9A3R1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9368
Official gene symbolSLC9A3R1
Full namesolute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
Aliases,EBP50,NHERF,NHERF1,NPHLOP2,
Gene summaryThis 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.
LocationChromosome: 17   Locus: 17q25.1
Gene position72744763 - 72765499  Map Viewer
Gene orientationplus
Gene size20737 bp
Gene sequence
OMIM ID604990