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FLASH GENE

Symbol

CYP4V2

contributors: shn - updated : 27-06-2010

HGNC name	cytochrome P450, family 4, subfamily V, polypeptide 2
HGNC id	23198

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BCD Bietti crystalline corneo-retinal dystrophy, retinal dystrophy
Location	4q35.1      Physical location : 187.112.673 - 187.134.616
Synonym name	cytochrome P450 4V2
Synonym symbol(s)	BCD, CYP4AH1, FLJ18432, MGC43534
EC.number	1.14.-.-

DNA

TYPE	functioning gene
STRUCTURE	21.94 kb     11 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D4S1540 - D4S2924 - CYP4V2 - D4S3332 - D4S3051- qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_207352 11 - 4713 NP_997235 - 525 - -

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       highly Digestive liver       highly Endocrine pancreas       highly Nervous brain       highly Reproductive female system placenta     moderately Respiratory lung       highly Urinary kidney       highly Visual eye palpebra     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)   highly Muscular striatum skeletal   moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a globular structural domain

secondary structure

18 helices and beta structural segments

HOMOLOGY

interspecies	ortholog to cyp4v2, Danio rerio
	ortholog to LOC744981, Pan troglodytes

Homologene

FAMILY

cytochrome P450 hemethiolate protein superfamily

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	may be involved in electron transport
	a role in fatty acid and steroid metabolism
	involved in oxidizing various substrates in the metabolic pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

lipid/lipoprotein

signaling

sensory transduction/vision

fatty acid and steroid metabolism

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Fe2+
	heme

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BCD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS