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FLASH GENE

Symbol

NDUFV2

contributors: mct - updated : 01-03-2011

HGNC name	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
HGNC id	7717

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NDUFV2 hypertrophic cardiomyopathy with encephalopathy
Location	18p11.22      Physical location : 9.102.627 - 9.134.342
Synonym symbol(s)	UOR2
EC.number	1.6.5.3

DNA

TYPE	functioning gene
STRUCTURE	31.72 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021074 8 - 937 - 249 - 1995 7488192

EXPRESSION

Type

widely

constitutive of

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 Reproductive female system uterus cervix   highly   male system prostate     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

carrying a binuclear iron-sulfure cluster

HOMOLOGY

Homologene

FAMILY

complex1, 24 kda subunit family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	NADH ubiquinone dehydrogenase (Q reductase), involved in transfer of electrons from NADH to the respiratory chain
	part of a large multisubunit assembly of the mitochondrial inner membrane that channels high-energy electrons from metabolic NADH into the electron transport chain (ETC)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NDUFV2

related resource

MITOP database

Susceptibility

to Parkinson disease to bipolar disorder

Variant & Polymorphism SNP	rs6506640 (-342G > A) and rs906807 (86C > T) was found to be associated with bipolar disorder

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS