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SLC2A9 solute carrier family 2 member 9 [ Homo sapiens (human) ]

Gene ID: 56606, updated on 18-Oct-2022

Summary

Official Symbol
SLC2A9provided by HGNC
Official Full Name
solute carrier family 2 member 9provided by HGNC
Primary source
HGNC:HGNC:13446
See related
Ensembl:ENSG00000109667 MIM:606142; AllianceGenome:HGNC:13446
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GLUT9; GLUTX; UAQTL2; URATv1
Summary
This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in kidney (RPKM 4.4), liver (RPKM 1.6) and 18 other tissues See more
Orthologs
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Genomic context

See SLC2A9 in Genome Data Viewer
Location:
4p16.1
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (9771025..10040270, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (9826017..10039839, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (9827848..10041894, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene EVA1C pseudogene 1 Neighboring gene olfactory receptor family 7 subfamily E member 35 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 154 Neighboring gene dopamine receptor D5 Neighboring gene SLC2A9 antisense RNA 1 Neighboring gene uncharacterized LOC124900664 Neighboring gene Sharpr-MPRA regulatory region 5160 Neighboring gene uncharacterized LOC124900665 Neighboring gene microRNA 3138 Neighboring gene WD repeat domain 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypouricemia, renal, 2
MedGen: C2677549 OMIM: 612076 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
EBI GWAS Catalog
A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.
EBI GWAS Catalog
A genome-wide association study of serum uric acid in African Americans.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.
EBI GWAS Catalog
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
EBI GWAS Catalog
Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.
EBI GWAS Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans.
EBI GWAS Catalog
Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.
EBI GWAS Catalog
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
EBI GWAS Catalog
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
EBI GWAS Catalog
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog
Identification of low-frequency variants associated with gout and serum uric acid levels.
EBI GWAS Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
EBI GWAS Catalog
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
EBI GWAS Catalog
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
EBI GWAS Catalog
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.
EBI GWAS Catalog
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
EBI GWAS Catalog
The genetic architecture of economic and political preferences.
EBI GWAS Catalog
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in fructose transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glucose transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glucose transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in hexose transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in monosaccharide transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in urate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in urate transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
solute carrier family 2, facilitated glucose transporter member 9
Names
GLUT-9
glucose transporter type 9
human glucose transporter-like protein-9
solute carrier family 2 (facilitated glucose transporter), member 9
urate transporter
urate voltage-driven efflux transporter 1

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.

Genomic

  1. NG_011540.2 RefSeqGene

    Range
    23773..219046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001290.2NP_001001290.1  solute carrier family 2, facilitated glucose transporter member 9 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as GLUT9deltaN, contains alternate in-frame segments in the 5' UTR and coding region and uses a different start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC005674, AL572022, BC018897, CD629822
    Consensus CDS
    CCDS3406.1
    UniProtKB/Swiss-Prot
    Q9NRM0
    Related
    ENSP00000311383.3, ENST00000309065.7
    Conserved Domains (2) summary
    cd06174
    Location:32469
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam00083
    Location:28485
    Sugar_tr; Sugar (and other) transporter
  2. NM_020041.3NP_064425.2  solute carrier family 2, facilitated glucose transporter member 9 isoform 1

    See identical proteins and their annotated locations for NP_064425.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript, and encodes the longer isoform (1).
    Source sequence(s)
    AC005674, AL572022, BC018897, BI821650, CD629819, CD629822
    Consensus CDS
    CCDS3407.1
    UniProtKB/Swiss-Prot
    Q96P00, Q9NRM0
    Related
    ENSP00000264784.3, ENST00000264784.8
    Conserved Domains (1) summary
    cd17432
    Location:59510
    MFS_GLUT_Class2; Class 2 Glucose transporters (GLUTs) of the Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    9771025..10040270 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513867.4XP_011512169.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X21

    Conserved Domains (1) summary
    cd06174
    Location:1280
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  2. XM_011513858.2XP_011512160.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X3

    See identical proteins and their annotated locations for XP_011512160.1

    Conserved Domains (2) summary
    cd06174
    Location:32437
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00895
    Location:26433
    2A0115; benzoate transport
  3. XM_047415973.1XP_047271929.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X4

  4. XM_011513856.4XP_011512158.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X1

    Conserved Domains (2) summary
    cd06174
    Location:61466
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00895
    Location:48462
    2A0115; benzoate transport
  5. XM_017008457.3XP_016863946.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X2

  6. XM_047415976.1XP_047271932.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X13

  7. XM_024454151.2XP_024309919.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X12

    Conserved Domains (1) summary
    cl26863
    Location:1337
    Sugar_tr; Sugar (and other) transporter
  8. XM_017008459.2XP_016863948.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X16

    Conserved Domains (1) summary
    cl28910
    Location:1312
    MFS; Major Facilitator Superfamily
  9. XM_011513864.3XP_011512166.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X14

    Conserved Domains (1) summary
    cd06174
    Location:10330
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  10. XM_047415974.1XP_047271930.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X6

  11. XM_006713968.5XP_006714031.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X5

    Conserved Domains (2) summary
    cd06174
    Location:61498
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam00083
    Location:57514
    Sugar_tr; Sugar (and other) transporter
  12. XM_047415977.1XP_047271933.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X20

  13. XM_011513861.4XP_011512163.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X11

    Conserved Domains (2) summary
    cd06174
    Location:61472
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00895
    Location:48462
    2A0115; benzoate transport
  14. XM_017008458.3XP_016863947.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X10

  15. XM_011513860.4XP_011512162.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X8

    Conserved Domains (2) summary
    cd06174
    Location:61498
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam00083
    Location:57514
    Sugar_tr; Sugar (and other) transporter
  16. XM_011513859.4XP_011512161.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X7

    Conserved Domains (2) summary
    cd06174
    Location:61498
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam00083
    Location:57514
    Sugar_tr; Sugar (and other) transporter
  17. XM_017008460.3XP_016863949.2  solute carrier family 2, facilitated glucose transporter member 9 isoform X22

  18. XM_047415978.1XP_047271934.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X23

  19. XM_047415975.1XP_047271931.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X9

  20. XM_047415979.1XP_047271935.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X24

  21. XM_011513865.3XP_011512167.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X17

    Conserved Domains (2) summary
    cd06174
    Location:61432
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00895
    Location:48437
    2A0115; benzoate transport
  22. XM_011513866.3XP_011512168.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X18

    Conserved Domains (1) summary
    cd06174
    Location:61431
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  23. XM_047415980.1XP_047271936.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X25

  24. XM_024454153.2XP_024309921.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X19

    Conserved Domains (1) summary
    cl26863
    Location:57432
    Sugar_tr; Sugar (and other) transporter
  25. XM_024454152.2XP_024309920.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X15

    Conserved Domains (1) summary
    cl26863
    Location:57433
    Sugar_tr; Sugar (and other) transporter

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    9826017..10039839 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)