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FLASH GENE

Symbol

COMT

contributors: mct/npt/pgu - updated : 05-04-2013

HGNC name	catechol-O-methyltransferase
HGNC id	2228

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCZD4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     hemizygous deletion in 22q11 microdeletion syndromes (velocardiofacial syndrome [VCFS] or DiGeorge syndrome [DGS])

Susceptibility

potential risk factor for homicidal behavior in schizophrenia to schizophrenia in a French series and bipolar disorders to obesity to cisplatin-induced hearing loss in children

Variant & Polymorphism SNP , other	Val158Met involved in risk for schizophrenia and bipolar disorders
	The COMT Ex4-76C > G (L136L) polymorphism appears to play a role in large increases in BMI
	variant rs9332377, associated to cisplatin-induced hearing loss in children
	val158met polymorphism in the COMT gene contributes significantly to inter-individual differences in neural pain processing: in healthy people

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous pain   inhibition of COMT via serotonin binding contributes to pain hypersensitivity, providing additional strategies for the treatment of clinical pain conditions neurology     promising target for modulation of cognitive functions and dysfunctions

ANIMAL & CELL MODELS

	pregnant mice deficient in catechol-O-methyltransferase (COMT) show a pre-eclampsia-like phenotype resulting from an absence of 2-methoxyoestradiol (2-ME), a natural metabolite of oestradiol that is elevated during the third trimester of normal human pregnancy