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FLASH GENE

Symbol

SLC23A2

contributors: mct/npt/pgu - updated : 25-08-2011

HGNC name	solute carrier family 23 (nucleobase transporters), member 2
HGNC id	10973

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	an additional 5'-UTR transcript variant termed exon 1b, in addition to the previously described exon 1a

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005116 17 - 6953 NP_005107 - 650 - Steiling (2007) NM_203327 17 - 6971 NP_976072 - 650 - Steiling (2007)

EXPRESSION

Type	ubiquitous

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       highly Homo sapiens Adult Endocrine adrenal gland       predominantly Homo sapiens Adult Nervous brain       highly Homo sapiens Adult   spinal cord         Respiratory lung         Urinary kidney         Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Homo sapiens Nervous central

cell lineage	stem cells
cell lines
fluid/secretion

at STAGE

physiological period

fetal

Text	its mRNA and protein levels were low in embryos and increased with age in brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N and C cytosolic termini
	twelve transmembrane spanning segments
	four potential N-linked glycosylation motifs and a conserved signaling motif
	potential sites for N-glycosylation in its extracellular domains (Asn-188, Asn-196), essential for vitamin C transporter functionality

HOMOLOGY

interspecies	homolog to C.elegans C51E3.6
	homolog to rattus Svct1

intraspecies

paralog to SLC23A1

Homologene

FAMILY	xanthine/uracil permease family
	SLC23A subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	sodium-dependent vitamin C transporter, required for transport of ascorbic acid into many tissues and across the placenta
	role in transporting the dietary essential micronutrient ascorbic acid, the reduced and active form of vitamin C
	uptake of ascorbic acid in the peripheral nervous system is crucially dependent on the expression and activity of SLC23A2
	mediating zinc-induced osteopontin and osteocalcin expression and partly regulating zinc induced osteoblastic differentiation
	plays an important role in cellular accumulation of ascorbic acid in liver cells
	critical for maintaining vitamin C levels in fetal and placental tissues
	SLC23A2-mediated uptake of vitamin C could play diverse roles on skeletal muscle development and physiology
	required for life and is critical during brain development to supply adequate levels of ASC (ascorbic acid)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

NOTCH, APP

cell & other

REGULATION

Other

is differentially regulated during embryonic development and in adulthood

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to preterm delivery

Variant & Polymorphism SNP	increasing the risk for preterm delivery

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology     therapeutic approaches to peripheral neuropathies by manipulation of SLC23A2 function

ANIMAL & CELL MODELS

	lack of Svct2, and the resulting low vitamin C levels, results in fetal death and, in SVCT2(-/-) mice that survive the gestation period, in oxidative stress and cell death
	mice that lack the Svct2 die at birth, despite the ability to synthesize their own ASC by embryonic day 15