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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 2016]
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.
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 |
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 | -- |
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
|
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 | -- |
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 |
Compound | Action | Cas Number |
---|---|---|
CARIPORIDE | Potent NHE inhibitor | 159138-80-4 |
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 |
|
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
diarrhea 1, secretory chloride, congenital |
|
|
short bowel syndrome |
|
|
motility-related diarrhea |
|
|
mucopolysaccharidosis, type ix |
|
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osmotic diarrhea |
|
|