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Aliases for SLC9A3 Gene

Aliases for SLC9A3 Gene

  • Solute Carrier Family 9 Member A3 2 3 5
  • Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 2 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 2 3
  • Na(+)/H(+) Exchanger 3 3 4
  • NHE-3 3 4
  • NHE3 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger) 3
  • Solute Carrier Family 9 Member 3 4
  • Sodium/Hydrogen Exchanger 3 3
  • DIAR8 3

External Ids for SLC9A3 Gene

Previous HGNC Symbols for SLC9A3 Gene

  • NHE3

Previous GeneCards Identifiers for SLC9A3 Gene

  • GC05M000647
  • GC05M000513
  • GC05M000526
  • GC05M000460

Summaries for SLC9A3 Gene

Entrez Gene Summary for SLC9A3 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 chromosomes 10 and 22. [provided by RefSeq, Mar 2016]

GeneCards Summary for SLC9A3 Gene

SLC9A3 (Solute Carrier Family 9 Member A3) is a Protein Coding gene. Diseases associated with SLC9A3 include Diarrhea 8, Secretory Sodium, Congenital and Diarrhea 3, Secretory Sodium, Congenital, Syndromic. Among its related pathways are Collagen chain trimerization and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include PDZ domain binding and sodium:proton antiporter activity. An important paralog of this gene is SLC9A5.

UniProtKB/Swiss-Prot for SLC9A3 Gene

  • Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient (PubMed:26358773). Plays an important role in signal transduction.

Gene Wiki entry for SLC9A3 Gene

Additional gene information for SLC9A3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC9A3 Gene

Genomics for SLC9A3 Gene

Regulatory Elements for SLC9A3 Gene

Enhancers for SLC9A3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H000402 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +167.4 167374 0 HDGF TBL1XR1 BATF ATF7 ETV6 RUNX3 CREM IKZF2 CBFB CEBPB SLC9A3 SLC9A3-AS1 EXOC3 LOC100310782 GC05M000376
GH05H000518 1.4 FANTOM5 ENCODE dbSUPER 13.6 +49.2 49213 5 PKNOX1 KLF1 TAL1 KLF17 ZIC2 TCF12 ZFHX2 GLIS2 GATA3 ZNF366 SLC9A3 EXOC3 ENSG00000271781 CEP72 EXOC3-AS1 SLC9A3-AS1 ENSG00000250385 GC05P000482
GH05H000752 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -186.0 -186045 7 HDGF TBP FOXA2 ARID4B YBX1 THRB RAD21 ZBTB7B RARA ZNF143 ZDHHC11B ZDHHC11 SLC9A3-AS1 SLC9A3 EXOC3 ENSG00000271781 BRD9 TPPP PIR41835 PIR51794
GH05H000499 0.8 FANTOM5 ENCODE dbSUPER 8.9 +70.1 70058 2 SLC9A3-AS1 SLC9A3 EXOC3 EXOC3-AS1 GC05P000482 ENSG00000250385
GH05H000656 1.2 ENCODE dbSUPER 5.5 -87.2 -87230 1 ATF1 RB1 TBL1XR1 ARNT BATF TCF12 GATA2 EGR1 FOS CREM CEP72 ENSG00000271781 TRIP13 BRD9 BRD9P2 ZDHHC11B ENSG00000250173 SLC9A3 PIR37264 LOC102724994
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC9A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC9A3 Gene

Chromosome:
5
Start:
470,510 bp from pter
End:
570,428 bp from pter
Size:
99,919 bases
Orientation:
Minus strand

Genomic View for SLC9A3 Gene

Genes around SLC9A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A3 Gene

Proteins for SLC9A3 Gene

  • Protein details for SLC9A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48764-SL9A3_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 3
    Protein Accession:
    P48764
    Secondary Accessions:
    • B7ZKR2
    • E9PF67
    • Q3MIW3

    Protein attributes for SLC9A3 Gene

    Size:
    834 amino acids
    Molecular mass:
    92855 Da
    Quaternary structure:
    • Binds SLC9A3R1 and SLC9A3R2. Interacts with CHP1, CHP2 and SHANK2. Interacts with PDZK1 (via C-terminal PDZ domain) (By similarity). Interacts with PDZD3 and interactions decrease in response to elevated calcium ion levels. Interacts with AHCYL1; the interaction is required for SLC9A3 activity (PubMed:18829453, PubMed:20584908).

    Alternative splice isoforms for SLC9A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC9A3 Gene

Post-translational modifications for SLC9A3 Gene

  • Phosphorylated by PKA, which inhibits activity. Phosphorylation at Ser-663 by SGK1 is associated with increased abundance at the cell membrane.
  • Glycosylation at isoforms=2241 and isoforms=2326
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC9A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC9A3 Gene

Domains & Families for SLC9A3 Gene

Gene Families for SLC9A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

P48764

UniProtKB/Swiss-Prot:

SL9A3_HUMAN :
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
Family:
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
genes like me logo Genes that share domains with SLC9A3: view

Function for SLC9A3 Gene

Molecular function for SLC9A3 Gene

GENATLAS Biochemistry:
solute carrier protein family 9 (sodium/hydrogen exchange),member 3,involved in intracellular pH regulation and cell volume,isoform 3B,apical epithelium,expressed in kidney,gastrointestinal tract (amiloride insensitive)
UniProtKB/Swiss-Prot Function:
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient (PubMed:26358773). Plays an important role in signal transduction.

Phenotypes From GWAS Catalog for SLC9A3 Gene

Gene Ontology (GO) - Molecular Function for SLC9A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16159897
GO:0015297 antiporter activity IEA --
GO:0015299 solute:proton antiporter activity IEA --
GO:0015385 sodium:proton antiporter activity TAS --
GO:0015386 potassium:proton antiporter activity IBA --
genes like me logo Genes that share ontologies with SLC9A3: view
genes like me logo Genes that share phenotypes with SLC9A3: view

Human Phenotype Ontology for SLC9A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC9A3 Gene

MGI Knock Outs for SLC9A3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC9A3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC9A3 Gene

Localization for SLC9A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A3 Gene

Apical cell membrane; Multi-pass membrane protein. Note=In intestinal epithelial cells, localizes to the ileal brush border. Phosphorylation at Ser-663 by SGK1 is associated with increased abundance at the cell membrane. Angiotensin-2 enhances apical expression (By similarity). {ECO:0000250 UniProtKB:Q28362}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC9A3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
endosome 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC9A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005903 brush border ISS --
GO:0009986 cell surface ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC9A3: view

Pathways & Interactions for SLC9A3 Gene

genes like me logo Genes that share pathways with SLC9A3: view

Gene Ontology (GO) - Biological Process for SLC9A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006885 regulation of pH IEA --
genes like me logo Genes that share ontologies with SLC9A3: view

No data available for SIGNOR curated interactions for SLC9A3 Gene

Drugs & Compounds for SLC9A3 Gene

(40) Drugs for SLC9A3 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cariporide Pharma Potent NHE inhibitor 0

(20) Additional Compounds for SLC9A3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(1) ApexBio Compounds for SLC9A3 Gene

Compound Action Cas Number
CARIPORIDE Potent NHE inhibitor 159138-80-4
genes like me logo Genes that share compounds with SLC9A3: view

Drug Products

Transcripts for SLC9A3 Gene

mRNA/cDNA for SLC9A3 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC9A3 Gene

Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC9A3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A3 Gene

No ASD Table

Relevant External Links for SLC9A3 Gene

GeneLoc Exon Structure for
SLC9A3
ECgene alternative splicing isoforms for
SLC9A3

Expression for SLC9A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC9A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC9A3 Gene

This gene is overexpressed in Colon - Transverse (x8.4), Kidney - Cortex (x7.2), and Stomach (x6.6).

Protein differential expression in normal tissues from HIPED for SLC9A3 Gene

This gene is overexpressed in Fetal gut (37.4), Kidney (25.3), and Urine (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC9A3 Gene



Protein tissue co-expression partners for SLC9A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC9A3 Gene:

SLC9A3

SOURCE GeneReport for Unigene cluster for SLC9A3 Gene:

Hs.658120

Evidence on tissue expression from TISSUES for SLC9A3 Gene

  • Kidney(4.7)
  • Intestine(4.6)
  • Gall bladder(3.2)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with SLC9A3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9A3 Gene

Orthologs for SLC9A3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC9A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC9A3 33 34
  • 95.25 (n)
cow
(Bos Taurus)
Mammalia SLC9A3 33 34
  • 87.26 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC9A3 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc9a3 33
  • 85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A3 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a3 33 16 34
  • 84.26 (n)
dog
(Canis familiaris)
Mammalia SLC9A3 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC9A3 33 34
  • 71.26 (n)
lizard
(Anolis carolinensis)
Reptilia SLC9A3 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492870 33
  • 66.04 (n)
zebrafish
(Danio rerio)
Actinopterygii slc9a3.1 33 34
  • 61.55 (n)
slc9a3.2 34
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhx-9 35
  • 45 (a)
nhx-3 35
  • 44 (a)
nhx-6 35
  • 40 (a)
nhx-2 35
  • 39 (a)
nhx-7 35
  • 32 (a)
pbo-4 34
  • 29 (a)
ManyToMany
nhx-4 34
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHX1 34
  • 22 (a)
OneToMany
Species where no ortholog for SLC9A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC9A3 Gene

ENSEMBL:
Gene Tree for SLC9A3 (if available)
TreeFam:
Gene Tree for SLC9A3 (if available)

Paralogs for SLC9A3 Gene

Paralogs for SLC9A3 Gene

(6) SIMAP similar genes for SLC9A3 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SLC9A3 Gene

genes like me logo Genes that share paralogs with SLC9A3: view

Variants for SLC9A3 Gene

Sequence variations from dbSNP and Humsavar for SLC9A3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs766076524 Pathogenic, Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868] 483,270(+) TGGCC(C/T)GGTAC reference, missense
rs869312806 Pathogenic, Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868] 484,520(-) CCTCG(C/T)GTGAG reference, missense
rs869312807 Pathogenic, Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868] 484,647(-) TCTTC(A/G)CCTTC reference, missense
VAR_076419 Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868]
rs776026092 Pathogenic 491,931(+) CAGGT(-/AGA)AGAAG cds-indel

Structural Variations from Database of Genomic Variants (DGV) for SLC9A3 Gene

Variant ID Type Subtype PubMed ID
dgv3013n106 CNV deletion 24896259
dgv3014n106 CNV deletion 24896259
dgv9479n54 CNV gain 21841781
dgv9484n54 CNV gain 21841781
dgv9487n54 CNV loss 21841781
dgv9488n54 CNV gain 21841781
dgv9489n54 CNV loss 21841781
dgv9490n54 CNV loss 21841781
dgv9491n54 CNV loss 21841781
dgv9492n54 CNV loss 21841781
dgv9493n54 CNV loss 21841781
dgv9494n54 CNV gain 21841781
dgv9495n54 CNV loss 21841781
esv1003268 CNV deletion 20482838
esv1005209 CNV insertion 20482838
esv1092347 CNV deletion 17803354
esv1236919 CNV insertion 17803354
esv1337538 CNV deletion 17803354
esv1354613 CNV deletion 17803354
esv1638372 CNV deletion 17803354
esv1690608 CNV insertion 17803354
esv1709487 CNV insertion 17803354
esv1770003 CNV insertion 17803354
esv22420 CNV loss 19812545
esv23175 CNV gain+loss 19812545
esv2477798 CNV insertion 19546169
esv2577884 CNV deletion 19546169
esv2729310 CNV deletion 23290073
esv2729311 CNV deletion 23290073
esv2729312 CNV deletion 23290073
esv2729313 CNV deletion 23290073
esv2729314 CNV deletion 23290073
esv2729315 CNV deletion 23290073
esv2729316 CNV deletion 23290073
esv2752071 CNV gain 17911159
esv2759315 CNV loss 17122850
esv28080 CNV loss 19812545
esv28351 CNV gain 19812545
esv28621 CNV gain 19812545
esv3198 CNV loss 18987735
esv3295718 CNV deletion 24192839
esv3413748 CNV duplication 20981092
esv3445048 CNV duplication 20981092
esv3565300 CNV deletion 23714750
esv3565301 CNV deletion 23714750
esv3565304 CNV deletion 23714750
esv3565306 CNV deletion 23714750
esv3603744 CNV gain 21293372
esv3603747 CNV loss 21293372
esv3603748 CNV gain 21293372
esv3603750 CNV gain 21293372
esv3603751 CNV loss 21293372
esv3603752 CNV gain 21293372
esv3603753 CNV gain 21293372
esv3603754 CNV gain 21293372
esv3894107 CNV gain 25118596
esv4637 CNV loss 18987735
esv4866 CNV loss 18987735
esv990425 CNV deletion 20482838
nsv1019215 CNV gain 25217958
nsv1027279 CNV gain 25217958
nsv1032584 CNV gain 25217958
nsv10648 CNV gain 18304495
nsv10649 CNV gain 18304495
nsv10651 CNV gain 18304495
nsv1073836 CNV deletion 25765185
nsv1073837 CNV deletion 25765185
nsv1074792 CNV deletion 25765185
nsv1121636 CNV deletion 24896259
nsv1123898 CNV deletion 24896259
nsv1130829 CNV deletion 24896259
nsv1133013 OTHER inversion 24896259
nsv1142624 CNV deletion 24896259
nsv1147234 OTHER inversion 26484159
nsv1150294 CNV deletion 26484159
nsv1151870 CNV insertion 26484159
nsv1152568 CNV deletion 26484159
nsv1153729 CNV deletion 26484159
nsv328215 CNV insertion 16902084
nsv329001 CNV deletion 16902084
nsv461889 CNV gain 19166990
nsv461890 CNV gain 19166990
nsv4674 CNV insertion 18451855
nsv472185 CNV novel sequence insertion 20440878
nsv509042 CNV insertion 20534489
nsv513206 CNV loss 21212237
nsv519778 CNV loss 19592680
nsv521554 CNV loss 19592680
nsv527666 CNV loss 19592680
nsv596626 CNV gain 21841781
nsv596628 CNV gain 21841781
nsv596629 CNV gain 21841781
nsv596640 CNV gain+loss 21841781
nsv596655 CNV loss 21841781
nsv596676 CNV gain 21841781
nsv596685 CNV gain 21841781
nsv596691 CNV loss 21841781
nsv596696 CNV loss 21841781
nsv596699 CNV gain 21841781
nsv596701 CNV loss 21841781
nsv821281 CNV deletion 20802225
nsv822926 CNV gain 20364138
nsv822927 CNV gain 20364138
nsv830183 CNV gain+loss 17160897

Variation tolerance for SLC9A3 Gene

Residual Variation Intolerance Score: 52.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC9A3 Gene

Human Gene Mutation Database (HGMD)
SLC9A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A3 Gene

Disorders for SLC9A3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for SLC9A3 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diarrhea 8, secretory sodium, congenital
  • congenital secretory sodium diarrhea 8
diarrhea 3, secretory sodium, congenital, syndromic
  • congenital secretory sodium diarrhea 3
diarrhea
  • diarrhea of presumed infectious origin
secretory diarrhea
microvillus inclusion disease
  • diarrhea with microvillus atrophy 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SL9A3_HUMAN
  • Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868]: A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations. {ECO:0000269 PubMed:26358773}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC9A3

Genetic Association Database (GAD)
SLC9A3
Human Genome Epidemiology (HuGE) Navigator
SLC9A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC9A3
genes like me logo Genes that share disorders with SLC9A3: view

No data available for Genatlas for SLC9A3 Gene

Publications for SLC9A3 Gene

  1. Impact of sodium/proton exchanger 3 gene variants on sudden infant death syndrome. (PMID: 19772970) Poetsch M … Bajanowski T (The Journal of pediatrics 2010) 3 22 45 60
  2. Molecular variants of the sodium/hydrogen exchanger type 3 gene and essential hypertension. (PMID: 15201541) Zhu H … MacGregor GA (Journal of hypertension 2004) 3 22 45 60
  3. Cloning, tissue distribution, and functional analysis of the human Na+/N+ exchanger isoform, NHE3. (PMID: 7631746) Brant SR … Tse CM (The American journal of physiology 1995) 3 4 22 60
  4. Physical and genetic mapping of a human apical epithelial Na+/H+ exchanger (NHE3) isoform to chromosome 5p15.3. (PMID: 8096830) Brant SR … Tse CM (Genomics 1993) 2 3 22 60
  5. Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. (PMID: 26358773) Janecke AR … Müller T (Human molecular genetics 2015) 3 4 60

Products for SLC9A3 Gene

Sources for SLC9A3 Gene

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