SLCO1B3 Gene (Protein Coding)

Solute Carrier Organic Anion Transporter Family Member 1B3

GC12P020810
GIFtS:
45
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
  • LST-2 3 4
  • Solute Carrier Organic Anion Transporter Family, Member 1B3 2
  • Liver-Specific Organic Anion Transporter 3TM13 3
  • Solute Carrier Family 21 Member 8 4
  • Organic Anion Transporter LST-3c 3
  • LST-3TM13 3
  • SLCO1B3 5
  • HBLRR 3
  • LST3 3
  • LST2 4

External Ids for SLCO1B3 Gene

Previous HGNC Symbols for SLCO1B3 Gene

  • SLC21A8

Previous GeneCards Identifiers for SLCO1B3 Gene

  • GC12P020859
  • GC12P020963
  • GC12P020736

Summaries for SLCO1B3 Gene

Entrez Gene Summary 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 Progressive Familial Intrahepatic Cholestasis. 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 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.

Gene Wiki entry for SLCO1B3 Gene

Additional gene information for SLCO1B3 Gene

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

Download GeneHancer 2017 data
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 272.4 +11.8 11771 0.4 POLR2A SIN3A SLCO1B3 HSALNG0089740 piR-36770-023 SLCO1B3-SLCO1B7 NONHSAG010647.2 ENSG00000256157 SLCO1B7
GH12J020810 Promoter 0.4 EPDnew 250.7 0.0 -16 0.1 TAF1 NONHSAG010647.2 SLCO1B3 HSALNG0089740 piR-39098-050 SLCO1C1
GH12J020807 Promoter 0.3 EPDnew 250.7 -3.0 -2965 0.1 SLCO1B3 NONHSAG010647.2 HSALNG0089740 piR-39098-050 SLCO1C1
GH12J020808 Promoter 0.3 EPDnew 250.7 -3.2 -3201 0.1 SLCO1B3 NONHSAG010647.2 HSALNG0089740 piR-39098-050 SLCO1C1
GH12J020875 Promoter 0.3 EPDnew 250.2 +64.7 64711 0.1 SLCO1B3 piR-38005-006 SLCO1B3-SLCO1B7 lnc-SLCO1A2-5 NONHSAG010647.2 SLCO1B7 HSALNG0089747
- 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

Latest Assembly
chr12:20,810,702-20,916,911
(GRCh38/hg38)
Size:
106,210 bases
Orientation:
Plus strand

Previous Assembly
chr12:20,963,639-21,069,845
(GRCh37/hg19 by Entrez Gene)
Size:
106,207 bases
Orientation:
Plus strand

chr12:20,963,636-21,243,040
(GRCh37/hg19 by Ensembl)
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:
SLCO1B3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLCO1B3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLCO1B3 Gene

Proteins for SLCO1B3 Gene

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  • 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
    Secondary Accessions:
    • E7EMT8
    • Q5JAR4

    Protein attributes for SLCO1B3 Gene

    Size:
    702 amino acids
    Molecular mass:
    77403 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLCO1B3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLCO1B3 Gene

Protein Expression for SLCO1B3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLCO1B3 Gene

  • N-glycosylated.
  • Glycosylation at Asn134, Asn145, Asn151, Asn445, Asn503, and Asn516
  • Modification sites at PhosphoSitePlus

Other Protein References for SLCO1B3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

UniProtKB/Swiss-Prot:

SO1B3_HUMAN :
  • Belongs to the organo anion transporter (TC 2.A.60) family.
Family:
  • Belongs to the organo anion transporter (TC 2.A.60) family.
genes like me logo Genes that share domains with SLCO1B3: view

Function for SLCO1B3 Gene

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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

Gene Ontology (GO) - Molecular Function 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
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLCO1B3: view
genes like me logo Genes that share phenotypes with SLCO1B3: view

Human Phenotype Ontology for SLCO1B3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLCO1B3 Gene

MGI Knock Outs for SLCO1B3:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLCO1B3 gene
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLCO1B3 Gene

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 --
genes like me logo Genes that share ontologies with SLCO1B3: view

Pathways & Interactions for SLCO1B3 Gene

genes like me logo Genes that share pathways with SLCO1B3: view

Interacting Proteins for SLCO1B3 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000261196 Q9NPD5-SO1B3_HUMAN for SLCO1B3 Gene via STRING IID

GPS-Prot Interaction Network for SLCO1B3

Gene Ontology (GO) - Biological Process for SLCO1B3 Gene

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 --
genes like me logo Genes that share ontologies with SLCO1B3: view

No data available for SIGNOR curated interactions for SLCO1B3 Gene

Drugs & Compounds for SLCO1B3 Gene

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(138) Drugs for SLCO1B3 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rifampicin Approved Pharma Inhibitor, Inhibition, Transporter, substrate, binder Pregnane X receptor agonist; antibiotic 490
Cyclosporin A Approved, Investigational, Vet_approved Pharma Inhibitor, Inhibition, Transporter Immunosuppressive agent, Calcineurin inhibitor 0
Gemfibrozil Approved Pharma Inhibitor, Inhibition, Target, activator 31
Docetaxel Approved, Investigational Pharma Transporter, substrate Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2403
Mycophenolate mofetil Approved, Investigational Pharma Transporter, substrate IMPDH inhibitor 0

(81) Additional Compounds for SLCO1B3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • (3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-glucopyranosiduronate
  • Chenodeoxycholic acid 3-glucuronide
  • Chenodeoxycholic acid-3-b-D-glucuronide
  • Chenodeoxycholic acid-3-beta-delta-glucuronide
 58814-71-4
1,3,12-Trihydroxycholan-24-oic acid
  • 1,3,12-Trihydroxycholan-24-Oate
  • 1,3,12-Trihydroxy-5b-cholanoate
  • 1,3,12-Trihydroxy-5b-cholanoic acid
  • 1,3,12-Trihydroxy-cholan-24-Oate
  • 1,3,12-Trihydroxy-cholan-24-Oic acid
 63266-91-1
1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholan-24-Oate
  • 1,3,7,12-Tetrahydroxy-cholan-24-Oate
  • 1,3,7,12-Tetrahydroxy-cholan-24-Oic acid
  • 1,3,7,12-Tetrahydroxycholanoate
  • 1,3,7,12-Tetrahydroxycholanoic acid
 63266-89-7
12a-Hydroxy-3-oxocholadienic acid
  • 12a-Hydroxy-3-oxocholadienate
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-Oate
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-Oic acid
  • 12a-Hydroxy-3-oxo-chola-4,6-dienate
  • 12a-Hydroxy-3-oxo-chola-4,6-dienic acid
 13535-96-1
12b-Hydroxy-5b-cholanoic acid
  • 12b-Hydroxy-5b-cholanoate
  • 12-Hydroxy-(5b,12b)-cholan-24-Oate
  • 12-Hydroxy-(5b,12b)-cholan-24-Oic acid
  • 12b-Hydroxy-5b-cholan-24-Oate
  • 12b-Hydroxy-5b-cholan-24-Oic acid
 15173-23-6

(1) ApexBio Compounds for SLCO1B3 Gene

Compound Action Cas Number
Probenecid 57-66-9
genes like me logo Genes that share compounds with SLCO1B3: view

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Transcripts for SLCO1B3 Gene

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLCO1B3

Alternative Splicing Database (ASD) splice patterns (SP) for SLCO1B3 Gene

No ASD Table

Relevant External Links for SLCO1B3 Gene

GeneLoc Exon Structure for
SLCO1B3

Expression for SLCO1B3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLCO1B3 Gene

mRNA expression in normal human tissues for SLCO1B3 Gene
mRNA expression by BioGPS for SLCO1B3 GenemRNA expression by GTEx for SLCO1B3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLCO1B3 Gene

This gene is overexpressed in Liver (x47.0).

Protein differential expression in normal tissues from HIPED for SLCO1B3 Gene

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



Protein tissue co-expression partners 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.504966

mRNA 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(2.1)
  • Kidney(2.1)
  • Intestine(2.1)

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
genes like me logo Genes that share expression patterns with SLCO1B3: view

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Orthologs for SLCO1B3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLCO1B3 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia SLCO1B3 30
  • 81.88 (n)
OATPC 31
  • 71 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia SLCO1B3 30
  • 80.9 (n)
-- 31
  • 70 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Slco1b2 30 17 31
  • 75.88 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Slco1b2 30
  • 75.46 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 61 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 51 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves -- 31
  • 39 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 36 (a)
 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
genes like me logo Genes that share paralogs with SLCO1B3: view

Variants for SLCO1B3 Gene

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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
769234 Benign: not provided 20,901,435(+) G/.
NM_019844.4(SLCO1B3):c.1833= (p.Gly611=) 		NO_SEQUENCE_ALTERATION
880547 Uncertain Significance: Rotor syndrome 20,916,888(+) C/T
NM_019844.4(SLCO1B3):c.*641C>T 		THREE_PRIME_UTR_VARIANT,INTRON
881392 Uncertain Significance: Rotor syndrome 20,861,116(+) A/G
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) 		SYNONYMOUS
881393 Uncertain Significance: Rotor syndrome 20,862,471(+) C/T
NM_019844.4(SLCO1B3):c.541C>T (p.Arg181Cys) 		MISSENSE
881394 Uncertain Significance: Rotor syndrome 20,862,487(+) C/A
NM_019844.4(SLCO1B3):c.557C>A (p.Thr186Asn) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLCO1B3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLCO1B3 Gene

Variant ID Type Subtype PubMed ID
dgv1403n100 CNV loss 25217958
dgv2399n54 CNV loss 21841781
dgv2400n54 CNV loss 21841781
dgv2401n54 CNV loss 21841781
dgv2402n54 CNV loss 21841781
dgv2403n54 CNV loss 21841781
dgv259e214 CNV loss 21293372
dgv276n67 CNV gain 20364138
dgv465e212 CNV loss 25503493
dgv466e212 CNV loss 25503493
dgv4e24 CNV loss 17666407
esv24973 CNV gain 19812545
esv2663290 CNV deletion 23128226
esv2666827 CNV deletion 23128226
esv2672824 CNV deletion 23128226
esv2750761 CNV loss 17666407
esv2759882 CNV gain+loss 17122850
esv3306807 CNV mobile element insertion 20981092
esv3323113 CNV insertion 20981092
esv3429101 CNV insertion 20981092
esv3580176 CNV loss 25503493
esv3628793 CNV loss 21293372
esv3628795 CNV loss 21293372
esv3628797 CNV loss 21293372
esv3628798 CNV loss 21293372
esv3628799 CNV loss 21293372
nsv1041345 CNV loss 25217958
nsv1051454 CNV loss 25217958
nsv1054997 CNV gain 25217958
nsv1075845 CNV duplication 25765185
nsv1113466 CNV deletion 24896259
nsv1113467 CNV deletion 24896259
nsv1132356 CNV duplication 24896259
nsv1134207 CNV deletion 24896259
nsv1138113 CNV deletion 24896259
nsv1142136 CNV tandem duplication 24896259
nsv1144611 CNV deletion 24896259
nsv1146315 CNV duplication 26484159
nsv1148189 CNV insertion 26484159
nsv1159989 CNV duplication 26073780
nsv428275 CNV gain 18775914
nsv438195 CNV loss 16468122
nsv509459 CNV insertion 20534489
nsv515735 CNV gain+loss 19592680
nsv557709 CNV loss 21841781
nsv636 CNV insertion 18451855
nsv8927 CNV gain 18304495
nsv8928 CNV loss 18304495

Variation tolerance for SLCO1B3 Gene

Residual Variation Intolerance Score: 71.4% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLCO1B3 Gene

Human Gene Mutation Database (HGMD)
SLCO1B3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLCO1B3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLCO1B3 Gene

Disorders for SLCO1B3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SLCO1B3 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
hyperbilirubinemia, rotor type
  • hblrr
progressive familial intrahepatic cholestasis
  • pfic; byler disease
intrahepatic cholestasis of pregnancy
  • gravidic intrahepatic cholestasis
bronchiectasis 3
hepatocellular adenoma
  • adenoma hepatocellular
- elite association - COSMIC cancer census association via MalaCards

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 variants affecting the gene represented in this entry.

Additional Disease Information for SLCO1B3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for SLCO1B3 Gene

Publications for SLCO1B3 Gene

  1. 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
  2. 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 74
  3. 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
  4. Influence of solute carriers on the pharmacokinetics of CYP3A4 probes. (PMID: 18509328) Franke RM … Sparreboom A (Clinical pharmacology and therapeutics 2008) 3 23 41
  5. 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

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