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FLASH GENE

Symbol

CYP2D6

contributors: mct/npt - updated : 01-07-2008

HGNC name	cytochrome P450, family 2, subfamily D, polypeptide 6
HGNC id	2625

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	4.00 kb     9 Exon(s)

text structure

see CYP2@

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 1673 - 497 - Halling (2008) variant 2 - - 1520 55.7 446 - Halling (2008)

EXPRESSION

Type	restricted

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 liver       highly Lymphoid/Immune spleen         Reproductive female system breast mammary gland       male system testis

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ER targeting domain
	a proline-rich domain as well as the putative protein kinase A (PKA) and protein kinase C (PKC)-specific phosphorylation sites

conjugated

HemoP

mono polymer

monomer

HOMOLOGY

Homologene

FAMILY	cytochrome P450 subfamily IID
	multigenic cytochrome P450 superfamily of mixed-function monooxygenases

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome
text	mitochondrial in liver (Sangar 2010)

basic FUNCTION	monooxygenase
	metabolizing antiarrythmics (sparteine and propafenone), amitryptiline, debrisoquine, catalyzing the demethylation of 7 ethoxy-coumarin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport , detoxification

text	oxidative metabolism

PATHWAY

metabolism

drug

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADPH
	heme

protein

flavoprotein P450 oxidoreductase (POR)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CYP2D6DM

related resource

Human Cytochrome P450 (CYP) Allele Nomenclature Committee

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function reduced CYP2D6 activity was a negative risk factor for methamphetamine dependence (Otani 2008)

Susceptibility

to poor metabolizer phenotype (debrisoquine, sparteine) to acute lymphoid and myeloid leukemia

Variant & Polymorphism other	certain alleles result in the poor metabolizer phenotype
	"null" variants increasing the risk of acute lymphoid and myeloid leukemia

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS