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This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene... See more...
Aliases for SLCO1B3 Gene
Aliases for SLCO1B3 Gene
- Solute Carrier Organic Anion Transporter Family Member 1B3 2 3 4 5
- OATP1B3 2 3 4
- OATP8 2 3 4
- Solute Carrier Family 21 (Organic Anion Transporter), Member 8 2 3
- Liver-Specific Organic Anion Transporter 2 3 4
- Organic Anion-Transporting Polypeptide 8 3 4
- Organic Anion Transporter 8 3 4
- SLC21A8 3 4
- OATP-8 3 4
External Ids for SLCO1B3 Gene
- HGNC: 10961
- Entrez Gene: 28234
- Ensembl: ENSG00000111700
- OMIM: 605495
- UniProtKB: Q9NPD5
Previous HGNC Symbols for SLCO1B3 Gene
- SLC21A8
Previous GeneCards Identifiers for SLCO1B3 Gene
- GC12P020859
- GC12P020963
- GC12P020736
Summaries for SLCO1B3 Gene
-
This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]
GeneCards Summary for SLCO1B3 Gene
SLCO1B3 (Solute Carrier Organic Anion Transporter Family Member 1B3) is a Protein Coding gene. Diseases associated with SLCO1B3 include Hyperbilirubinemia, Rotor Type and Gilbert Syndrome. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Statin Pathway - Generalized, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include transporter activity and organic anion transmembrane transporter activity. An important paralog of this gene is SLCO1B3-SLCO1B7.
UniProtKB/Swiss-Prot Summary for SLCO1B3 Gene
-
Mediates the Na(+)-independent uptake of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP). Involved in the clearance of bile acids and organic anions from the liver.
Additional gene information for SLCO1B3 Gene
- HGNC(10961)
- Entrez Gene(28234)
- Ensembl(ENSG00000111700)
- OMIM(605495)
- UniProtKB(Q9NPD5)
- Open Targets Platform(ENSG00000111700)
- Monarch Initiative
- Search for SLCO1B3 at DataMed
- Search for SLCO1B3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLCO1B3 Gene
Genomics for SLCO1B3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLCO1B3 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12J020822 | Promoter/Enhancer | 1 | EPDnew FANTOM5 ENCODE | 622.4 | +11.8 | 11771 | 0.4 | SIN3A POLR2A | SLCO1B3 piR-36770-023 SLCO1B3-SLCO1B7 NONHSAG010647.2 ENSG00000256157 SLCO1B7 | |
| GH12J020810 | Promoter | 0.4 | EPDnew | 600.7 | 0.0 | -16 | 0.1 | TAF1 | NONHSAG010647.2 SLCO1B3 HSALNG0089740 SLCO1C1 | |
| GH12J020808 | Promoter | 0.3 | EPDnew | 600.7 | -3.2 | -3201 | 0.1 | SLCO1B3 HSALNG0089740 NONHSAG010647.2 SLCO1C1 | ||
| GH12J020807 | Promoter | 0.3 | EPDnew | 600.7 | -3.0 | -2965 | 0.1 | SLCO1B3 HSALNG0089740 NONHSAG010647.2 SLCO1C1 | ||
| GH12J020875 | Promoter | 0.3 | EPDnew | 600.2 | +64.7 | 64711 | 0.1 | SLCO1B3 piR-38005-006 SLCO1B3-SLCO1B7 lnc-SLCO1A2-5 NONHSAG010647.2 SLCO1B7 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLCO1B3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLCO1B3
- Top Transcription factor binding sites by QIAGEN in the SLCO1B3 gene promoter:
-
- aMEF-2
- ATF-2
- HNF-4alpha1
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- PPAR-gamma1
- PPAR-gamma2
- STAT5A
Genomic Locations for SLCO1B3 Gene
Genomic Locations for SLCO1B3 Gene
- chr12:20,810,702-20,916,911
- (GRCh38/hg38)
- Size:
- 106,210 bases
- Orientation:
- Plus strand
- chr12:20,963,636-21,243,040
- (GRCh37/hg19)
- Size:
- 279,405 bases
- Orientation:
- Plus strand
Genomic View for SLCO1B3 Gene
Genes around SLCO1B3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p12.2 by HGNC
- 12p12.2 by Entrez Gene
- 12p12.2 by Ensembl
SLCO1B3 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 SLCO1B3 Gene
Proteins for SLCO1B3 Gene
-
Protein details for SLCO1B3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NPD5-SO1B3_HUMAN
- Recommended name:
- Solute carrier organic anion transporter family member 1B3
- Protein Accession:
- Q9NPD5
- E7EMT8
- Q5JAR4
Protein attributes for SLCO1B3 Gene
- Size:
- 702 amino acids
- Molecular mass:
- 77403 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLCO1B3 Gene
Post-translational modifications for SLCO1B3 Gene
- N-glycosylated.
-
Glycosylation at Asn134, Asn145, Asn151, Asn445, Asn503, and Asn516
- NX_Q9NPD5 (NX_Q9NPD5-1)
- Modification sites at PhosphoSitePlus
Other Protein References for SLCO1B3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SLCO1B3
-
Abcam antibodies for SLCO1B3
- Invitrogen Antibodies for SLCO1B3 (AFLGC-SLCO1B3)
- Sino Biological Antibodies for SLCO1B3
Protein Products
-
OriGene Purified Proteins for SLCO1B3
- Search Origene for MassSpec and Protein Over-expression Lysates for SLCO1B3
- Origene Custom Protein Services for SLCO1B3
No data available for DME Specific Peptides for SLCO1B3 Gene
Domains & Families for SLCO1B3 Gene
Gene Families for SLCO1B3 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for SLCO1B3 Gene
- InterPro:
- Blocks:
-
- Protease inhibitor, Kazal-type
- Organic anion transporter polypeptide (OATP), N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for SLCO1B3 Gene
- GenScript: Design optimal peptide antigens:
-
- SLCO1B3 protein (Q0VGL9_HUMAN)
- SLCO1B3 protein (Q6NSD0_HUMAN)
- Organic anion transporting polypeptide 8 (Q7Z454_HUMAN)
- Solute carrier family 21 member 8 (SO1B3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NPD5- Family:
-
- Belongs to the organo anion transporter (TC 2.A.60) family.
Function for SLCO1B3 Gene
Molecular function for SLCO1B3 Gene
- UniProtKB/Swiss-Prot Function:
- Mediates the Na(+)-independent uptake of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP). Involved in the clearance of bile acids and organic anions from the liver.
Phenotypes From GWAS Catalog for SLCO1B3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
| GO:0008514 | organic anion transmembrane transporter activity | TAS | 10779507 |
| GO:0015125 | bile acid transmembrane transporter activity | TAS | -- |
| GO:0015347 | sodium-independent organic anion transmembrane transporter activity | IBA | 21873635 |
Phenotypes for SLCO1B3 Gene
- MGI mutant phenotypes for SLCO1B3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SLCO1B3:
Animal Models for SLCO1B3 Gene
- MGI Knock Outs for SLCO1B3:
-
- Slco1b2 Slco1b2<tm1Cdk>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLCO1B3 - Select products 50% OFF >
- * SLCO1B3 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 SLCO1B3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLCO1B3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLCO1B3
miRNA for SLCO1B3 Gene
- miRTarBase miRNAs that target SLCO1B3
-
- hsa-miR-6867-3p (MIRT531980)
- hsa-miR-188-3p (MIRT531981)
- hsa-miR-4685-3p (MIRT531982)
- hsa-miR-4287 (MIRT531983)
- hsa-miR-7113-3p (MIRT531984)
- hsa-miR-4469 (MIRT531985)
- hsa-miR-532-3p (MIRT531986)
- hsa-miR-4667-3p (MIRT531987)
- hsa-miR-1470 (MIRT531988)
- hsa-miR-4639-3p (MIRT531989)
- hsa-miR-4457 (MIRT531990)
- hsa-miR-3936 (MIRT531991)
- hsa-miR-1277-5p (MIRT614555)
- hsa-miR-4789-5p (MIRT614556)
- hsa-miR-3941 (MIRT614557)
- hsa-miR-5011-5p (MIRT614558)
- hsa-miR-4789-3p (MIRT614559)
- hsa-miR-603 (MIRT614560)
- hsa-miR-362-3p (MIRT614561)
- hsa-miR-329-3p (MIRT614562)
- hsa-miR-8485 (MIRT614563)
- hsa-miR-190a-3p (MIRT707564)
- hsa-miR-340-5p (MIRT707565)
- hsa-miR-5590-3p (MIRT707566)
- hsa-miR-142-5p (MIRT707567)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLCO1B3
- Browse OriGene Inhibitory RNA Products For SLCO1B3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLCO1B3
Clone Products
- Applied Biological Materials (abm): Clones for SLCO1B3 - Select products 50% OFF >
- * SLCO1B3 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 SLCO1B3
- Addgene plasmids for SLCO1B3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLCO1B3
Cell Line Products
-
Horizon Cell Lines for SLCO1B3
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLCO1B3 Gene
Localization for SLCO1B3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLCO1B3 Gene
- Basolateral cell membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0016323 | basolateral plasma membrane | IEA | -- |
Pathways & Interactions for SLCO1B3 Gene
Pathways by source for SLCO1B3 Gene
8 Reactome pathways for SLCO1B3 Gene
1 KEGG pathway for SLCO1B3 Gene
Interacting Proteins for SLCO1B3 Gene
GPS-Prot Interaction Network for SLCO1B3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0015711 | organic anion transport | TAS | 10779507 |
| 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 SLCO1B3 Gene
Drugs & Compounds for SLCO1B3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Rifampicin | Approved | Pharma | Agonist, Inhibitor, Inhibition, Transporter, substrate, inhibitor, binder | Pregnane X receptor agonist; antibiotic | 456 | |
| Cyclosporin A | Approved, Investigational, Vet_approved | Pharma | Antagonist, Inhibitor, Inhibition, Transporter, inhibitor | Immunosuppressive agent, Calcineurin inhibitor | 0 | |
| Gemfibrozil | Approved | Pharma | Agonist, Inhibitor, Inhibition, Target, inhibitor, activator | 30 | ||
| Docetaxel | Approved, Investigational | Pharma | Transporter, substrate | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2330 | |
| Mycophenolate mofetil | Approved, Investigational | Pharma | Transporter, substrate | IMPDH inhibitor | 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 |
|
(1) ApexBio Compounds for SLCO1B3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Probenecid | 57-66-9 |
Transcripts for SLCO1B3 Gene
mRNA/cDNA for SLCO1B3 Gene
- 2 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261196 2840 nts (view in UCSC)
- ENST00000381545 3013 nts (view in UCSC)
- ENST00000540853 1002 nts (view in UCSC)
- ENST00000544370 1771 nts (view in UCSC)
- ENST00000545880 339 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLCO1B3 - Select products 50% OFF >
- * SLCO1B3 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 SLCO1B3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLCO1B3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLCO1B3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLCO1B3
- Browse OriGene Inhibitory RNA Products For SLCO1B3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLCO1B3
Clone Products
- Applied Biological Materials (abm): Clones for SLCO1B3 - Select products 50% OFF >
- * SLCO1B3 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 SLCO1B3
- Addgene plasmids for SLCO1B3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLCO1B3
Relevant External Links for SLCO1B3 Gene
- GeneLoc Exon Structure for
- SLCO1B3
Expression for SLCO1B3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Liver (Hepatobiliary System)
- Perivenous Hepatocytes Liver Lobule
- Hepatocytes Liver Lobule
mRNA differential expression in normal tissues according to GTEx for SLCO1B3 Gene
This gene is overexpressed in Liver (x47.0).
This gene is overexpressed in Gallbladder (33.5) and Liver (31.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLCO1B3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLCO1B3
SOURCE GeneReport for Unigene cluster for SLCO1B3 Gene:
Hs.504966mRNA Expression by UniProt/SwissProt for SLCO1B3 Gene:
Q9NPD5-SO1B3_HUMAN
Tissue specificity:
Highly expressed in liver, in particular at the basolateral membrane of hepatocytes near the central vein. Not detected in other tissues. Highly expressed in some cancer cell lines derived from colon, pancreas, liver and gall bladder.
Evidence on tissue expression from TISSUES for SLCO1B3 Gene
- Liver(4.8)
- Blood(2.4)
- Kidney(2.3)
- Intestine(2.3)
- Urine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLCO1B3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- skeleton
Regions:
Head and neck:
- eye
- head
- mouth
Abdomen:
- biliary tract
- liver
General:
- skin
Primer Products
-
OriGene qPCR primer pairs for SLCO1B3
Gene Expression Assay Products
Orthologs for SLCO1B3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Dog (Canis familiaris) |
Mammalia | SLCO1B3 30 |
|
||
| OATPC 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | SLCO1B3 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Slco1b2 30 17 31 |
|
OneToMany | |
| Rat (Rattus norvegicus) |
Mammalia | Slco1b2 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
- Species where no ortholog for SLCO1B3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Chimpanzee (Pan troglodytes)
- 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)
- 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 SLCO1B3 Gene
- ENSEMBL:
- Gene Tree for SLCO1B3 (if available)
- TreeFam:
- Gene Tree for SLCO1B3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLCO1B3: view image
Paralogs for SLCO1B3 Gene
Paralogs for SLCO1B3 Gene
(14) SIMAP similar genes for SLCO1B3 Gene using alignment to 5 proteins:
- SO1B3_HUMAN
- F5H8K0_HUMAN
- H0YGG9_HUMAN
- Q0VGL9_HUMAN
- Q6NSD0_HUMAN
Variants for SLCO1B3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLCO1B3 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 712105 | Conflicting Interpretations: Rotor syndrome; not provided | 20,855,146(+) | T/TAATTG | FRAMESHIFT_VARIANT | |
| 719501 | Benign: Rotor syndrome; not provided | 20,815,807(+) | C/T | SYNONYMOUS_VARIANT | |
| 722875 | Conflicting Interpretations: Rotor syndrome; not specified; not provided | 20,883,599(+) | T/C | MISSENSE_VARIANT | |
| 724243 | Conflicting Interpretations: Rotor syndrome; not provided | 20,877,875(+) | C/T | SYNONYMOUS_VARIANT | |
| 727114 | Conflicting Interpretations: Rotor syndrome; not provided | 20,877,902(+) | C/T | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
71.4% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLCO1B3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLCO1B3 Gene
Disorders for SLCO1B3 Gene
(12) MalaCards diseases for SLCO1B3 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperbilirubinemia, rotor type |
|
|
| gilbert syndrome |
|
|
| progressive familial intrahepatic cholestasis |
|
|
| intrahepatic cholestasis of pregnancy |
|
|
| hepatocellular adenoma |
|
|
Search SLCO1B3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SO1B3_HUMAN- Hyperbilirubinemia, Rotor type (HBLRR) [MIM:237450]: An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. {ECO:0000269 PubMed:22232210}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLCO1B3
- 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 Genatlas for SLCO1B3 Gene
Publications for SLCO1B3 Gene
- LST-2, a human liver-specific organic anion transporter, determines methotrexate sensitivity in gastrointestinal cancers. (PMID: 11375950) Abe T … Matsuno S (Gastroenterology 2001) 3 4 23 26
- Influence of solute carriers on the pharmacokinetics of CYP3A4 probes. (PMID: 18509328) Franke RM … Sparreboom A (Clinical pharmacology and therapeutics 2008) 3 23 41
- Influence of SLCO1B3 gene polymorphism on the pharmacokinetics of digoxin in terminal renal failure. (PMID: 19122334) Tsujimoto M … Sawada Y (Drug metabolism and pharmacokinetics 2008) 3 23 41
- Variants in the SLCO1B3 gene: interethnic distribution and association with paclitaxel pharmacokinetics. (PMID: 17186002) Smith NF … Sparreboom A (Clinical pharmacology and therapeutics 2007) 3 23 41
- Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. (PMID: 22232210) van de Steeg E … Schinkel AH (The Journal of clinical investigation 2012) 3 4
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