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FLASH GENE

Symbol

SLC2A10

contributors: mct - updated : 23-03-2020

HGNC name	solute carrier family 2 (facilitated glucose transporter), member 10
HGNC id	13444

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ATS arterial tortuosity syndrome
Location	20q13.12      Physical location : 45.338.278 - 45.364.983
Synonym name	sugar transporter GLUT10
Synonym symbol(s)	GLUT10, GT10, ATORS, MGC126706

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	26.71 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	two major transcription start points with differential use in tissues and cell lines, harboring consensus binding sites for Sp, AP2alpha, and other transcription
	a juxtaposed Sp/AP2alpha motif located between -25 and -11 is critical for core promoter function factors
	a silencer region is present upstream of -696 which down-regulates SLC2A10 promoter activity independently of its distance to the transcript start site

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_030777 5 splicing 4394 NP_110404 56.9 541 - 2001 11247674 - - splicing 1350 - - skeletal muscle 2001 11247674 - - splicing 240 - - lung, liver 2001 11247674

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver         Endocrine pancreas           parathyroid       highly Hearing/Equilibrium ear inner vestibule     Mus musculus   ear inner cochlea     Mus musculus Reproductive female system breast mammary gland   highly Respiratory respiratory tract trachea     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Muscular smooth vessel     Homo sapiens Muscular striatum skeletal   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol not specific adipocyte Homo sapiens Skin/Tegument melanocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve putative transmembrane domains with a hydrophilic intracellular loop between helices 6 and 7
	a large extracellular loop (containing a potential N linked glycosylation site) between helices 9 and 10

HOMOLOGY

interspecies

homolog to murine Slc2a10

Homologene

FAMILY

solute carrier family 2, sugar transporter

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	localizes predominantly to the mitochondria of smooth muscle cells and insulin-stimulated adipocytes
	0 is present in the ER
	targeting of SLC2A10 to mitochondria is important to maintain redox homeostasis, mitochondrial structure and mitochondrial function in arterial smooth muscle cells (ASMCS)

basic FUNCTION	playing a role in maintaining glucose homeostasis
	may be transporting ascorbate, a cofactor for collagen and elastin hydroxylases, into the secretory pathway
	evidence for SLC2A9 and SLC2A12 expression in vascular smooth muscle cells (VSMCs) in conjunction with the previously identified SLC2A1 and SLC2A10
	facilitates transport of l-dehydroascorbic acid (DHA), the oxidized form of vitamin C, into mitochondria, and also increases cellular uptake of DHA, which in turn protects cells against oxidative stress
	physiological role as the mitochondrial DHA transporter, and protects cells from oxidative injury
	is essential for cardiovascular development by facilitating both mitochondrial respiration and TGFB1 signaling
	facilitates dehydroascorbic acid transport
	may have a role in maintaining the integrity of peripheral arteries
	may contribute to glucose transport from the endolymph to the hair cells across the cuticular plate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

facilitated diffusion transport

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ATS

Susceptibility

to type 2 diabetes mellitus

Variant & Polymorphism SNP	associated with the risk of type 2 diabetes mellitus

Candidate gene
Marker	SLC2A5 with SLC2A10, and SLC2A13, are potential prognostic biomarkers in acute myeloid leukemia
Therapy target

ANIMAL & CELL MODELS