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

Gene ID: 11182, updated on 12-Aug-2018

Summary

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; Vega:OTTHUMG00000020874
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

Genomic context

See SLC2A6 in Genome Data Viewer
Location:
9q34.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (133471094..133479154, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136336216..136344276, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene REX4 homolog, 3'-5' exonuclease Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 13 Neighboring gene calcium channel flower domain containing 1 Neighboring gene uncharacterized LOC102723855 Neighboring gene myomaker, myoblast fusion factor

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
D-glucose transmembrane transporter activity TAS
Traceable Author Statement
more info
 
carbohydrate:proton symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose transmembrane transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
hexose transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hexose transmembrane transport TAS
Traceable Author Statement
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

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_001145099.1NP_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, DC305025
    Consensus CDS
    CCDS48052.1
    UniProtKB/Swiss-Prot
    Q9UGQ3
    Related
    ENSP00000360964.4, OTTHUMP00000022490, ENST00000371897.8, OTTHUMT00000054910
    Conserved Domains (2) summary
    cd06174
    Location:42417
    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:41436
    Sugar_tr; Sugar (and other) transporter
  2. NM_017585.3NP_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
    Q9UGQ3
    Related
    ENSP00000360966.4, OTTHUMP00000022489, ENST00000371899.8, OTTHUMT00000054909
    Conserved Domains (1) summary
    cl26863
    Location:41498
    Sugar_tr; Sugar (and other) transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    133471094..133479154 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014237.2XP_016869726.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X3

  2. XM_017014238.2XP_016869727.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X3

  3. XM_011518189.3XP_011516491.2  solute carrier family 2, facilitated glucose transporter member 6 isoform X2

  4. XM_017014236.2XP_016869725.1  solute carrier family 2, facilitated glucose transporter member 6 isoform X1

RNA

  1. XR_001746175.2 RNA Sequence

  2. XR_001746174.2 RNA Sequence

  3. XR_001746172.2 RNA Sequence

  4. XR_001746173.2 RNA Sequence

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_009646201.1 Reference GRCh38.p12 PATCHES

    Range
    297188..305248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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