DISEASES

Disease-gene associations mined from literature

Literature associating SLC9A3R2 and cystic fibrosis

SLC9A3R2 [ENSP00000408005]

Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus; PDZ domain containing

Synonyms:  SLC9A3R2,  H3BMF5,  H3BN50,  H3BQS0,  Q15599 ...

Linkouts:  STRING  Pharos  UniProt  OMIM