SLCO1B1

solute carrier organic anion transporter family member 1B1, the group of Solute carrier organic anion transporter family

Basic information

Region (hg38): 12:21131194-21239796

Previous symbols: [ "SLC21A6" ]

Links

ENSG00000134538

∙ NCBI:10599 ∙ OMIM:604843 ∙ HGNC:10959 ∙ Uniprot:Q9Y6L6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Rotor syndrome (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Statin-induced myopathy	AD	Pharmacogenomic	For Statin-induced myopathy, the presence of variants may indicate an increased risk of adverse events (eg, with statins), or may additionally be associated with indications for dosing/medication selection (eg, with rifampin)	Gastrointestinal	766621; 18781850; 18823304; 18854776; 19238654; 18650507; 19901119; 21178985; 21142914; 19952871; 21243006; 21709081; 21386754; 22462750; 22232210; 22668755; 22749334; 22850760
For Hyperbilirubinemia, Rotor type, digenic, inheritance involves SLCO1B1 and SLCO1B3

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLCO1B1 gene.

Rotor syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLCO1B1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			4 clinvar	10 clinvar	4 clinvar	18
missense			66 clinvar	8 clinvar	3 clinvar	77
nonsense	1 clinvar		3 clinvar			4
start loss						0
frameshift			3 clinvar			3
inframe indel						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
splice region			1			1
non coding			11 clinvar	8 clinvar	38 clinvar	57
Total	1	0	92	26	45

Highest pathogenic variant AF is 0.0000788

Variants in SLCO1B1

This is a list of pathogenic ClinVar variants found in the SLCO1B1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
12-21131237-G-A	Rotor syndrome	Uncertain significance (Apr 28, 2017)	632185
12-21131246-A-G	Rotor syndrome	Uncertain significance (Jan 12, 2018)	881964
12-21140398-A-AAGAGTCAGTTGAAGTAAAAAGTTAACTCATTTTACTAGTCTTTAAAGTAGGACTTTAATGACTCTCAAAATAACAATTTCTCTCATACATTGACTCCAAAACTTTAGTTGTTGAATTTATTCTGCAGATATGGCCACATAAAACCAAAATGGCATATGATATATTAAGAACATCTTTAATATGAAATGATTAGATACAACCTAAAAGCTGATGAATATAGAACCAGTTGCATATATTATGGACAACTTAATACCCTGCTACCATAAGAAAAATGAGAAAGACTTATTAAGATTAAGTATATAGAGAAGATAAAAAGGTAGAGAATGATGTTTAAGGTATGCTACCATTTGCATTGAAAAGGAAAATATTATGTACTTAATGAAAAATCCATATTATATTTCTGGATAATGGGACAAGAGTTAGAGGAAGAATCTTTGTTTTATTTTTTTAATTTGCATTTTCAACTATATGCATTTTCTCTTGGAAAAGAAATGAACAAAATCAAAATAAAGTAACATCATGATGGTGGTAAGGTCAAGCAATACCAGAGTTGCTCTGAGAAGTACTTGGAGTACACTTTGCTCTTTTTAACAAATCCAAATTCTGTTTGCTTTTTGAGCCTGATTCCAGTGGTGTCTCCTTTATAAAACTGAGGCCATTCTAATTTAATTCTTTATATTATTTTTGTATCTGTTTTGAATATCTACTCTGTGCAAGGGGCTAATAGGCACATTTTAAAACTAGAAGGATAAAGAAAACATATATTTGCTTTTATAAATTTTACAATATAGGTGTGTAGAAAAGATAATAATTTAAATTTCTATAATTTAAAATGTTCATGTAATCTGGTGTGTGATTCTATATTACTTACTTGTTTCAAATTTCTCTCCACAAATTTATTTTTCTATTAAATTGTAATCTCCTTAGGCTAGAATTTGTGTCTGTCTTTCCTACTTTTGTTTCCAGCATTGACCTAGCAGAGTGGTAACGACATAGTAGACCCTGAGTGAATGTTAGTGAATGGTTGATTGATTGATGATGATCTTGTGGCTTTTCTTATTTCTAAATTATATATTGTAAAAATAAAATAAACTATACTTTTTCTTCCTTAATAGGTGATTGTTTCAAACTGAGCATCAACAACAAAAACATTTGTATGATATCTATATTTCAATCATGGACCAAAATCAACATTTGAATAAAACAGCAGAGGCACAACCTTCAGAGAATAAGAAAACAAGATACTGCAATGGATTGAAGGTAGAATAAGTTTTATGTTTTTGAGCTAAAATAAGTAAATAGGGAACTTTAATGTATAGAAAAGCAAGTTGTTAAAAAGAACATTATGTTTCAAATTATAATTTTCAATTGAAGCATATATTGAAATATTAACATAATGATTCATACCTTGATTTAAACCAGTCTTTTAATCTGATTAAGTATTTCTTTGGCGAAATTTTTGATGCTTAATAGTTTATCAATGTAGAAAATTTAGAAATATTTTGATAGCTTCTCTTTGGTTTTGGATTGATCACGACATATTTAGGAATGTGATTAAAATAAAAAATGCATAATGAATAATATTTTAAAATTCTTAGAATTGACTTATAAACTTAGAATATTAATGTCTTGAGACTCACTTTGTGATACTGACTTATTTAAAAATTCTTTTAAAAAAAAAAACAAAAAACAGGATTTAAAAAAGTTCTGATAAGTAATTTAGGCTCATGGAACGGAGGTCTATGATAGTCAAAAACTTGGCCAAAAGACCTGTTTGACGATTTAGAAAAGCCATTTAATGTTTTCATTTGCCAGCTGGTAAAAGTAATAATTCTGCTTTTTGCTTTTGGCACAAACTGTATTAAATGATACAGTTGAGGTATTAAGTGATGCTGGCATTTTTATAAACAGGAATGAGTACTCCTAAGCACAATGCTAAATGAGAAGCCAAGACTCAGAAAAGTTAAGAAATTTTCCTGAAGTCATCTACATTGTGAATTGAAAACCCTGGAACCCAAGACAAAGCCTTTAAATCCCCATATGGAAGTCTTGAGGAAATCAAGAAATAAGGGTCACCTTTTATCAATGTTTTAACTTTTTTATTTAGTCAAATTTGTAGTCTTATACAGCTGAATAAAGGCCACCAAGATTGGAGTCAATTACAATAATGTTATAAAAGGTTCCTTTTAGCTCCTTCCAGGGAACATAAAATTTGTTTGTTTTCTGAGATTACTGATAAAGCCTTCTCTGATGAAATATTTGAGTAACATTTAGGCCAAGTGGCAGTCATAAGGAAAAAGTATTGGTTAATGCAAGTGAATTATGTTCTATATTCTAAGGATAATATAATGTACTGAATTGTTTTTATTTTTAAATACTGAGTGTTACAGTAATTTCACTGACATGTGCATAGCAAAATGGCAGCAAACTGCCTGAAGCAATAAAATTTCCAGAGTGATCCCTTATAGCATATCTGGAGAAGCTGGGAGTTAGGGAATTAGCAGTGTGTGGAAAGGACATTAACTGCAGCCCAATAAAGAAGACTAGAGCTAGAGGAAGATACTGGGATAAGACTGGCATCCCTAATGCTGGTATTTCAGAAACATCGCTAAATTGGTTAATCATGTCTACAAGTGATATTTAAAATAATATTTTCACTCACTTAAATTGTTAACATTGATATGTTGTTGATAAAGAATATTAAACTCAACAATCATTTTACAATAATTCTGTAAAGACTTGCGTGCCTGTAGTTGAGGTTTGTTGCATTTCTGAGCTTACTTTTTATTCATGAGAAATGAAAACATAATGGGAGAAAATTTTTTAAATAAAGGGTATTTTAATTTTTTATGAAGTTTGGGACTTCAAAGTATTAACAAAAGTTGCTGAAAATATATTGACTTTTACTTTCATTAAATTACATTTTATCATCTAATTTCTTAATTTTCTGTATTTGAAATATTATGATTTAGAGATATCTCTGTAGATAGAAAGATAATGAAAACAATAGTAAAACAAATGTAATTCAGGAGCATAAAAAAAGATGAGAGAAACCTTAATAATAGTAGCTAACATTTATCAAGCATTTACTATATGCCAGACATTGATTTAGTGTTTTACTTTTGCTAACAGATTTTTTCCTTACCATAATTCTATCAACTGGATGGTATTATCTCCCCTTTTCAGATGAAAAAACCTAGATATAGACAGGGCAAATGTCTTCTCCTAGGTCTCAAAGTTGGTAATTGGTACACTGAAGGTCTGAACTCAGGCAATCTGATTCCAAATCCTATGCTCTCAACTGTATTCCATATTGCTAAAATAAATGTGGATTTTTGTAATATTAGTACCCTCAAGATGTTATGGCAAGCAGGCTTTTATAAGTGGTGTCTTTAATAACTTTCCTCATTCCATACTTCTAAAAAATTATCTTAAGGTTAAATTATTGAGTGTCAAGCAACTGTGGATTCTAACACTTGCTAACATGCATGCACACACCCAAATATACATGTTGTTACTGACTTACATATACAGACACAGCAGGTGGCAATATATAAGTGCAAATTGATAATATATCCGTGGAAATACAAACAAAACTTTGAGAAATCAAATACTTGAATTCTTTTCTACCCCTTCTCCTCAATTTTTGTACTGAACTAACTACATTACATAGAACCTGCTAGTATATGTTTCATCATTACACTTGTCATTTCTTCTCTTCAAATTTAAACCCAACAAGATACAGGGGAAGATTTAAATGCAATCCAAAGAAAACAGGAAAACAATTCAAGAGTTTAAAGATGACATAGTCATTTTAAGAAAGAACCAAAATTAACTTCTGAAATTAAATATTTTACTACAGGAATTTCATAATACAATTATAGTAATTAACAACAAAATAGACCAAGCTTAAGAAAGAATCTCAGAGTTTGAAGATTACCCCTTTGAATCAACACAAGCAGACAAAATTAAAGGAAAAATATTAATGAAAAAAACCTCTGAGAAATATGGGATTATGTAAAGAGACCAAGCCTGTGACTCATTGGCATTCCTGAAAGAGGAGAAAGAGTAAGCAACTTGGAAAATGTCTTTGAGGATAAAGTCCATGAAAAATTTCCCAGTCTTGCTAGAGAGGTGGATATGCAAGTTCAAAAAATTCAAAGAATCCCTTCAAGATACTATACAAGATGGTCATCCACAAGACACATAATCATCAGATTCTCCAAGGTAAACAAGAAAGAAAAAAACCTTAAAGGCAGCTAGAGAGAAGGGGCAGGTCACTTACAAAAGGAGCCCCATCAGTCTAACAATAGATCTTTCAGCAGAAAGCTTACAAGCTAGAAGAGATTGGGGACCTATTTTCACCATCCTTAAAGAAAAGAAATTGCAACTAAGAATTTTATATTCTGCCAAACTAAGCTTCATAAGTAAAGAAAAAATATTATTTTCGGTCAAGCAAATGCTAACAGAATTTGTTACCATTAGACCTGCCTTACCAGAGATGCTTAAGGGAGTCCTAAACATGGAAATGAAAGAATGATACCTGTCACCACAAAAATAGACTTAACTACAGAGCCCACAGACATTATAAAGCAATTATGCAATCAAGCCAACATAATAACCAGCTAACAACACTATGACAGAATCAAATCCTCACATATCAGTATTAATCTTGAATGTAAATGGGTTAAATGCCTACACTTAAAAGGCATAGAATAGCAAGTTGGATAAAGAAGCAAGACCCAACCGTTTTGTTGTCTTCATGACTCATGTATCATGACATCCATAAGATAGAAAATGAATAAATTGAAATAATATTTATCTCAGAGTTGTCAGGATATTTATAAGGTGCTTAGCACAGTGTTACATAGAAACTCAATAAATTGGAAAGTTCCAACATAGTAGCATTATAGTTGCTGCACTTTTTTTGAGACAGGGCCTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAAACTCCACCTCCCAGGCTCAAGTGATTCTCCCACCTCCTGAGTAGCTGGAACTACAGGCACATGCCACTTCACCCAGCATTTTTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTAGTAGAGATGAGGTCTTACCTTGTTGCCAGGCTGGTCTTAAATTCCTAGGCTCAAGCAATCAGCCCGCCTTGGCCTCCTAAAGTGCTGGAATTACAGGTATGAGCCATCACATCTGGAAGCTGTTTCTTTTTAAAGTGACTACATTAATTTACTTGATCACGAGTAATACATAAATGAAAATTTGAGAATACATTCACTCCAATATTTGGAATTATGTGACTTCTAGATTTTTGCAATTTAAGTAGGCATAAAATGGTACTTTGTTTT	Gestational diabetes mellitus uncontrolled	not provided (-)	157243
12-21141292-AATTT-A		Benign (Nov 12, 2018)	1225618
12-21141359-T-G		Benign (Nov 12, 2018)	1247535
12-21141572-A-C	Rotor syndrome	Uncertain significance (Jan 12, 2018)	881965
12-21141572-A-G	Rotor syndrome	Likely benign (Mar 25, 2023)	2920923
12-21141605-G-T	Cardiovascular phenotype	Uncertain significance (Mar 31, 2023)	2532148
12-21141606-C-T	Cardiovascular phenotype	Uncertain significance (Mar 01, 2023)	2492460
12-21141639-G-C	Cardiovascular phenotype	Uncertain significance (Jun 16, 2023)	2604371
12-21141640-A-T	Rotor syndrome	Uncertain significance (Jan 13, 2018)	307931
12-21141653-T-C	Rotor syndrome	Likely benign (Dec 30, 2020)	1330676
12-21141659-G-A	Rotor syndrome	Uncertain significance (Dec 25, 2018)	632186
12-21141660-T-G	Rotor syndrome	Uncertain significance (Jul 16, 2021)	632187
12-21141851-G-A		Benign (May 19, 2021)	1282967
12-21172413-G-A		Benign (Nov 12, 2018)	1256789
12-21172689-A-C	Rotor syndrome	Uncertain significance (Jan 13, 2018)	881966
12-21172692-C-A	Cardiovascular phenotype	Uncertain significance (Jan 17, 2024)	3165786
12-21172717-C-T	Rotor syndrome	Uncertain significance (Oct 11, 2023)	2920753
12-21172734-C-T	Rotor syndrome	Uncertain significance (Apr 27, 2017)	881967
12-21172735-G-A	Rotor syndrome	Uncertain significance (Mar 29, 2022)	881968
12-21172749-T-C	Rotor syndrome	Uncertain significance (Jan 12, 2018)	307932
12-21172775-C-T	not specified • Rotor syndrome	Likely benign (Dec 30, 2020)	1284586
12-21172790-T-G	Rotor syndrome	Uncertain significance (Oct 09, 2020)	1330943
12-21172880-T-G		Benign (May 15, 2021)	1224048

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLCO1B1	protein_coding	protein_coding	ENST00000256958	14	108045

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.11e-21	0.00114	124942	8	783	125733	0.00315

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.897	404	356	1.13	0.0000169	4482
Missense in Polyphen		141	124.16	1.1357		1516
Synonymous	0.319	119	124	0.963	0.00000586	1313
Loss of Function	-0.0422	32	31.7	1.01	0.00000150	428

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0342	0.0339
Ashkenazi Jewish	0.00	0.00
East Asian	0.00514	0.00447
Finnish	0.00	0.00
European (Non-Finnish)	0.000320	0.000317
Middle Eastern	0.00514	0.00447
South Asian	0.00265	0.00258
Other	0.00115	0.00114

dbNSFP

Source: dbNSFP

Function: FUNCTION: Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver. {ECO:0000269|PubMed:10358072, ECO:0000269|PubMed:10601278, ECO:0000269|PubMed:12196548, ECO:0000269|PubMed:22232210}.;
Pathway: Methotrexate Pathway, Pharmacokinetics;Rosiglitazone Pharmacokinetic Pathway;Bile secretion - Homo sapiens (human);Statin Pathway - Generalized, Pharmacokinetics;Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics;Pravastatin Pathway, Pharmacokinetics;Fluvastatin Pathway, Pharmacokinetics;Rosuvastatin Pathway, Pharmacokinetics;Codeine and Morphine Pathway, Pharmacokinetics;Anti-diabetic Drug Repaglinide Pathway, Pharmacokinetics;Anti-diabetic Drug Nateglinide Pathway, Pharmacokinetics;Mycophenolic acid Pathway, Pharmacokinetics;Ibuprofen Pathway, Pharmacokinetics;Irinotecan Pathway, Pharmacokinetics;Rosiglitazone Metabolism Pathway;Mycophenolic Acid Metabolism Pathway;Irinotecan Action Pathway;Irinotecan Metabolism Pathway;Codeine and Morphine Metabolism;Drug Induction of Bile Acid Pathway;Irinotecan Pathway;Pregnane X Receptor pathway;Nuclear Receptors Meta-Pathway;Liver steatosis AOP;Metabolism of lipids;Tyrosine metabolism;Androgen and estrogen biosynthesis and metabolism;Leukotriene metabolism;Metabolism;Recycling of bile acids and salts;Bile acid and bile salt metabolism;Transport of vitamins, nucleosides, and related molecules;SLC-mediated transmembrane transport;Transport of small molecules;Metabolism of steroids;Bile acid biosynthesis;Porphyrin metabolism;Transport of organic anions (Consensus)

Recessive Scores

pRec: 0.198

Intolerance Scores

loftool: 0.994
rvis_EVS: 1.03
rvis_percentile_EVS: 91.07

Haploinsufficiency Scores

pHI: 0.0620
hipred: N
hipred_score: 0.112
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0264

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Slco1b2
Phenotype: liver/biliary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype;

Gene ontology

Biological process: organic anion transport;bile acid and bile salt transport;sodium-independent organic anion transport;transmembrane transport;thyroid hormone transport
Cellular component: plasma membrane;integral component of plasma membrane;membrane;basolateral plasma membrane
Molecular function: bile acid transmembrane transporter activity;sodium-independent organic anion transmembrane transporter activity;thyroid hormone transmembrane transporter activity