SLC2A10 solute carrier family 2 member 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC2A10provided by HGNC
Official Full Name: solute carrier family 2 member 10provided by HGNC
Primary source: HGNC:HGNC:13444
See related: Ensembl:ENSG00000197496 MIM:606145; AllianceGenome:HGNC:13444
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: ATS; ATORS; GLUT10
Summary: This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009]
Expression: Broad expression in prostate (RPKM 8.3), thyroid (RPKM 6.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (46708320..46736347)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (48444561..48472618)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (45338288..45364986)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

H22954, a long non-coding RNA, inhibits glucose uptake in leukemia cells in a GLUT10-dependent manner.
Title: H22954, a long non-coding RNA, inhibits glucose uptake in leukemia cells in a GLUT10-dependent manner.
Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?
Title: Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Title: Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
The Solute Carrier Family 2 Genes Are Potential Prognostic Biomarkers in Acute Myeloid Leukemia.
Title: The Solute Carrier Family 2 Genes Are Potential Prognostic Biomarkers in Acute Myeloid Leukemia.
Data show that GLUT10 regulates adipogenesis via ascorbic acid-dependent DNA demethylation to benefit proper white adipose tissue development and protect mice against high-fat diet (HFD)-induced metabolic dysregulation. These findings suggest that SLC2A10 may be an important HFD-associated susceptibility locus for type 2 diabetes mellitus.
Title: Glucose transporter 10 modulates adipogenesis via an ascorbic acid-mediated pathway to protect mice against diet-induced metabolic dysregulation.
We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10
Title: Arterial tortuosity syndrome: 40 new families and literature review.
We document a spectrum of ophthalmic manifestations of arterial tortuosity syndrome with universal findings of myopia, corneal thinning, and a propensity for corneal ectasia leading to keratoconus or keratoglobus. Heterozygous carriers may develop keratectasia after corneal refractive surgery
Title: Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.
GLUT10 is a dehydroascorbic acid (DAA) transporter and DAA transport is diminished in the endomembranes of fibroblasts from Arterial Tortuosity syndrome patients.
Title: Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.
GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts
Title: GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
100 ATS patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene. Study expanded the allelic repertoire of SLC2A10 by identifying two novel mutations.
Title: Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

Associated conditions

Description	Tests
Arterial tortuosity syndrome MedGen: C1859726 OMIM: 208050 GeneReviews: Arterial Tortuosity Syndrome	Compare labs

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

RH66093 (e-PCR)
- UniSTS:83466

SHGC-44522 (e-PCR)
- UniSTS:9995

D20S885 (e-PCR)
- UniSTS:30751

SGC44522 (e-PCR)
- UniSTS:54596

L18426 (e-PCR)
- UniSTS:34648

Z94364 (e-PCR)
- UniSTS:18566

STS-N36110 (e-PCR)
- UniSTS:41354

SLC2A10_1831 (e-PCR)
- UniSTS:281017

D20S893 (e-PCR)
- UniSTS:57820

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-glucose transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables D-glucose transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables D-glucose transmembrane transporter activity	TAS Traceable Author Statement more info
enables carbohydrate:proton symporter activity	NAS Non-traceable Author Statement more info	PubMed
enables dehydroascorbic acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables symporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within artery development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell redox homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in circulatory system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in dehydroascorbic acid transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within embryonic skeletal joint development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in galactose transmembrane transport	TAS Traceable Author Statement more info	PubMed
involved_in glucose import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucose transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in hexose transmembrane transport	TAS Traceable Author Statement more info
acts_upstream_of_or_within negative regulation of connective tissue growth factor production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
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 perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	RCA inferred from Reviewed Computational Analysis 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 10

Names: GLUT-10; facilitative glucose transporter GLUT10; glucose transporter type 10; solute carrier family 2 (facilitated glucose transporter), member 10

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.

Genomic

NG_016284.1 RefSeqGene

Range

5010..31708

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_030777.4 → NP_110404.1 solute carrier family 2, facilitated glucose transporter member 10

See identical proteins and their annotated locations for NP_110404.1

Status: REVIEWED

Source sequence(s)

AF248053, AF321240

Consensus CDS

CCDS13402.1

UniProtKB/Swiss-Prot

A8K4J6, O95528, Q3MIX5, Q9H4I6

UniProtKB/TrEMBL

B2RCT7, B3KP22

Related

ENSP00000352216.2, ENST00000359271.4

Conserved Domains (1) summary

cl26863
Location:11 → 512

Sugar_tr; Sugar (and other) transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

46708320..46736347

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529062.3 → XP_011527364.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X4

UniProtKB/TrEMBL

B2RCT7

Conserved Domains (2) summary

cd06174
Location:35 → 351

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 ...

COG0477
Location:37 → 344

ProP; MFS family permease [Carbohydrate transport and metabolism, Amino acid transport and metabolism, Inorganic ion transport and metabolism, General function prediction only]
XM_011529060.3 → XP_011527362.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X1

See identical proteins and their annotated locations for XP_011527362.1

UniProtKB/TrEMBL

B2RCT7, B3KP22

Conserved Domains (2) summary

cd06174
Location:35 → 518

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:32 → 533

Sugar_tr; Sugar (and other) transporter
XM_011529065.3 → XP_011527367.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X8

UniProtKB/TrEMBL

B2RCT7

Conserved Domains (2) summary

cd06174
Location:35 → 351

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:32 → 493

Sugar_tr; Sugar (and other) transporter
XM_047440528.1 → XP_047296484.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X3
XM_011529063.3 → XP_011527365.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X5

UniProtKB/TrEMBL

B2RCT7

Conserved Domains (2) summary

cd06174
Location:35 → 351

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:32 → 500

Sugar_tr; Sugar (and other) transporter
XM_011529064.3 → XP_011527366.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X7

Conserved Domains (2) summary

cd06174
Location:35 → 351

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 ...

COG0477
Location:37 → 344

ProP; MFS family permease [Carbohydrate transport and metabolism, Amino acid transport and metabolism, Inorganic ion transport and metabolism, General function prediction only]
XM_011529061.3 → XP_011527363.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X2

UniProtKB/TrEMBL

B2RCT7, B3KP22

Conserved Domains (2) summary

cd06174
Location:17 → 500

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:14 → 515

Sugar_tr; Sugar (and other) transporter
XM_047440529.1 → XP_047296485.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X6
XM_017028087.3 → XP_016883576.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X9

UniProtKB/TrEMBL

B2RCT7

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

48444561..48472618

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324094.1 → XP_054180069.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X8
XM_054324087.1 → XP_054180062.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X1
XM_054324090.1 → XP_054180065.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X4
XM_054324089.1 → XP_054180064.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X3
XM_054324091.1 → XP_054180066.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X10
XM_054324093.1 → XP_054180068.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X7
XM_054324088.1 → XP_054180063.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X2
XM_054324092.1 → XP_054180067.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X6
XM_054324095.1 → XP_054180070.1 solute carrier family 2, facilitated glucose transporter member 10 isoform X9