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FLASH GENE

Symbol

SLC52A3

contributors: mct - updated : 15-06-2016

HGNC name	solute carrier family 52, riboflavin transporter, member 3
HGNC id	16187

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BVVLS Brown-Vialetto-Van Laere syndrome
Location	20p13      Physical location : -
Synonym name	hypothetical protein LOC113278
	riboflavin transporter 2
	chromosome 20 open reading frame 54
	riboflavin (RF) transporter-3
Synonym symbol(s)	MGC10698, bA371L19.1, RFT2, C20orf54, RFVT3

DNA

TYPE	functioning gene
STRUCTURE	8.51 kb     5 Exon(s)

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_033409 5 - 2716 NP_212134 50.7 469 - 2009 19122205

EXPRESSION

Rna function	jejunum, ileum
Type

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 Digestive intestine small intestine     highly Homo sapiens mRNA   intestine small intestine     highly Homo sapiens   intestine large intestine colon   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Digestive epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

twelve transmembrane (potential) domains

HOMOLOGY

interspecies	homolog to Drosophila CG11576
	ortholog to rat rRFT2

Homologene

FAMILY

PERVR family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
text	a potential role for specific cysteine residues in the cell surface expression of SLC52A3 in human intestinal epithelial cells (

basic FUNCTION	involved in the synthesis of molecules with pivotal role in cell energy metabolism
	could transport riboflavin efficiently, and may play a role in the intestinal absorption of riboflavin
	involved in the intestinal absorption of riboflavin (
	transporter involved in the epithelial uptake of riboflavin in the small intestine for its nutritional utilization (
	responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for esophageal squamous cell carcinoma (ESCC)
	likely to have an important role in esophageal and gastric cardia carcinogenesis that involves modulating riboflavin absorption
	is involved in intestinal absorption of vitamin B2

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

TMEM237 is a putative interactor with SLC52A3 and the interaction has physiological/biological significance

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BVVLS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in gastric cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS