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This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008] See more...
Aliases for SLCO1A2 Gene
Aliases for SLCO1A2 Gene
External Ids for SLCO1A2 Gene
- HGNC: 10956
- Entrez Gene: 6579
- Ensembl: ENSG00000084453
- OMIM: 602883
- UniProtKB: P46721
Previous HGNC Symbols for SLCO1A2 Gene
- SLC21A3
Previous GeneCards Identifiers for SLCO1A2 Gene
- GC12M021313
- GC12M021417
- GC12M021191
Summaries for SLCO1A2 Gene
-
This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
GeneCards Summary for SLCO1A2 Gene
SLCO1A2 (Solute Carrier Organic Anion Transporter Family Member 1A2) is a Protein Coding gene. Diseases associated with SLCO1A2 include Intrahepatic Cholestasis Of Pregnancy and Cholelithiasis. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Synthesis of bile acids and bile salts. Gene Ontology (GO) annotations related to this gene include transporter activity and organic anion transmembrane transporter activity. An important paralog of this gene is SLCO1C1.
UniProtKB/Swiss-Prot Summary for SLCO1A2 Gene
-
Mediates the Na(+)-independent transport of organic anions such as sulfobromophthalein (BSP) and conjugated (taurocholate) and unconjugated (cholate) bile acids (By similarity). Selectively inhibited by the grapefruit juice component naringin.
Additional gene information for SLCO1A2 Gene
- HGNC(10956)
- Entrez Gene(6579)
- Ensembl(ENSG00000084453)
- OMIM(602883)
- UniProtKB(P46721)
- Open Targets Platform(ENSG00000084453)
- Monarch Initiative
- Search for SLCO1A2 at DataMed
- Search for SLCO1A2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLCO1A2 Gene
Genomics for SLCO1A2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLCO1A2 Gene
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12J021323 | Promoter/Enhancer | 1 | EPDnew Ensembl ENCODE dbSUPER | 600.2 | +95.0 | 94970 | 2 | NANOG POU5F1 | SLCO1A2 IAPP piR-39858-114 lnc-SLCO1A2-1 SLCO1B1 | |
| GH12J021419 | Promoter | 0.9 | Ensembl | 600.7 | +0.1 | 93 | 0.6 | LEF1 IKZF1 PKNOX1 BRD9 ZNF24 SOX6 MGA ZNF184 POLR2A MTA3 | SLCO1A2 lnc-SLCO1A2-1 piR-46002-112 piR-57176-115 piR-45012-104 PYROXD1 IAPP | |
| GH12J021275 | Enhancer | 0.2 | FANTOM5 | 4.6 | +143.5 | 143546 | 0.1 | piR-51855-007 piR-60926 GYS2 SLCO1B1 SLCO1A2 SLCO1B3 KCNJ8 piR-40110-126 IAPP lnc-SLCO1A2-1 | ||
| GH12J021416 | Enhancer | 0.5 | Ensembl ENCODE | 0.7 | +3.2 | 3193 | 1.2 | SP1 NR3C1 | SLCO1A2 lnc-SLCO1A2-1 piR-45012-104 piR-41525-125 IAPP | |
| GH12J021413 | Enhancer | 0.8 | Ensembl | 0.4 | +5.7 | 5693 | 0.2 | LEF1 JUND PKNOX1 DPF2 HDAC1 SOX6 TCF12 EP300 NFE2 HDAC2 | SLCO1A2 piR-45012-104 lnc-SLCO1A2-1 piR-41525-125 IAPP |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLCO1A2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLCO1A2
- Top Transcription factor binding sites by QIAGEN in the SLCO1A2 gene promoter:
-
- HNF-4alpha1
- HNF-4alpha2
- NF-kappaB
- NF-kappaB1
- STAT3
Genomic Locations for SLCO1A2 Gene
Genomic Locations for SLCO1A2 Gene
- chr12:21,264,600-21,419,594
- (GRCh38/hg38)
- Size:
- 154,995 bases
- Orientation:
- Minus strand
- chr12:21,417,534-21,572,528
- (GRCh37/hg19)
- Size:
- 154,995 bases
- Orientation:
- Minus strand
Genomic View for SLCO1A2 Gene
Genes around SLCO1A2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p12.1 by HGNC
- 12p12.1 by Entrez Gene
- 12p12.1 by Ensembl
SLCO1A2 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 SLCO1A2 Gene
Proteins for SLCO1A2 Gene
-
Protein details for SLCO1A2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P46721-SO1A2_HUMAN
- Recommended name:
- Solute carrier organic anion transporter family member 1A2
- Protein Accession:
- P46721
- Q9UGP7
- Q9UL38
Protein attributes for SLCO1A2 Gene
- Size:
- 670 amino acids
- Molecular mass:
- 74145 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for SLCO1A2 Gene
Other Protein References for SLCO1A2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences SLCO1A2 / OATP Antibody
- G Biosciences Immunotag™ SLCO1A2 Antibody and Immunotag™ OATP1 Polyclonal Antibody
- Novus Biologicals Antibodies for SLCO1A2
- Invitrogen Antibodies for SLCO1A2 (AFLGC-SLCO1A2)
-
Biorbyt antibodies for SLCO1A2
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLCO1A2
Protein Products
-
OriGene Purified Proteins for SLCO1A2
- Search Origene for MassSpec and Protein Over-expression Lysates for SLCO1A2
- Origene Custom Protein Services for SLCO1A2
No data available for DME Specific Peptides for SLCO1A2 Gene
Domains & Families for SLCO1A2 Gene
Gene Families for SLCO1A2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SLCO1A2 Gene
- InterPro:
- Blocks:
-
- Protease inhibitor, Kazal-type
- Organic anion transporter polypeptide (OATP), N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for SLCO1A2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ60593, highly similar to Solute carrier organic anion transporter family member 1A2 (B4DJE6_HUMAN)
- SLCO1A2 protein (Q8IV69_HUMAN)
- Solute carrier family 21 member 3 (SO1A2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P46721- Family:
-
- Belongs to the organo anion transporter (TC 2.A.60) family.
Function for SLCO1A2 Gene
Molecular function for SLCO1A2 Gene
- UniProtKB/Swiss-Prot Function:
- Mediates the Na(+)-independent transport of organic anions such as sulfobromophthalein (BSP) and conjugated (taurocholate) and unconjugated (cholate) bile acids (By similarity). Selectively inhibited by the grapefruit juice component naringin.
Phenotypes From GWAS Catalog for SLCO1A2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
| GO:0008514 | organic anion transmembrane transporter activity | TAS | 9007731 |
| GO:0015125 | bile acid transmembrane transporter activity | TAS | -- |
| GO:0015347 | sodium-independent organic anion transmembrane transporter activity | IBA | 21873635 |
Phenotypes for SLCO1A2 Gene
- MGI mutant phenotypes for SLCO1A2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SLCO1A2:
-
- Large nuclei
- no effect
- Decreased viability
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Decreased vaccinia virus (VACV) infection
- Inconclusive
- Decreased homologous recombination repair frequency
- Increased hepcidin::fluc mRNA expression
Animal Models for SLCO1A2 Gene
- MGI Knock Outs for SLCO1A2:
-
- Slco1a5 Slco1a5<tm1Lex>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLCO1A2 - Select products 50% OFF >
- * SLCO1A2 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 SLCO1A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLCO1A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLCO1A2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLCO1A2
- Browse OriGene Inhibitory RNA Products For SLCO1A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLCO1A2
Clone Products
- Applied Biological Materials (abm): Clones for SLCO1A2 - Select products 50% OFF >
- * SLCO1A2 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 SLCO1A2
- Addgene plasmids for SLCO1A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLCO1A2
Cell Line Products
-
Horizon Cell Lines for SLCO1A2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLCO1A2 Gene
Localization for SLCO1A2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLCO1A2 Gene
- Cell membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA,TAS | -- |
| GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for SLCO1A2 Gene
Pathways by source for SLCO1A2 Gene
8 Reactome pathways for SLCO1A2 Gene
1 KEGG pathway for SLCO1A2 Gene
1 Qiagen pathway for SLCO1A2 Gene
- Hepatic ABC Transporters
Interacting Proteins for SLCO1A2 Gene
GPS-Prot Interaction Network for SLCO1A2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0015711 | organic anion transport | TAS | 9007731 |
| GO:0015721 | bile acid and bile salt transport | TAS | -- |
| GO:0043252 | sodium-independent organic anion transport | TAS | -- |
| GO:0055085 | transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for SLCO1A2 Gene
Drugs & Compounds for SLCO1A2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Rifampicin | Approved | Pharma | Agonist, Inhibitor, Inhibition, Transporter, inhibitor, binder | Pregnane X receptor agonist; antibiotic | 456 | |
| Rocuronium | Approved | Pharma | Transporter, substrate | TGF-βR I kinase inhibitor | 431 | |
| Probenecid | Approved, Investigational | Pharma | Inhibitor, Inhibition, Activator, Transporter, inhibitor | 40 | ||
| Bumetanide | Approved | Pharma | Agonist, Inhibitor, Inhibition, Transporter, substrate | NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor | 26 | |
| cholic acid | Approved | Pharma | Agonist, Full agonist, Transporter, substrate, inhibitor, inducer | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid |
|
58814-71-4 |
|
|||
| 1,3,12-Trihydroxycholan-24-oic acid |
|
63266-91-1 |
|
|||
| 1,3,7,12-Tetrahydroxycholan-24-oic acid |
|
63266-89-7 |
|
|||
| 12a-Hydroxy-3-oxocholadienic acid |
|
13535-96-1 |
|
|||
| 12b-Hydroxy-5b-cholanoic acid |
|
15173-23-6 |
|
Transcripts for SLCO1A2 Gene
mRNA/cDNA for SLCO1A2 Gene
- 3 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000307378 7682 nts (view in UCSC)
- ENST00000413682 543 nts (view in UCSC)
- ENST00000416627 356 nts (view in UCSC)
- ENST00000421287 702 nts (view in UCSC)
- ENST00000421294 448 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLCO1A2 - Select products 50% OFF >
- * SLCO1A2 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 SLCO1A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLCO1A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLCO1A2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLCO1A2
- Browse OriGene Inhibitory RNA Products For SLCO1A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLCO1A2
Clone Products
- Applied Biological Materials (abm): Clones for SLCO1A2 - Select products 50% OFF >
- * SLCO1A2 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 SLCO1A2
- Addgene plasmids for SLCO1A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLCO1A2
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP4: | - |
Relevant External Links for SLCO1A2 Gene
- GeneLoc Exon Structure for
- SLCO1A2
Expression for SLCO1A2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
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
-
Eye (Sensory Organs)
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Epithelial Cells
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
mRNA differential expression in normal tissues according to GTEx for SLCO1A2 Gene
This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.9), Brain - Substantia nigra (x7.3), Brain - Hippocampus (x6.8), Brain - Amygdala (x6.3), Brain - Putamen (basal ganglia) (x5.0), and Brain - Hypothalamus (x4.6).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLCO1A2
SOURCE GeneReport for Unigene cluster for SLCO1A2 Gene:
Hs.46440Evidence on tissue expression from TISSUES for SLCO1A2 Gene
- Nervous system(4.6)
- Liver(4.6)
- Intestine(3)
- Kidney(2.4)
- Blood(2.4)
- Thyroid gland(2.4)
Primer Products
-
OriGene qPCR primer pairs for SLCO1A2
Gene Expression Assay Products
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLCO1A2 Gene
Orthologs for SLCO1A2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLCO1A2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLCO1A2 30 |
|
||
| OATPA 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | SLCO1A2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slco1a5 30 17 31 |
|
OneToMany | |
| Slco1a4 31 |
|
OneToMany | |||
| Slco1a1 31 |
|
OneToMany | |||
| Gm6614 31 |
|
OneToMany | |||
| Slco1a6 31 |
|
OneToMany | |||
| Gm5724 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Slco1a5 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SLCO1A2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLCO1A2 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68666 30 |
|
- Species where no ortholog for SLCO1A2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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)
- Platypus (Ornithorhynchus anatinus)
- 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
- Zebrafish (Danio rerio)
Evolution for SLCO1A2 Gene
- ENSEMBL:
- Gene Tree for SLCO1A2 (if available)
- TreeFam:
- Gene Tree for SLCO1A2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLCO1A2: view image
Paralogs for SLCO1A2 Gene
Paralogs for SLCO1A2 Gene
(13) SIMAP similar genes for SLCO1A2 Gene using alignment to 14 proteins:
- SO1A2_HUMAN
- B4DJE6_HUMAN
- C9IYW8_HUMAN
- C9JCA7_HUMAN
- C9JG34_HUMAN
- C9JGK7_HUMAN
- C9JHU9_HUMAN
- C9JSB7_HUMAN
- C9JTF6_HUMAN
- C9JUW6_HUMAN
- C9K059_HUMAN
- F5GXY6_HUMAN
- F5H060_HUMAN
- Q8IV69_HUMAN
Variants for SLCO1A2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLCO1A2 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 786223 | Benign: not provided | 21,306,942(-) | T/A | MISSENSE_VARIANT | |
| 788577 | Benign: not provided | 21,300,490(-) | G/A | SYNONYMOUS_VARIANT | |
| VAR_036409 | A colorectal cancer sample | p.Val220Ile | |||
| rs10841795 | - | p.Ile13Thr | |||
| rs11568557 | - | p.Thr668Ser |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1404n100 | CNV | loss | 25217958 |
| esv1146701 | CNV | insertion | 17803354 |
| esv2750499 | CNV | gain | 17666407 |
| esv3628799 | CNV | loss | 21293372 |
| esv3628806 | CNV | loss | 21293372 |
| nsv1040888 | CNV | loss | 25217958 |
| nsv1115426 | CNV | duplication | 24896259 |
| nsv469161 | CNV | loss | 19166990 |
| nsv469162 | CNV | loss | 19166990 |
| nsv470274 | CNV | loss | 18288195 |
| nsv475260 | CNV | novel sequence insertion | 20440878 |
| nsv515735 | CNV | gain+loss | 19592680 |
| nsv519603 | CNV | gain+loss | 19592680 |
| nsv557734 | CNV | loss | 21841781 |
| nsv557735 | CNV | loss | 21841781 |
| nsv557736 | CNV | loss | 21841781 |
| nsv557737 | CNV | loss | 21841781 |
| nsv557738 | CNV | loss | 21841781 |
| nsv557739 | CNV | loss | 21841781 |
| nsv557740 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.36;
70.86% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLCO1A2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLCO1A2 Gene
Disorders for SLCO1A2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| intrahepatic cholestasis of pregnancy |
|
|
| cholelithiasis |
|
|
| aneurysmal bone cysts |
|
|
| cholestasis |
|
|
| dubin-johnson syndrome |
|
|
Search SLCO1A2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SLCO1A2
- 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 SLCO1A2 Gene
Publications for SLCO1A2 Gene
- Polymorphisms in human organic anion-transporting polypeptide 1A2 (OATP1A2): implications for altered drug disposition and central nervous system drug entry. (PMID: 15632119) Lee W … Kim RB (The Journal of biological chemistry 2005) 3 4 23 41
- Molecular and functional characterization of an organic anion transporting polypeptide cloned from human liver. (PMID: 7557095) Kullak-Ublick GA … Meier PJ (Gastroenterology 1995) 3 4 26
- Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. (PMID: 21685912) Höglinger GU … Schellenberg GD (Nature genetics 2011) 3 41
- HIV protease inhibitors are substrates for OATP1A2, OATP1B1 and OATP1B3 and lopinavir plasma concentrations are influenced by SLCO1B1 polymorphisms. (PMID: 20051929) Hartkoorn RC … Owen A (Pharmacogenetics and genomics 2010) 3 23
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
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Products for SLCO1A2 Gene
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