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

Gene ID: 6514, updated on 24-Nov-2020

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
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

Genomic context

See SLC2A2 in Genome Data Viewer
Location:
3q26.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (170996341..171026721, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (170714137..170744768, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene kruppel like factor 7 pseudogene 1 Neighboring gene RNA, U1 small nuclear 70, pseudogene Neighboring gene uncharacterized LOC105374216 Neighboring gene TRAF2 and NCK interacting kinase Neighboring gene microRNA 569 Neighboring gene Sharpr-MPRA regulatory region 12227

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
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
GeneReviews: Not available
Diabetes mellitus type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
not available
Fanconi-Bickel syndrome
MedGen: C3495427 OMIM: 227810 GeneReviews: Not available
not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
GeneReviews: Not available

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
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
dehydroascorbic acid transport IDA
Inferred from Direct Assay
more info
PubMed 
fructose transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
glucose transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
glucose transmembrane transport TAS
Traceable Author Statement
more info
 
hexose transmembrane transport TAS
Traceable Author Statement
more info
 
intestinal hexose absorption TAS
Traceable Author Statement
more info
 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
brush border IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    P11168
    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/Swiss-Prot
    P11168
    UniProtKB/TrEMBL
    Q6PAU8
    Conserved Domains (1) summary
    pfam00083
    Location:1326
    Sugar_tr; Sugar (and other) transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    170996341..171026721 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453720.1XP_024309488.1  solute carrier family 2, facilitated glucose transporter member 2 isoform X2

    Conserved Domains (1) summary
    pfam00083
    Location:1326
    Sugar_tr; Sugar (and other) transporter
  2. XM_011513087.2XP_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
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