SLC9A3 (solute carrier family 9 member A3)

2007-02-01  

Identity

HGNC
LOCATION
5p15.33
LOCUSID
ALIAS
DIAR8,NHE-3,NHE3

Other Information

Locus ID:

NCBI: 6550
MIM: 182307
HGNC: 11073
Ensembl: ENSG00000066230

Variants:

dbSNP: 6550
ClinVar: 6550
TCGA: ENSG00000066230
COSMIC: SLC9A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066230ENST00000264938P48764
ENSG00000066230ENST00000514375P48764
ENSG00000066230ENST00000644203A0A2R8Y780

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Sodium/Proton exchangersREACTOMER-HSA-425986

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA27745ELF2GenePathwayassociated

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
224666132012Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.59
255525802015Human Clostridium difficile infection: inhibition of NHE3 and microbiota profile.41
167602592006IFN-gamma and TNF-alpha regulate human NHE3 gene expression by modulating the Sp family transcription factors in human intestinal epithelial cell line C2BBe1.33
186147972008Casein kinase 2 binds to the C terminus of Na+/H+ exchanger 3 (NHE3) and stimulates NHE3 basal activity by phosphorylating a separate site in NHE3.31
151972722004Ezrin regulates NHE3 translocation and activation after Na+-glucose cotransport.30
184334662008The enteropathogenic Escherichia coli effector protein EspF decreases sodium hydrogen exchanger 3 activity.30
155315802005Akt2 phosphorylates ezrin to trigger NHE3 translocation and activation.29
164212162006Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea.28
263587732015Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.28

Citation

Dessen P

SLC9A3 (solute carrier family 9 member A3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45845/slc9a3