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    SLC2A6 solute carrier family 2 member 6 [ Homo sapiens (human) ]

    Gene ID: 11182, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC2A6provided by HGNC
    Official Full Name
    solute carrier family 2 member 6provided by HGNC
    Primary source
    HGNC:HGNC:11011
    See related
    Ensembl:ENSG00000160326 MIM:606813; AllianceGenome:HGNC:11011
    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
    GLUT6; GLUT9; HSA011372
    Summary
    Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]
    Expression
    Broad expression in spleen (RPKM 3.2), appendix (RPKM 3.1) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC2A6 in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133471094..133479099, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145685501..145693506, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136336216..136344221, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20457 Neighboring gene REX4 homolog, 3'-5' exonuclease Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29238 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20458 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136295843-136296052 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136321575-136321727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136322178-136323045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136327558-136328114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29242 Neighboring gene uncharacterized LOC124902295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20462 Neighboring gene calcium channel flower domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136344231-136344732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136349490-136350005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136350521-136351036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136351037-136351551 Neighboring gene uncharacterized LOC102723855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136374104-136374823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136377760-136378446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136385034-136385534 Neighboring gene myomaker, myoblast fusion factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Activity and genomic organization of human glucose transporter 9 (GLUT9), a novel member of the family of sugar-transport facilitators predominantly expressed in brain and leucocytes. Doege H, et al. Biochem J, 2000 Sep 15. PMID 10970791, Free PMC Article
    2. The NF-κB signalling pathway regulates GLUT6 expression in endometrial cancer. Caruana BT, et al. Cell Signal, 2020 Sep. PMID 32512041
    3. Association between GLUT9 and gout in Japanese men. Urano W, et al. Ann Rheum Dis, 2010 May. PMID 20413573
    4. The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. Li S, et al. PLoS Genet, 2007 Nov. PMID 17997608, Free PMC Article
    5. GLUT6 is a lysosomal transporter that is regulated by inflammatory stimuli and modulates glycolysis in macrophages. Maedera S, et al. FEBS Lett, 2019 Jan. PMID 30431159

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SREBP2/Rab11s/GLUT1/6 network regulates proliferation and migration of glioblastoma.
      Title: SREBP2/Rab11s/GLUT1/6 network regulates proliferation and migration of glioblastoma.
    2. The NF-kappaB signalling pathway regulates GLUT6 expression in endometrial cancer.
      Title: The NF-κB signalling pathway regulates GLUT6 expression in endometrial cancer.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    4. The expression pattern of GLUT9 is reported in newly diagnosed esophageal adenocarcinoma by means of immunohistochemistry.
      Title: Expression of hexokinases and glucose transporters in treated and untreated oesophageal adenocarcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.
    EBI GWAS Catalog
    The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables D-glucose transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables D-glucose transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables D-glucose transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables D-glucose transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables dehydroascorbic acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables fructose transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    NOT involved_in D-glucose transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in D-glucose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dehydroascorbic acid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fructose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in hexose transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 2, facilitated glucose transporter member 6
    Names
    GLUT-6
    GLUT-9
    glucose transporter type 6
    glucose transporter type 9
    solute carrier family 2 (facilitated glucose transporter), member 6

    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.

    mRNA and Protein(s)

    1. NM_001145099.2 → NP_001138571.1  solute carrier family 2, facilitated glucose transporter member 6 isoform 2

      See identical proteins and their annotated locations for NP_001138571.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) is missing an in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AJ011372, AK074836, CA306069
      Consensus CDS
      CCDS48052.1
      UniProtKB/Swiss-Prot
      Q9UGQ3
      Related
      ENSP00000360964.4, ENST00000371897.8
      Conserved Domains (2) summary
      cd06174
      Location:42 → 417
      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:41 → 436
      Sugar_tr; Sugar (and other) transporter

    2. NM_017585.4 → NP_060055.2  solute carrier family 2, facilitated glucose transporter member 6 isoform 1

      See identical proteins and their annotated locations for NP_060055.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AJ011372, AK222919, CA306069, DC305025
      Consensus CDS
      CCDS6975.1
      UniProtKB/Swiss-Prot
      A6NNU6, Q5SXD7, Q8NCC2, Q9UGQ3
      Related
      ENSP00000360966.4, ENST00000371899.9
      Conserved Domains (1) summary
      cd17434
      Location:39 → 493
      MFS_GLUT6_Class3; Glucose transporter type 6, a Class 3 GLUT, of the Major Facilitator Superfamily of transporters

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      133471094..133479099 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518189.4 → XP_011516491.2  solute carrier family 2, facilitated glucose transporter member 6 isoform X2

    2. XM_017014237.3 → XP_016869726.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X6

    3. XM_047422705.1 → XP_047278661.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X1

    4. XM_047422708.1 → XP_047278664.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X5

      Related
      ENSP00000405124.1, ENST00000432868.1

    5. XM_047422706.1 → XP_047278662.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X3

    6. XM_047422707.1 → XP_047278663.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X4

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646201.1 Reference GRCh38.p14 PATCHES

      Range
      297188..305193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331579.1 → XP_054187554.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X6

    2. XM_054331575.1 → XP_054187550.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X1

    3. XM_054331578.1 → XP_054187553.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X5

    4. XM_054331576.1 → XP_054187551.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X3

    5. XM_054331577.1 → XP_054187552.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145685501..145693506 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361882.1 → XP_054217857.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X6

    2. XM_054361878.1 → XP_054217853.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X1

    3. XM_054361881.1 → XP_054217856.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X5

    4. XM_054361879.1 → XP_054217854.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X3

    5. XM_054361880.1 → XP_054217855.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UGQ3.2 GenPept UniProtKB/Swiss-Prot:Q9UGQ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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