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    SLC2A2 solute carrier family 2 member 2 [ Homo sapiens (human) ]

    Gene ID: 6514, updated on 28-Oct-2024

    Summary

    Official Symbol
    SLC2A2provided by HGNC
    Official Full Name
    solute carrier family 2 member 2provided by HGNC
    Primary source
    HGNC:HGNC:11006
    See related
    Ensembl:ENSG00000163581 MIM:138160; AllianceGenome:HGNC:11006
    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
    GLUT2
    Summary
    This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in liver (RPKM 193.6), duodenum (RPKM 35.6) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SLC2A2 in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (170996347..171026720, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (173780683..173811030, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (170714136..170744509, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene KLF7 pseudogene 1 Neighboring gene RNA, U1 small nuclear 70, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14889 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:170779459-170780037 Neighboring gene MPRA-validated peak4922 silencer Neighboring gene uncharacterized LOC105374216 Neighboring gene TRAF2 and NCK interacting kinase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:170834472-170835140 Neighboring gene microRNA 569 Neighboring gene Sharpr-MPRA regulatory region 1564 Neighboring gene Sharpr-MPRA regulatory region 12227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14890 Neighboring gene NANOG hESC enhancer GRCh37_chr3:170904542-170905069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20808 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:170924049-170924658 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:170952794-170952983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20813 Neighboring gene VISTA enhancer hs2120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20814 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:171101812-171102358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20815 Neighboring gene uncharacterized LOC124906303

    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
    Fanconi-Bickel syndrome
    MedGen: C3495427 OMIM: 227810 GeneReviews: Not available
    Compare labs
    Type 2 diabetes mellitus
    MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in brush border IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    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 2
    Names
    glucose transporter type 2, liver
    solute carrier family 2 (facilitated glucose transporter), member 2

    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_008108.1 RefSeqGene

      Range
      5260..35633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000340.2NP_000331.1  solute carrier family 2, facilitated glucose transporter member 2 isoform 1

      See identical proteins and their annotated locations for NP_000331.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC061708, AC092918, J03810
      Consensus CDS
      CCDS3215.1
      UniProtKB/Swiss-Prot
      A8K481, B2R936, B7Z547, F8W8V8, P11168, Q9UCW9
      Related
      ENSP00000323568.3, ENST00000314251.8
      Conserved Domains (2) summary
      cd06174
      Location:98485
      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:14499
      Sugar_tr; Sugar (and other) transporter
    2. NM_001278658.2NP_001265587.1  solute carrier family 2, facilitated glucose transporter member 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC061708, AK298418, J03810
      UniProtKB/Swiss-Prot
      P11168
      Conserved Domains (2) summary
      cd06174
      Location:2366
      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:5380
      Sugar_tr; Sugar (and other) transporter
    3. NM_001278659.2NP_001265588.1  solute carrier family 2, facilitated glucose transporter member 2 isoform 3

      See identical proteins and their annotated locations for NP_001265588.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate exon in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3 which is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC061708, BC060041, J03810
      UniProtKB/TrEMBL
      Q6PAU8
      Conserved Domains (1) summary
      pfam00083
      Location:1326
      Sugar_tr; Sugar (and other) transporter

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      170996347..171026720 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513087.3XP_011511389.1  solute carrier family 2, facilitated glucose transporter member 2 isoform X1

      Conserved Domains (2) summary
      cd06174
      Location:83470
      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:70484
      Sugar_tr; Sugar (and other) transporter
    2. XM_047448761.1XP_047304717.1  solute carrier family 2, facilitated glucose transporter member 2 isoform X2

      UniProtKB/TrEMBL
      Q6PAU8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      173780683..173811030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347610.1XP_054203585.1  solute carrier family 2, facilitated glucose transporter member 2 isoform X1

    2. XM_054347611.1XP_054203586.1  solute carrier family 2, facilitated glucose transporter member 2 isoform X2

      UniProtKB/TrEMBL
      Q6PAU8