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Aliases for SLC9A3 Gene

Aliases for SLC9A3 Gene

  • Solute Carrier Family 9 Member A3 2 3
  • Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 2 3 5
  • 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
  • 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 3, secretory sodium, congenital, syndromic and diarrhea. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. GO annotations related to this gene include PDZ domain binding and sodium:proton antiporter activity. An important paralog of this gene is SLC9A4.

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. Plays an important role in signal transduction.

Gene Wiki entry for SLC9A3 Gene

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

Genomics for SLC9A3 Gene

Regulatory Elements for SLC9A3 Gene

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

Proteomics data for SLC9A3 Gene at MOPED

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 Asn 241 and Asn 326
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC9A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC9A3 Gene

Domains & Families for SLC9A3 Gene

Gene Families for SLC9A3 Gene

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. Plays an important role in signal transduction.

Gene Ontology (GO) - Molecular Function for SLC9A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015299 solute:proton antiporter activity IEA --
genes like me logo Genes that share ontologies with SLC9A3: view
genes like me logo Genes that share phenotypes with SLC9A3: view

Animal Models for SLC9A3 Gene

MGI Knock Outs for SLC9A3:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Jensen Localization Image for SLC9A3 Gene COMPARTMENTS Subcellular localization image for SLC9A3 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
endosome 2
vacuole 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC9A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016324 apical plasma membrane ISS --
GO:0031988 membrane-bounded vesicle 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:0006812 cation transport IEA --
GO:0007623 circadian rhythm IEA --
GO:0051384 response to glucocorticoid IEA --
GO:0055085 transmembrane transport 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

(34) Drugs for SLC9A3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(26) 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
genes like me logo Genes that share compounds with SLC9A3: view

Transcripts for SLC9A3 Gene

mRNA/cDNA for SLC9A3 Gene

(6) 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:

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 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



SOURCE GeneReport for Unigene cluster for SLC9A3 Gene Hs.658120

genes like me logo Genes that share expression patterns with SLC9A3: view

Protein tissue co-expression partners for SLC9A3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia SLC9A3 35
  • 87.26 (n)
  • 88.1 (a)
SLC9A3 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a3 35
  • 84.26 (n)
  • 91.56 (a)
Slc9a3 16
Slc9a3 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC9A3 35
  • 95.25 (n)
  • 94.99 (a)
SLC9A3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc9a3 35
  • 85 (n)
  • 91.27 (a)
dog
(Canis familiaris)
Mammalia SLC9A3 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A3 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC9A3 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC9A3 35
  • 71.26 (n)
  • 82.96 (a)
SLC9A3 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC9A3 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492870 35
  • 66.04 (n)
  • 76.95 (a)
zebrafish
(Danio rerio)
Actinopterygii slc9a3.1 35
  • 61.55 (n)
  • 56.23 (a)
slc9a3.1 36
  • 51 (a)
OneToMany
slc9a3.2 36
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhx-2 37
  • 39 (a)
nhx-3 37
  • 44 (a)
nhx-6 37
  • 40 (a)
nhx-7 37
  • 32 (a)
nhx-9 37
  • 45 (a)
nhx-4 36
  • 24 (a)
ManyToMany
pbo-4 36
  • 29 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHX1 36
  • 22 (a)
OneToMany
Species with no ortholog for SLC9A3:
  • 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
VAR_060593 -
rs925693 -- 516,262(-) GGGGA(A/T)CCCAC intron-variant
rs772654 -- 539,195(+) GGCTC(G/T)CTGGG intron-variant
rs772655 -- 539,345(+) AGTCG(C/T)TGCAT intron-variant
rs772656 -- 539,714(+) CTGTG(C/T)GCATG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1733e1 CNV Complex 17122850
nsv880815 CNV Loss 21882294
nsv830183 CNV Gain+Loss 17160897
esv2752071 CNV Gain 17911159
dgv5880n71 CNV Loss 21882294
nsv881301 CNV Gain 21882294
dgv5881n71 CNV Gain 21882294
dgv5882n71 CNV Loss 21882294
nsv880710 CNV Loss 21882294
nsv881627 CNV Loss 21882294
nsv461889 CNV Gain 19166990
nsv881561 CNV Gain 21882294
nsv461890 CNV Gain 19166990
dgv5883n71 CNV Gain 21882294
dgv5884n71 CNV Gain 21882294
nsv4674 CNV Insertion 18451855
nsv527666 CNV Loss 19592680
dgv5885n71 CNV Loss 21882294
dgv5886n71 CNV Loss 21882294
dgv5887n71 CNV Loss 21882294
nsv881305 CNV Loss 21882294
nsv880308 CNV Loss 21882294
dgv5888n71 CNV Loss 21882294
nsv822926 CNV Gain 20364138
esv22420 CNV Loss 19812545
esv23175 CNV Gain+Loss 19812545
esv1236919 CNV Insertion 17803354
esv1638372 CNV Deletion 17803354
esv1003268 CNV Deletion 20482838
nsv521554 CNV Loss 19592680
nsv880336 CNV Gain 21882294
nsv519778 CNV Loss 19592680
nsv881493 CNV Loss 21882294
nsv822927 CNV Gain 20364138
nsv509042 CNV Insertion 20534489
esv4866 CNV Deletion 18987735
esv990425 CNV Deletion 20482838
esv1337538 CNV Deletion 17803354
esv2577884 CNV Deletion 19546169
esv3198 CNV Deletion 18987735
nsv821281 CNV Deletion 20802225
esv28351 CNV Gain 19812545
nsv513206 CNV Loss 21212237
esv1092347 CNV Deletion 17803354
nsv10648 CNV Gain 18304495
nsv880819 CNV Loss 21882294
nsv328215 CNV Insertion 16902084
esv28621 CNV Gain 19812545
nsv329001 CNV Loss 16902084
nsv10649 CNV Gain 18304495
esv1354613 CNV Deletion 17803354
esv28080 CNV Loss 19812545
nsv881103 CNV Gain 21882294
esv4637 CNV Deletion 18987735
esv2729310 CNV Deletion 23290073
esv2729311 CNV Deletion 23290073
esv2477798 CNV Insertion 19546169
esv1005209 CNV Insertion 20482838
esv1690608 CNV Insertion 17803354
esv2729312 CNV Deletion 23290073
esv1709487 CNV Insertion 17803354
esv1770003 CNV Insertion 17803354
esv2729313 CNV Deletion 23290073
esv2729314 CNV Deletion 23290073
nsv881051 CNV Gain 21882294
esv2729315 CNV Deletion 23290073
esv2729316 CNV Deletion 23290073
nsv881513 CNV Loss 21882294
nsv10651 CNV Gain 18304495

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

HapMap Linkage Disequilibrium report
SLC9A3
Human Gene Mutation Database (HGMD)
SLC9A3

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

Disorders for SLC9A3 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SLC9A3 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diarrhea 3, secretory sodium, congenital, syndromic
  • congenital syndromic diarrhea 3, secretory sodium
diarrhea
  • diarrhea of presumed infectious origin
acute urate nephropathy
  • uric acid nephrolithiasis
leptospirosis
  • fort bragg fever
proximal renal tubular acidosis
  • renal tubular acidosis type 2
- elite association - COSMIC cancer census association via MalaCards

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 UniProtKB/Swiss-Prot and Genatlas for SLC9A3 Gene

Publications for SLC9A3 Gene

  1. Cloning, tissue distribution, and functional analysis of the human Na+/N+ exchanger isoform, NHE3. (PMID: 7631746) Brant S.R. … Tse C.-M. (Am. J. Physiol. 1995) 3 4 23 67
  2. Physical and genetic mapping of a human apical epithelial Na+/H+ exchanger (NHE3) isoform to chromosome 5p15.3. (PMID: 8096830) Brant S.R. … Tse C.M. (Genomics 1993) 2 3 23
  3. Impact of sodium/proton exchanger 3 gene variants on sudden infant death syndrome. (PMID: 19772970) Poetsch M. … Bajanowski T. (J. Pediatr. 2010) 3 23
  4. Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1. (PMID: 19926819) Musch M.W. … Chang E.B. (Am. J. Physiol. Gastrointest. Liver Physiol. 2010) 3 23
  5. Transcriptional regulation of the human Na+/H+ exchanger NHE3 by serotonin in intestinal epithelial cells. (PMID: 19303862) Amin M.R. … Malakooti J. (Biochem. Biophys. Res. Commun. 2009) 3 23

Products for SLC9A3 Gene

Sources for SLC9A3 Gene

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