SLC9A2 Gene (Protein Coding)

Solute Carrier Family 9 Member A2

GC02P102620
GIFtS:
42
This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2... See more...

Aliases for SLC9A2 Gene

Aliases for SLC9A2 Gene

  • Solute Carrier Family 9 Member A2 2 3 5
  • Solute Carrier Family 9, Subfamily A (NHE2, Cation Proton Antiporter 2), Member 2 2 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 2 2 3
  • Sodium/Hydrogen Exchanger 2 3 4
  • Na(+)/H(+) Exchanger 2 3 4
  • NHE2 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 2 2
  • Solute Carrier Family 9 Member 2 4
  • SLC9A2 5
  • NHE-2 4

External Ids for SLC9A2 Gene

Previous HGNC Symbols for SLC9A2 Gene

  • NHE2

Previous GeneCards Identifiers for SLC9A2 Gene

  • GC02P101100
  • GC02P101688
  • GC02P102840
  • GC02P102857
  • GC02P102694
  • GC02P103236
  • GC02P097000

Summaries for SLC9A2 Gene

Entrez Gene Summary for SLC9A2 Gene

  • This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]

GeneCards Summary for SLC9A2 Gene

SLC9A2 (Solute Carrier Family 9 Member A2) is a Protein Coding gene. Diseases associated with SLC9A2 include Diarrhea 1, Secretory Chloride, Congenital and Short Bowel Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ADP signalling through P2Y purinoceptor 12. Gene Ontology (GO) annotations related to this gene include solute:proton antiporter activity and sodium:proton antiporter activity. An important paralog of this gene is SLC9A4.

UniProtKB/Swiss-Prot Summary for SLC9A2 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. Seems to play an important role in colonic sodium absorption.

Gene Wiki entry for SLC9A2 Gene

Additional gene information for SLC9A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9A2 Gene

Genomics for SLC9A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLC9A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC9A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9A2

Top Transcription factor binding sites by QIAGEN in the SLC9A2 gene promoter:
  • AhR
  • AP-2gamma
  • AREB6
  • C/EBPalpha
  • Egr-1
  • N-Myc
  • NRSF form 1
  • NRSF form 2
  • SRF
  • SRF (504 AA)

Genomic Locations for SLC9A2 Gene

Latest Assembly
chr2:102,619,553-102,711,355
(GRCh38/hg38)
Size:
91,803 bases
Orientation:
Plus strand

Previous Assembly
chr2:103,236,012-103,327,814
(GRCh37/hg19 by Entrez Gene)
Size:
91,803 bases
Orientation:
Plus strand

chr2:103,236,166-103,327,777
(GRCh37/hg19 by Ensembl)
Size:
91,612 bases
Orientation:
Plus strand

Genomic View for SLC9A2 Gene

Genes around SLC9A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC9A2 Gene

Proteins for SLC9A2 Gene

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  • Protein details for SLC9A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBY0-SL9A2_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 2
    Protein Accession:
    Q9UBY0
    Secondary Accessions:
    • B2RMS2

    Protein attributes for SLC9A2 Gene

    Size:
    812 amino acids
    Molecular mass:
    91520 Da
    Quaternary structure:
    • Interacts with CHP1 and CHP2.

neXtProt entry for SLC9A2 Gene

Protein Expression for SLC9A2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC9A2 Gene

Other Protein References for SLC9A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC9A2 Gene

Domains & Families for SLC9A2 Gene

Gene Families for SLC9A2 Gene

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

Protein Domains for SLC9A2 Gene

InterPro:
Blocks:
  • Na+/H+ exchanger signature
  • Sodium/hydrogen exchanger
  • Na+/H+ exchanger isoform 2 (NHE2) signature
ProtoNet:

Suggested Antigen Peptide Sequences for SLC9A2 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 9 member 2 (SL9A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBY0

UniProtKB/Swiss-Prot:

SL9A2_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 SLC9A2: view

Function for SLC9A2 Gene

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Molecular function for SLC9A2 Gene

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. Seems to play an important role in colonic sodium absorption.
GENATLAS Biochemistry:
solute carrier protein family 9 (sodium/hydrogen exchange),member 4,,involved in intracellular pH regulation and cell volume,isoform 2 (amiloride sensitive),expressed in brain,intestinal villi,distal convoluted tubules and other tissues

Phenotypes From GWAS Catalog for SLC9A2 Gene

Gene Ontology (GO) - Molecular Function for SLC9A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015297 antiporter activity IEA --
GO:0015299 solute:proton antiporter activity IEA --
GO:0015385 sodium:proton antiporter activity TAS,IBA 21873635
GO:0015386 potassium:proton antiporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC9A2: view
genes like me logo Genes that share phenotypes with SLC9A2: view

Animal Models for SLC9A2 Gene

MGI Knock Outs for SLC9A2:

Animal Models for research

miRNA for SLC9A2 Gene

miRTarBase miRNAs that target SLC9A2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC9A2 Gene

Localization for SLC9A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A2 Gene

Membrane. Multi-pass membrane protein.

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 SLC9A2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC9A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
genes like me logo Genes that share ontologies with SLC9A2: view

Pathways & Interactions for SLC9A2 Gene

genes like me logo Genes that share pathways with SLC9A2: view

Pathways by source for SLC9A2 Gene

1 PharmGKB pathway for SLC9A2 Gene
3 Qiagen pathways for SLC9A2 Gene
  • G12-G13 in Cellular Signaling
  • Intracellular Calcium Signaling
  • PDGF Pathway

Gene Ontology (GO) - Biological Process for SLC9A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006885 regulation of pH IEA --
GO:0008104 protein localization IEA --
genes like me logo Genes that share ontologies with SLC9A2: view

No data available for SIGNOR curated interactions for SLC9A2 Gene

Drugs & Compounds for SLC9A2 Gene

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(6) Drugs for SLC9A2 Gene - From: ApexBio and Novoseek

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

(3) Additional Compounds for SLC9A2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
 7440-23-5

(1) ApexBio Compounds for SLC9A2 Gene

Compound Action Cas Number
CARIPORIDE Potent NHE inhibitor 159138-80-4
genes like me logo Genes that share compounds with SLC9A2: view

Drug products for research

Transcripts for SLC9A2 Gene

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mRNA/cDNA for SLC9A2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A2

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A2 Gene

No ASD Table

Relevant External Links for SLC9A2 Gene

GeneLoc Exon Structure for
SLC9A2

Expression for SLC9A2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC9A2 Gene

mRNA expression in normal human tissues for SLC9A2 Gene
mRNA expression by GTEx for SLC9A2 GenemRNA expression by BioGPS for SLC9A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC9A2 Gene

This gene is overexpressed in Colon - Transverse (x14.8) and Stomach (x9.0).

Protein differential expression in normal tissues from HIPED for SLC9A2 Gene

This gene is overexpressed in Colon (51.9) and Fetal Brain (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC9A2 Gene



Protein tissue co-expression partners for SLC9A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9A2

SOURCE GeneReport for Unigene cluster for SLC9A2 Gene:

Hs.250083

mRNA Expression by UniProt/SwissProt for SLC9A2 Gene:

Q9UBY0-SL9A2_HUMAN
Tissue specificity: Expressed in skeletal muscle, colon and kidney. Lower levels in the testis, prostate, ovary, and small intestine.

Evidence on tissue expression from TISSUES for SLC9A2 Gene

  • Intestine(4.5)
  • Liver(3.5)
  • Stomach(2.6)
  • Eye(2.6)
  • Kidney(2.3)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with SLC9A2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9A2 Gene

Orthologs for SLC9A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC9A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SLC9A2 30 31
  • 99.71 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC9A2 30 31
  • 89.39 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SLC9A2 30 31
  • 86.01 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SLC9A2 31
  • 86 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Slc9a2 30 17 31
  • 84.81 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Slc9a2 30
  • 84.01 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia SLC9A2 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SLC9A2 30 31
  • 74.17 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC9A2 31
  • 74 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC101732511 30
  • 70.24 (n)
Zebrafish
(Danio rerio)
 Actinopterygii slc9a2 30 31
  • 58.53 (n)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Nhe2 31
  • 24 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea nhx-1 31
  • 39 (a)
 ManyToMany
nhx-9 31 32
  • 36 (a)
 ManyToMany
nhx-6 31 32
  • 36 (a)
 ManyToMany
nhx-2 31 32
  • 36 (a)
 ManyToMany
nhx-3 31 32
  • 35 (a)
 ManyToMany
nhx-7 32
  • 35 (a)
Species where no ortholog for SLC9A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 Vase (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 SLC9A2 Gene

ENSEMBL:
Gene Tree for SLC9A2 (if available)
TreeFam:
Gene Tree for SLC9A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9A2: view image

Paralogs for SLC9A2 Gene

Paralogs for SLC9A2 Gene

(5) SIMAP similar genes for SLC9A2 Gene using alignment to 1 proteins:

  • SL9A2_HUMAN

Pseudogenes.org Pseudogenes for SLC9A2 Gene

genes like me logo Genes that share paralogs with SLC9A2: view

Variants for SLC9A2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC9A2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1386751319 A breast cancer sample p.Thr299Ser
rs864309496 Uncertain Significance: Acute megakaryoblastic leukemia; Mediastinal germ cell tumor 102,708,217(+) TC/T
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs) 		FRAMESHIFT
VAR_035965 A breast cancer sample p.Arg806Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC9A2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC9A2 Gene

Variant ID Type Subtype PubMed ID
dgv1983n106 CNV deletion 24896259
esv1033494 CNV insertion 17803354
esv2417258 CNV deletion 18987734
esv2584069 CNV deletion 19546169
esv2720463 CNV deletion 23290073
esv3559866 CNV deletion 23714750
esv8909 CNV loss 19470904
nsv214011 CNV deletion 16902084
nsv954715 CNV deletion 24416366

Variation tolerance for SLC9A2 Gene

Residual Variation Intolerance Score: 4.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9A2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A2 Gene

Disorders for SLC9A2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SLC9A2 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC9A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC9A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9A2 Gene

Publications for SLC9A2 Gene

  1. Molecular cloning, tissue distribution, and functional expression of the human Na(+)/H(+) exchanger NHE2. (PMID: 10444453) Malakooti J … Ramaswamy K (The American journal of physiology 1999) 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Functional coupling of the downregulated in adenoma Cl-/base exchanger DRA and the apical Na+/H+ exchangers NHE2 and NHE3. (PMID: 19056765) Musch MW … Chang EB (American journal of physiology. Gastrointestinal and liver physiology 2009) 3 23
  4. Morphological adaptation with preserved proliferation/transporter content in the colon of patients with short bowel syndrome. (PMID: 19389806) Joly F … Thomas M (American journal of physiology. Gastrointestinal and liver physiology 2009) 3 23
  5. NHE1, NHE2, and NHE4 contribute to regulation of cell pH in T84 colon cancer cells. (PMID: 17943310) Beltrán AR … Malnic G (Pflugers Archiv : European journal of physiology 2008) 3 23

ExternalLinks

View latest publications for SLC9A2 gene in Mastermind

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Sources for SLC9A2 Gene