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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
External Ids for SLC9A2 Gene
- HGNC: 11072
- Entrez Gene: 6549
- Ensembl: ENSG00000115616
- OMIM: 600530
- UniProtKB: Q9UBY0
Previous HGNC Symbols for SLC9A2 Gene
- NHE2
Previous GeneCards Identifiers for SLC9A2 Gene
- GC02P101100
- GC02P101688
- GC02P102840
- GC02P102857
- GC02P103236
- GC02P097000
Summaries 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 Motility-Related Diarrhea. 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.
Additional gene information for SLC9A2 Gene
- HGNC(11072)
- Entrez Gene(6549)
- Ensembl(ENSG00000115616)
- OMIM(600530)
- UniProtKB(Q9UBY0)
- Open Targets Platform(ENSG00000115616)
- Search for SLC9A2 at DataMed
- Search for SLC9A2 at HumanCyc
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
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
Genomic Locations for SLC9A2 Gene
- chr2:102,619,553-102,711,355
- (GRCh38/hg38)
- Size:
- 91,803 bases
- Orientation:
- Plus strand
- chr2:103,236,166-103,327,809
- (GRCh37/hg19)
- Size:
- 91,644 bases
- Orientation:
- Plus strand
Genomic View for SLC9A2 Gene
Genes around SLC9A2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q12.1 by HGNC
- 2q12.1 by Entrez Gene
- 2q12.1 by Ensembl
SLC9A2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLC9A2 Gene
Proteins for SLC9A2 Gene
-
Protein details for SLC9A2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBY0-SL9A2_HUMAN
- Recommended name:
- Sodium/hydrogen exchanger 2
- Protein Accession:
- Q9UBY0
- B2RMS2
Protein attributes for SLC9A2 Gene
- Size:
- 812 amino acids
- Molecular mass:
- 91520 Da
- Quaternary structure:
-
- Interacts with CHP1 and CHP2.
Protein Expression for SLC9A2 Gene
Post-translational modifications for SLC9A2 Gene
Other Protein References for SLC9A2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ SLC9A2 Antibody
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- Creative Diagnostics Anti-SLC9A2 polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for SLC9A2
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- Invitrogen Antibodies for SLC9A2 (AFLGC-Slc9a2)
-
Boster Bio Antibodies for SLC9A2
Protein Products
-
OriGene Purified Proteins for SLC9A2
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC9A2
- Origene Custom Protein Services for SLC9A2
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
Q9UBY0UniProtKB/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.
Function for SLC9A2 Gene
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
| 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 |
Phenotypes for SLC9A2 Gene
- MGI mutant phenotypes for SLC9A2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SLC9A2:
Animal Models for SLC9A2 Gene
- MGI Knock Outs for SLC9A2:
-
- Slc9a2 Slc9a2<tm1Ges>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
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-
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miRNA for SLC9A2 Gene
- miRTarBase miRNAs that target SLC9A2
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for SLC9A2
- Addgene plasmids for SLC9A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC9A2
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Cell Junctions (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | TAS,IEA | -- |
Pathways & Interactions for SLC9A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 2 | ADP signalling through P2Y purinoceptor 12 | ||
| 3 | G12-G13 in Cellular Signaling |
G12-G13 in Cellular Signaling
-
|
|
| 4 | CREB Pathway |
Intracellular Calcium Signaling
.50
|
|
| 5 | TCR Signaling (Qiagen) |
PDGF Pathway
.39
|
|
Pathways by source for SLC9A2 Gene
4 Reactome pathways 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
Interacting Proteins for SLC9A2 Gene
GPS-Prot Interaction Network for SLC9A2
| 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 | -- |
No data available for SIGNOR curated interactions for SLC9A2 Gene
Drugs & Compounds for SLC9A2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Cariporide | Investigational | Pharma | Potent NHE inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 |
(1) ApexBio Compounds for SLC9A2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| CARIPORIDE | Potent NHE inhibitor | 159138-80-4 |
Transcripts for SLC9A2 Gene
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 :
-
- ENST00000233969 5601 nts (view in UCSC)
- ENST00000467657 398 nts (view in UCSC)
- ENST00000469286 584 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC9A2 - Select products 50% OFF >
- * SLC9A2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC9A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC9A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC9A2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC9A2
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Clone Products
- Applied Biological Materials (abm): Clones for SLC9A2 - Select products 50% OFF >
- * SLC9A2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC9A2
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC9A2
Relevant External Links for SLC9A2 Gene
- GeneLoc Exon Structure for
- SLC9A2
Expression for SLC9A2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Mesenchymal Condensate Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Mesenchymal Condensate Cells Zeugopod
-
Brain (Nervous System)
- Endothelial Cells Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Endothelial Cells Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Intermediate Mesoderm (Gastrulation Derivatives)
-
Colon (Gastrointestinal Tract)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9A2
SOURCE GeneReport for Unigene cluster for SLC9A2 Gene:
Hs.250083mRNA 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(4.6)
- Liver(3.5)
- Stomach(2.8)
- Eye(2.6)
- Kidney(2.5)
- Pancreas(2.2)
- Blood(2)
Primer Products
-
OriGene qPCR primer pairs for SLC9A2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC9A2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC9A2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC9A2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC9A2 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc9a2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc9a2 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC9A2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC9A2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC9A2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101732511 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc9a2 30 31 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Nhe2 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | nhx-1 31 |
|
ManyToMany | |
| nhx-9 31 32 |
|
ManyToMany | |||
| nhx-6 31 32 |
|
ManyToMany | |||
| nhx-2 31 32 |
|
ManyToMany | |||
| nhx-3 31 32 |
|
ManyToMany | |||
| nhx-7 32 |
|
|
- 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
Variants for SLC9A2 Gene
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 | FRAMESHIFT_VARIANT | |
| VAR_035965 | A breast cancer sample | p.Arg806Gln |
| 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 |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A2 Gene
Disorders for SLC9A2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diarrhea 1, secretory chloride, congenital |
|
|
| motility-related diarrhea |
|
|
| mucopolysaccharidosis, type ix |
|
|
| osmotic diarrhea |
|
|
| inflammatory diarrhea |
|
|
Search SLC9A2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SLC9A2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9A2 Gene
Publications for SLC9A2 Gene
- 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
- 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
- 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
- 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
- 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
Products for SLC9A2 Gene
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Sources for SLC9A2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
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