SLC9A3 (solute carrier family 9 member A3)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6550
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 9 member A3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC9A3
Synonyms (NCBI Gene) Gene synonyms aliases
DIAR8, NHE-3, NHE3
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p15.33
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs144524702 C>T Likely-pathogenic Splice donor variant
rs766076524 C>T Pathogenic Coding sequence variant, missense variant
rs766583286 C>T Likely-pathogenic Coding sequence variant, missense variant
rs776026092 AGA>- Pathogenic Coding sequence variant, inframe deletion
rs869312806 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
miRTarBase ID miRNA Experiments Reference
MIRT490730 hsa-miR-132-5p PAR-CLIP 23592263
MIRT490729 hsa-miR-6786-5p PAR-CLIP 23592263
MIRT490728 hsa-miR-2277-3p PAR-CLIP 23592263
MIRT490727 hsa-miR-2277-5p PAR-CLIP 23592263
MIRT490726 hsa-miR-1199-3p PAR-CLIP 23592263
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
EGR1 Activation 16464174
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(43)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16159897, 19088451, 25851603, 35613257
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IDA 25851603
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 26358773, 35613257
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
182307 11073 ENSG00000066230
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P48764
Protein name Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) (Solute carrier family 9 member 3)
Protein function Plasma membrane Na(+)/H(+) antiporter (PubMed:18829453, PubMed:26358773, PubMed:35613257). Exchanges intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry, playing a key role in salt and fluid absorption and pH homeostasis (By sim
PDB 7X2U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00999 Na_H_Exchanger 58 → 462 Sodium/hydrogen exchanger family Family
Sequence 
MWGLGARGPDRGLLLALALGGLARAGGVEVEPGGAHGESGGFQVVTFEWAHVQDPYVIAL
WILVASLAKIGFHLSHKVTSVVPESALLIVLGLVLGGIVWAADHIASFTLTPTVFFFYLL
PPIVLDAGYFMPNRLFFGNLGTILLYAVVGTVWNAATTGLSLYGVFLSGLMGDLQIGLLD
FLLFGSLMAAVDPVAVLAVFEEVHVNEVLFIIVFGESLLNDAVTVVLYNVFESFVALGGD
NVTGVDCVKGIVSFFVVSLGGTLVGVVFAFLLSLVTRFTKHVRIIEPGFVFIISYLSYLT
SEMLSLSAILAITFCGICCQKYVKANISEQSATTVRYTMKMLASSAETIIFMFLGISAVN
PFIWTWNTAFVLLTLVFISVYRAIGVVLQTWLLNRYRMVQLEPIDQVVLSYGGLRGAVAF
ALVVLLDGDKVKEKNLFVSTTIIVVFFTVIFQGLTIKPLVQWLKVKRSEHREPRLNEKLH
GRAFDHILSAIEDISGQIGHNYLRDKWSHFDRKFLSRVLMRRSAQKSRDRILNVFHELNL
KDAISYVAEGERRGSLAFIRSPSTDNVVNVDFTPRSSTVEASVSYLLRENVSAVCLDMQS
LEQRRRSIRDAEDMVTHHTLQQYLYKPRQEYKHLYSRHELTPTEDEKQDREIFHRTMRKR
LESFKSTKLGLNQNKKAAKLYKRERAQKRRNSSIPNGKLPMESPAQNFTIKEKDLELSDT
EEPPNYDEEMSGGIEFLASVTKDTASDSPAGIDNPVFSPDEALDRSLLARLPPWLSPGET
VVPSQRARTQIPYSPGTFCRLMPFRLSSKSVDSFLQADGPEERPPAALPESTHM
Sequence length 834
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Proximal tubule bicarbonate reclamation
Protein digestion and absorption
Bile secretion
Mineral absorption 		  Sodium/Proton exchangers
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital secretory diarrhea Congenital secretory sodium diarrhea 8 rs869312806, rs776026092, rs766076524, rs869320692, rs869312807, rs869320759, rs144524702, rs766583286 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Cystic Fibrosis cystic fibrosis N/A N/A GenCC
Show/Hide Text Mining Associations (36)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Stimulate 24376510
Acute Kidney Injury Associate 23324582
Breast Neoplasms Associate 26218645
Cardiovascular Diseases Associate 28495802
Cholelithiasis Associate 25674247
Clostridium Infections Inhibit 25552580
Colitis Collagenous Associate 33930606
Colitis Ulcerative Associate 12181169
Coronary Disease Associate 28629174
Cystic Disease Of Lung Associate 26140448