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

    Gene ID: 56606, updated on 2-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC2A9 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (9771025..10040270, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (9770809..10039839, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 15273 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:9945957-9947156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21303 Neighboring gene SLC2A9 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21304 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:10007559-10008758 Neighboring gene uncharacterized LOC124900664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21306 Neighboring gene Sharpr-MPRA regulatory region 5160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:10022603-10023102 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:10064967-10065581 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 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

    Gene Ontology Provided by GOA

    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
     
    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
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    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)

    NEW Try the new Transcript table

    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
      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
      Q0VGC4, Q4W5D1, Q8WV30, 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: GCF_000001405.40-RS_2024_08

    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
      9770809..10039839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350532.1XP_054206507.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X21

    2. XM_054350514.1XP_054206489.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X3

    3. XM_054350515.1XP_054206490.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X4

    4. XM_054350512.1XP_054206487.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X1

    5. XM_054350513.1XP_054206488.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X2

    6. XM_054350524.1XP_054206499.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X13

    7. XM_054350523.1XP_054206498.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X12

    8. XM_054350527.1XP_054206502.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X16

    9. XM_054350525.1XP_054206500.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X14

    10. XM_054350517.1XP_054206492.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X6

    11. XM_054350516.1XP_054206491.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X5

    12. XM_054350531.1XP_054206506.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X20

    13. XM_054350522.1XP_054206497.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X11

    14. XM_054350521.1XP_054206496.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X10

    15. XM_054350519.1XP_054206494.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X8

    16. XM_054350518.1XP_054206493.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X7

    17. XM_054350534.1XP_054206509.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X22

    18. XM_054350535.1XP_054206510.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X23

    19. XM_054350520.1XP_054206495.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X9

    20. XM_054350536.1XP_054206511.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X24

    21. XM_054350533.1XP_054206508.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X26

    22. XM_054350528.1XP_054206503.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X17

    23. XM_054350529.1XP_054206504.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X18

    24. XM_054350537.1XP_054206512.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X25

    25. XM_054350530.1XP_054206505.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X19

    26. XM_054350526.1XP_054206501.1  solute carrier family 2, facilitated glucose transporter member 9 isoform X15