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    SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 [ Homo sapiens (human) ]

    Gene ID: 56606, updated on 5-Jul-2015
    Official Symbol
    SLC2A9provided by HGNC
    Official Full Name
    solute carrier family 2 (facilitated glucose transporter), member 9provided by HGNC
    Primary source
    HGNC:HGNC:13446
    See related
    Ensembl:ENSG00000109667; HPRD:05848; MIM:606142; Vega:OTTHUMG00000044263
    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]
    Orthologs
    See SLC2A9 in Epigenomics, MapViewer
    Location:
    4p16.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (9771125..10040248, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (9827848..10041872, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene eva-1 homolog C (C. elegans) pseudogene 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 uncharacterized LOC105374476 Neighboring gene uncharacterized LOC105374477 Neighboring gene microRNA 3138 Neighboring gene WD repeat domain 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Renal hypouricemia 2
    MedGen: C2677549 OMIM: 612076 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucose transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sugar:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sugar:proton symporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    glucose import IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    glucose transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    hexose transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    proton transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    proton transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    urate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    solute carrier family 2, facilitated glucose transporter member 9
    Names
    GLUT-9
    glucose transporter type 9
    human glucose transporter-like protein-9
    urate voltage-driven efflux transporter 1

    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_011540.1 RefSeqGene

      Range
      5001..219025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001290.1NP_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)
      AL572022, BC018897, CD629822
      Consensus CDS
      CCDS3406.1
      UniProtKB/Swiss-Prot
      Q9NRM0
      Related
      ENSP00000311383, ENST00000309065
      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_020041.2NP_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)
      AL572022, BC018897, BI821650, CD629819, CD629822
      Consensus CDS
      CCDS3407.1
      UniProtKB/Swiss-Prot
      Q9NRM0
      Related
      ENSP00000264784, OTTHUMP00000115633, ENST00000264784, OTTHUMT00000207055
      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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

      Range
      9771125..10040248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513857.1XP_011512159.1  

      See identical proteins and their annotated locations for XP_011512159.1

      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
    2. XM_011513858.1XP_011512160.1  

      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_011513856.1XP_011512158.1  

      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
    4. XM_011513862.1XP_011512164.1  

      See identical proteins and their annotated locations for XP_011512164.1

      Conserved Domains (2) summary
      cd06174
      Location:5334
      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:5334
      Sugar_tr; Sugar (and other) transporter
    5. XM_011513863.1XP_011512165.1  

      See identical proteins and their annotated locations for XP_011512165.1

      Conserved Domains (2) summary
      cd06174
      Location:5334
      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:5334
      Sugar_tr; Sugar (and other) transporter
    6. XM_011513864.1XP_011512166.1  

      Conserved Domains (2) 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 ...
      pfam00083
      Location:2330
      Sugar_tr; Sugar (and other) transporter
    7. XM_011513867.1XP_011512169.1  

      Conserved Domains (2) 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 ...
      pfam00083
      Location:1280
      Sugar_tr; Sugar (and other) transporter
    8. XM_006713968.2XP_006714031.1  

      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
    9. XM_011513861.1XP_011512163.1  

      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 ...
      pfam00083
      Location:57472
      Sugar_tr; Sugar (and other) transporter
    10. XM_011513860.1XP_011512162.1  

      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
    11. XM_011513859.1XP_011512161.1  

      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_006713969.2XP_006714032.1  

      Conserved Domains (2) summary
      cd06174
      Location:32224
      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:28402
      Sugar_tr; Sugar (and other) transporter
    13. XM_011513865.1XP_011512167.1  

      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
    14. XM_011513866.1XP_011512168.1  

      Conserved Domains (2) 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 ...
      pfam00083
      Location:57433
      Sugar_tr; Sugar (and other) transporter
    15. XM_011513868.1XP_011512170.1  

      Conserved Domains (2) summary
      cd06174
      Location:61253
      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:57372
      Sugar_tr; Sugar (and other) transporter

    RNA

    1. XR_925341.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      9825801..10040024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)