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This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010]
SLC22A8 (Solute Carrier Family 22 Member 8) is a Protein Coding gene. Diseases associated with SLC22A8 include Gout and Methotrexate Toxicity. Among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity and ion transmembrane transporter activity. An important paralog of this gene is SLC22A6.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11J063015 | Promoter/Enhancer | 0.9 | EPDnew Ensembl | 250.7 | -1.0 | -960 | 2.8 | CTCF TBP NR2F6 RCOR1 GATA2 ZBTB8A HLF CHD2 PRDM10 ZNF579 | SLC22A8 lnc-SLC22A8-2 ENSG00000256041 SLC22A10 | |
GH11J063245 | Enhancer | 0.8 | dbSUPER | 10.6 | -231.7 | -231699 | 3.3 | CEBPA FOXA1 FOXA2 MAFF SMAD4 SAP130 RXRA MIER3 RARA TEAD3 | SLC22A8 SLC22A9 SLC22A25 HSALNG0084689 LOC105369334 lnc-SLC22A25-1 SLC22A10 | |
GH11J062896 | Enhancer | 0.4 | Ensembl dbSUPER | 11 | +119.3 | 119340 | 0.6 | NR2F2 | SLC22A8 ROM1 HSALNG0084674 LOC105369333 CHRM1 SLC3A2 | |
GH11J062895 | Enhancer | 0.4 | Ensembl dbSUPER | 11 | +120.0 | 120040 | 0.4 | GLIS1 | SLC22A8 TMEM223 HSALNG0084674 LOC105369333 CHRM1 SLC3A2 | |
GH11J062899 | Enhancer | 0.3 | Ensembl | 11 | +116.7 | 116740 | 0.2 | RFX1 | SLC22A8 LOC105369333 HSALNG0084674 CHRM1 SLC3A2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005452 | inorganic anion exchanger activity | IDA | 15037815 |
GO:0022857 | transmembrane transporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016323 | basolateral plasma membrane | ISS | 18619525 |
GO:0016324 | apical plasma membrane | ISS | 18619525 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0009636 | response to toxic substance | IEA | -- |
GO:0015698 | inorganic anion transport | IEA | -- |
GO:0055085 | transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Probenecid | Approved, Investigational | Pharma | Target, Transporter, inhibitor, blocker | 45 | ||
Cefotaxime | Approved | Pharma | Target, Transporter, inhibitor | 51 | ||
Cimetidine | Approved, Investigational | Pharma | Transporter, substrate, inhibitor | H2 receptor antagonist | 111 | |
Methotrexate | Approved | Pharma | Transporter, substrate, inhibitor | Folate antagonist,inhibits DFHR | 1874 | |
Penicillin G | Approved, Vet_approved | Pharma | Target, Transporter, substrate, inhibitor | 48 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC22A8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC22A8 30 |
|
||
OAT3 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | SLC22A8 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc22a8 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc22a8 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC22A8 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | slc22a6l 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MPH3 33 |
|
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11568487 | Benign: not provided | 62,993,276(-) |
G/T NM_004254.4(SLC22A8):c.1590C>A (p.Ile530=) |
SYNONYMOUS | |
rs45438191 | Benign: not provided. - | 62,996,072(-) |
A/Gp.Val281Ala NM_004254.4(SLC22A8):c.842T>C (p.Val281Ala) |
MISSENSE | |
rs755672955 | Likely Benign: not provided | 62,994,728(-) |
A/G NM_004254.4(SLC22A8):c.1030T>C (p.Leu344=) |
SYNONYMOUS | |
rs11568479 | - |
p.Phe129Leu |
|||
rs11568482 | - |
p.Ile305Phe |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv204e214 | CNV | gain | 21293372 |
esv34011 | CNV | loss | 18971310 |
Disorder | Aliases | PubMed IDs |
---|---|---|
gout |
|
|
methotrexate toxicity |
|
|
fanconi syndrome |
|
|