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The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
SLC22A12 (Solute Carrier Family 22 Member 12) is a Protein Coding gene. Diseases associated with SLC22A12 include Hypouricemia, Renal, 1 and Hyperuricemia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Uricosurics Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and urate transmembrane transporter activity. An important paralog of this gene is SLC22A11.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015143 | urate transmembrane transporter activity | TAS | -- |
GO:0022857 | transmembrane transporter activity | IEA | -- |
GO:0030165 | PDZ domain binding | IPI | 15304510 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IDA | 12024214 |
GO:0016324 | apical plasma membrane | IDA | 12024214 |
GO:0031526 | brush border membrane | NAS | 12024214 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
2 | Uricosurics Pathway, Pharmacodynamics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0015711 | organic anion transport | IBA | 21873635 |
GO:0015747 | urate transport | IDA | 12024214 |
GO:0019725 | cellular homeostasis | NAS | 15772301 |
GO:0042493 | response to drug | IDA | 12024214 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Lesinurad | Approved, Investigational | Pharma | Target, inhibitor | URAT1 inhibitor | 22 | |
Losartan | Approved | Pharma | Transporter, inhibitor | 362 | ||
Probenecid | Approved, Investigational | Pharma | Transporter, inhibitor | 45 | ||
Favipiravir | Approved, Investigational | Pharma | Transporter, inhibitor | 0 | ||
Sulfinpyrazone | Approved | Pharma | Target, inhibitor | 0 |
Compound | Action | Cas Number |
---|---|---|
Lesinurad | URAT1 inhibitor | 878672-00-5 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC22A12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC22A12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC22A12 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc22a12 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc22a12 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8654 32 |
|
|
|
CG6126 32 |
|
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
858904 | Uncertain Significance: not provided | 64,599,876(+) |
C/T NM_144585.4(SLC22A12):c.1271C>T (p.Thr424Met) |
MISSENSE | |
871581 | Pathogenic: not provided | 64,599,701(+) |
G/C NM_144585.4(SLC22A12):c.1096G>C (p.Gly366Arg) |
MISSENSE | |
877259 | Uncertain Significance: Familial renal hypouricemia | 64,593,703(+) |
G/A NM_144585.4(SLC22A12):c.730G>A (p.Gly244Ser) |
MISSENSE_VARIANT,INTRON | |
877260 | Uncertain Significance: Familial renal hypouricemia | 64,593,771(+) |
G/A NM_144585.4(SLC22A12):c.798G>A (p.Ser266=) |
SYNONYMOUS_VARIANT,INTRON | |
877261 | Uncertain Significance: Familial renal hypouricemia | 64,598,897(+) |
C/T NM_144585.4(SLC22A12):c.1044C>T (p.Phe348=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1965n54 | CNV | loss | 21841781 |
esv2422214 | CNV | deletion | 17116639 |
esv2744627 | CNV | deletion | 23290073 |
nsv1113399 | CNV | deletion | 24896259 |
nsv1122630 | CNV | deletion | 24896259 |
nsv1142115 | CNV | tandem duplication | 24896259 |
nsv1149041 | CNV | insertion | 26484159 |
nsv528506 | CNV | loss | 19592680 |
nsv555197 | CNV | loss | 21841781 |
nsv818842 | CNV | gain | 17921354 |
nsv832188 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypouricemia, renal, 1 |
|
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hyperuricemia |
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gout |
|
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nephrolithiasis, uric acid |
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nephrolithiasis |
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