SLC22A9 solute carrier family 22 member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC22A9provided by HGNC
Official Full Name: solute carrier family 22 member 9provided by HGNC
Primary source: HGNC:HGNC:16261
See related: Ensembl:ENSG00000149742 MIM:607579; AllianceGenome:HGNC:16261
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OAT4; OAT7; ust3; HOAT4; UST3H
Summary: Enables short-chain fatty acid transmembrane transporter activity and sodium-independent organic anion transmembrane transporter activity. Involved in hormone transport; short-chain fatty acid transmembrane transport; and sodium-independent organic anion transport. Located in basolateral plasma membrane. Implicated in Lynch syndrome and mismatch repair cancer syndrome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward liver (RPKM 8.3) See more
Orthologs: all
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Genomic context

Location:: 11q12.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (63369785..63410294)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (63359056..63399553)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (63137257..63177766)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Membrane Transporter OAT7 (SLC22A9) Is Not a Susceptibility Factor for Osteoporosis in Europeans.
Title: The Membrane Transporter OAT7 (SLC22A9) Is Not a Susceptibility Factor for Osteoporosis in Europeans.
Large interindividual variability was noted in the hepatic expression of OAT2 (16-fold in human liver tissue and 23-fold in hepatocytes). OAT7, on the other hand, showed less interindividual variability (4-fold) in the livers, but high variability for the hepatocyte lots (27-fold). A significant positive correlation in OAT2 and OAT7 expression was observed, but expression levels were neither associated with age nor sex.
Title: Quantification of Hepatic Organic Anion Transport Proteins OAT2 and OAT7 in Human Liver Tissue and Primary Hepatocytes.
two human organic anion transporters OAT2 and OAT7 activities were assessed.
Title: In vitro studies with two human organic anion transporters: OAT2 and OAT7.
Pravastatin is the first identified OAT7 drug substrate. Substantial inter-individual variability in hepatic OAT7 expression, majorly driven by HNF4alpha, may contribute to pravastatin drug disposition and might affect response.
Title: Variability in hepatic expression of organic anion transporter 7/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Human organic anion transporter hOAT4 is a transporter of perfluorooctanoic acid.
Title: Human organic anion transporter hOAT4 is a transporter of perfluorooctanoic acid.
The data provide a model for the concerted action of OAT1 mediating apical secretion of glutarate derivatives from proximal tubule cells
Title: Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias.
Functional differences in steroid uptake of SLC22A9 and SLC02B1 in human placenta are reported.
Title: Functional differences in steroid sulfate uptake of organic anion transporter 4 (OAT4) and organic anion transporting polypeptide 2B1 (OATP2B1) in human placenta.
Review summarizes current knowledge on the functional and phenotypic consequences of genetic variation in intestinally, hepatically and renally expressed members of solute carrier family (SLC22) member 9.
Title: Pharmacogenetics of OATP (SLC21/SLCO), OAT and OCT (SLC22) and PEPT (SLC15) transporters in the intestine, liver and kidney.
The regulatory single nucleotide polymorphism (SNP) of OAT4 found in the promoter region of nephrectomized patients is unlikely to influence mRNA expression or promoter activity of OAT4.
Title: Analysis of regulatory polymorphisms in organic ion transporter genes (SLC22A) in the kidney.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
The genetic architecture of economic and political preferences. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SLC22A9_2575 (e-PCR)
- UniSTS:463899

SHGC-37520 (e-PCR)
- UniSTS:10780

RH78712 (e-PCR)
- UniSTS:65087

A009V38 (e-PCR)
- UniSTS:17546

RH79253 (e-PCR)
- UniSTS:84656

G32890 (e-PCR)
- UniSTS:117469

SHGC-84429 (e-PCR)
- UniSTS:182496

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables organic anion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables short-chain fatty acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium-independent organic anion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in hormone transport	IDA Inferred from Direct Assay more info	PubMed
involved_in organic anion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in short-chain fatty acid transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium-independent organic anion transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: organic anion transporter 7

Names: organic anion transporter 4; organic anion/short-chain fatty acid exchanger; solute carrier family 22 (organic anion transporter), member 9; solute carrier family 22 (organic anion/cation transporter), member 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.