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SLC9A4 (Solute Carrier Family 9 Member A4) is a Protein Coding gene. Diseases associated with SLC9A4 include Pseudohypoaldosteronism, Type I, Autosomal Recessive. 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 SLC9A2.
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 | IBA | 21873635 |
GO:0015386 | potassium:proton antiporter activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005774 | vacuolar membrane | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016323 | basolateral plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
2 | Salivary secretion | ||
3 | ADP signalling through P2Y purinoceptor 12 | ||
4 | CREB Pathway |
Intracellular Calcium Signaling
.50
|
|
5 | TCR Signaling (Qiagen) |
PDGF Pathway
.39
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001696 | gastric acid secretion | IEA | -- |
GO:0002064 | epithelial cell development | IEA | -- |
GO:0006811 | ion transport | TAS | -- |
GO:0006812 | cation transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC9A4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC9A4 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Slc9a4 30 |
|
||
Cow (Bos Taurus) |
Mammalia | SLC9A4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc9a4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC9A4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC9A4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC9A4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc9a4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc9a2 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Nhe2 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | nhx-1 31 |
|
ManyToMany | |
nhx-9 31 |
|
ManyToMany | |||
nhx-6 31 |
|
ManyToMany | |||
nhx-2 31 |
|
ManyToMany | |||
nhx-3 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs79378995 | Benign: not provided | 102,473,809(+) |
T/C NM_001011552.4(SLC9A4):c.50T>C (p.Leu17Pro) |
MISSENSE | |
rs17027275 | - |
p.Gly116Ser |
|||
rs6742280 | - |
p.Ile581Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2667694 | CNV | deletion | 23128226 |
esv3583992 | CNV | loss | 25503493 |
esv3591793 | CNV | loss | 21293372 |
nsv1160831 | CNV | duplication | 26073780 |
nsv523406 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pseudohypoaldosteronism, type i, autosomal recessive |
|
|