SLC2A8 solute carrier family 2 member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC2A8provided by HGNC
Official Full Name: solute carrier family 2 member 8provided by HGNC
Primary source: HGNC:HGNC:13812
See related: Ensembl:ENSG00000136856 MIM:605245; AllianceGenome:HGNC:13812
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: GLUT8; GLUTX1
Summary: This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
Expression: Broad expression in testis (RPKM 16.3), adrenal (RPKM 7.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (127397169..127407898)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (139603648..139615379)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130159448..130170177)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Humanin (HN) and glucose transporter 8 (GLUT8) in pregnancies complicated by intrauterine growth restriction
Title: Humanin (HN) and glucose transporter 8 (GLUT8) in pregnancies complicated by intrauterine growth restriction.
these data suggest that cytoplasmic trehalose access is carrier-mediated, and that GLUT8 is a mammalian trehalose transporter required for hepatocyte trehalose-induced autophagy and signal transduction.
Title: SLC2A8 (GLUT8) is a mammalian trehalose transporter required for trehalose-induced autophagy.
glucose/fructose is transported into the cytoplasm of vimentin- or GFAP-positive astrocytic and CD68- or HLA-DR-positive microglial cells located around the lateral ventricle
Title: Glucose transporter 8 immunoreactivity in astrocytic and microglial cells in subependymal areas of human brains.
The findings support the hypothesis of the transport of intravascularGLUT8 through the epithelial cells of the choroid plexus and the ependymal cells.
Title: Immunoreactivity of glucose transporter 8 is localized in the epithelial cells of the choroid plexus and in ependymal cells.
GLUT8 is thus essential for hepatocyte fructose transport and fructose-induced macrosteatosis.
Title: Glucose transporter 8 (GLUT8) mediates fructose-induced de novo lipogenesis and macrosteatosis.
SLC2A8 is upregulated in fast progressing Alzheimer's disease patients, compared to slow progressors.
Title: Gene expression profiling of peripheral blood leukocytes shows consistent longitudinal downregulation of TOMM40 and upregulation of KIR2DL5A, PLOD1, and SLC2A8 among fast progressors in early Alzheimer's disease.
Critical roles for novel GLUT family members highlight a therapeutic strategy entailing selective GLUT inhibition to specifically target aberrant glucose metabolism in cancer.
Title: Multiple myeloma exhibits novel dependence on GLUT4, GLUT8, and GLUT11: implications for glucose transporter-directed therapy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variability of the fatty acid synthase pathway is not associated with prostate cancer risk in the European Prospective Investigation on Cancer (EPIC).
The expression pattern of GLUT8 is reported in newly diagnosed esophageal adenocarcinoma by means of immunohistochemistry.
Title: Expression of hexokinases and glucose transporters in treated and untreated oesophageal adenocarcinoma.
The recruitment of GLUT8 to the endocytic machinery occurs via direct interaction of the dileucine motif with beta2-adaptin, and that endocytosis might be the main site at which GLUT8 is likely to be regulated.
Title: Endocytosis of the glucose transporter GLUT8 is mediated by interaction of a dileucine motif with the beta2-adaptin subunit of the AP-2 adaptor complex.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94275 (e-PCR)
- UniSTS:90893

RH91499 (e-PCR)
- UniSTS:84027

SLC2A8_3313 (e-PCR)
- UniSTS:462536

A005N15 (e-PCR)
- UniSTS:5064

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-glucose binding	IEA Inferred from Electronic Annotation more info
enables D-glucose transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables D-glucose transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
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

Process	Evidence Code	Pubs
involved_in D-glucose transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in D-glucose transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
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 insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in lysosomal membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
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 8

Names: glucose transporter type 8; glucose transporter type X1; solute carrier family 2 (facilitated glucose transporter), member 8

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)

NM_001271711.2 → NP_001258640.1 solute carrier family 2, facilitated glucose transporter member 8 isoform 2

See identical proteins and their annotated locations for NP_001258640.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform 2 is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF289587, AI818661, AL445222, BC019043, HY025817

Consensus CDS

CCDS65138.1

UniProtKB/TrEMBL

Q5VVV9

Related

ENSP00000362458.3, ENST00000373360.7

Conserved Domains (1) summary

cd06174
Location:38 → 331

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 ...
NM_001271712.2 → NP_001258641.1 solute carrier family 2, facilitated glucose transporter member 8 isoform 3

See identical proteins and their annotated locations for NP_001258641.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AI818661, BC019043, BX395379, HY025817

Consensus CDS

CCDS75903.1

UniProtKB/TrEMBL

A0A087WT42, Q5VVV4

Related

ENSP00000477568.1, ENST00000610552.4

Conserved Domains (1) summary

cd06174
Location:90 → 296

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 ...
NM_014580.5 → NP_055395.2 solute carrier family 2, facilitated glucose transporter member 8 isoform 1

See identical proteins and their annotated locations for NP_055395.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform 1.

Source sequence(s)

AF289587, AL445222, BC019043, HY025817

Consensus CDS

CCDS6870.1

UniProtKB/Swiss-Prot

Q8WUZ9, Q9NSC4, Q9NY64

Related

ENSP00000362469.3, ENST00000373371.8

Conserved Domains (2) summary

cd06174
Location:38 → 459

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 ...

PRK10077
Location:36 → 472

xylE; D-xylose transporter XylE; Provisional

RNA

NR_073416.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF289587, AL445222, BC019043, BM044230, HY025817

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

127397169..127407898

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423283.1 → XP_047279239.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X1
XM_047423287.1 → XP_047279243.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X4
XM_047423285.1 → XP_047279241.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X2
XM_011518602.3 → XP_011516904.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X5

Conserved Domains (2) summary

cd06174
Location:38 → 433

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 ...

PRK10077
Location:36 → 446

xylE; D-xylose transporter XylE; Provisional
XM_017014653.2 → XP_016870142.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X14

UniProtKB/TrEMBL

Q5VVV3, Q8WZ05

Conserved Domains (1) summary

pfam00083
Location:1 → 187

Sugar_tr; Sugar (and other) transporter
XM_047423293.1 → XP_047279249.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X12
XM_047423286.1 → XP_047279242.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X3
XM_006717084.4 → XP_006717147.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X6

Conserved Domains (1) summary

cd06174
Location:38 → 423

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 ...
XM_024447526.2 → XP_024303294.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X13

UniProtKB/TrEMBL

Q5VVV4

Related

ENSP00000391213.1, ENST00000430147.1

Conserved Domains (1) summary

cl26863
Location:1 → 261

Sugar_tr; Sugar (and other) transporter
XM_047423294.1 → XP_047279250.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X15
XM_047423288.1 → XP_047279244.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X7
XM_047423289.1 → XP_047279245.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X9
XM_047423290.1 → XP_047279246.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X11
XM_047423292.1 → XP_047279248.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X11
XM_011518603.4 → XP_011516905.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X8

UniProtKB/TrEMBL

Q5VVV4

Conserved Domains (1) summary

cd06174
Location:118 → 324

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 ...
XM_011518604.4 → XP_011516906.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X10

Conserved Domains (1) summary

cd06174
Location:8 → 298

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 ...

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

139603648..139615379

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362834.1 → XP_054218809.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X1
XM_054362837.1 → XP_054218812.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X4
XM_054362835.1 → XP_054218810.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X2
XM_054362838.1 → XP_054218813.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X5
XM_054362848.1 → XP_054218823.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X14

UniProtKB/TrEMBL

Q8WZ05
XM_054362846.1 → XP_054218821.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X12
XM_054362836.1 → XP_054218811.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X3
XM_054362839.1 → XP_054218814.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X6
XM_054362847.1 → XP_054218822.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X13
XM_054362849.1 → XP_054218824.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X15
XM_054362840.1 → XP_054218815.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X7
XM_054362842.1 → XP_054218817.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X9
XM_054362844.1 → XP_054218819.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X11
XM_054362845.1 → XP_054218820.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X11
XM_054362841.1 → XP_054218816.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X8
XM_054362843.1 → XP_054218818.1 solute carrier family 2, facilitated glucose transporter member 8 isoform X10