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FLASH GENE

Symbol

SLC52A2

contributors: mct - updated : 13-06-2014

HGNC name	solute carrier family 52, riboflavin transporter, member 2
HGNC id	30224

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BVVLS2 Brown-Vialetto-Van Laere syndrome-2 SCABD2 spinocerebellar ataxia with deafness and blindness 2
Location	8q24.3      Physical location : -
Synonym name	PERV-A receptor 1
	porcine endogenous retrovirus A receptor 1
	G protein-coupled receptor 172A
	putative G-protein coupled receptor GPCR41
	riboflavin transporter 3
Synonym symbol(s)	FLJ11856, PAR1, GPCR41, D15Ertd747e, GPCR, GPR172a, RFT3, RFVT2, hRFT3

DNA

TYPE	functioning gene
STRUCTURE	2.73 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_001253815 5 - 1806 NP_001240744 - 445 - - NM_024531 5 - 1900 NP_078807 - 445 - - NM_001253816 - - 1786 NP_001240745 - 445 - -

EXPRESSION

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 large intestine colon       salivary gland       highly Homo sapiens mRNA Endocrine pancreas         Homo sapiens Nervous brain       highly Homo sapiens mRNA Reproductive female system uterus cervix       female system breast mammary gland       male system testis     highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Endocrine islet cell (alpha,beta...) Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

10 putative membrane-spanning domains

HOMOLOGY

interspecies

homolog to murine Gpr172b (83.4pc)

Homologene

FAMILY

PERVR family

CATEGORY

receptor membrane G , transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	may be a receptor for porcine endogenous retrovirus subgroup A (PERV-A)
	may play an important role in brain riboflavin homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BVVLS2 , SCABD2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS