Gene Report

Basic Info

Approved Symbol	COMT
Approved Name	catechol-O-methyltransferase
Location	22q11.21
Position	chr22:19941607-19969975, 1
External Links	HGNC: 2228 Entrez Gene: 1312 Ensembl: ENSG00000093010 UCSC: uc002zqu.3
No. of Association Results	21 (Positive: 9; Negative: 12; trend: 0)
Annotation Type	Literature-origin, Mapped by Literature SNP, Mapped by LD-proxy

Gene related association results

Normal genetic study related association results (count: 21)

Reference	Phenotype	Marker	Gene's Category
Winkler, E. A.,2017	PTSD diagnosis	rs4680	Significant
Hayes, J. P.,2017	CAPS score	rs4680	Non-significant
van Rooij, S. J.,2016	PTSD symptom severity	rs4680	Non-significant
van Rooij, S. J.,2016	PTSD intrusive symptoms	rs4680	Non-significant
van Rooij, S. J.,2016	PTSD avoidance/numbing symptoms	rs4680	Non-significant
van Rooij, S. J.,2016	PTSD hyperarousal symptoms	rs4680	Non-significant
Goenjian, A. K.,2014	B category score	rs4633 ; rs4680 ; rs4818 ; rs6269	Non-significant
Goenjian, A. K.,2014	C category score	rs4633 ; rs4680 ; rs4818 ; rs6269	Significant
Valente, N. L.,2011	CAPS scores	rs4680	Significant
Goenjian, A. K.,2014	D category score	rs4633 ; rs4680 ; rs4818 ; rs6269	Significant
Wolf, E. J.,2014	Dissociative symptom severity	rs9306235	Non-significant
Kolassa, I. T.,2010	Lifetime PTSD	rs4680	Non-significant
Nievergelt, C. M.,2015	PTSD	rs174686	Significant
Valente, N. L.,2011	PTSD	rs4680	Significant
Humphreys, K. L.,2014	PTSD category D symptom	rs4680	Significant
Solovieff, N.,2014	PTSD diagnosis	rs165774	Non-significant
Humphreys, K. L.,2014	PTSD diagnosis	rs4680	Non-significant
Solovieff, N.,2014	PTSD severity	rs165774	Non-significant
Clark, R.,2013	PTSD symptoms (combined scores for severity and frequency)	rs4680	Non-significant
Goenjian, A. K.,2014	Total PTSD symptom severity score	rs4633 ; rs4680 ; rs4818 ; rs6269	Significant
Humphreys, K. L.,2014	Total PTSD symptoms	rs4680	Significant

G*E study related association result (count: 1)

Reference	Phenotype	Environment	Marker	Gene's Category
Kolassa, I. T.,2010	Probability of developing lifetime PTSD	Traumatic load	rs4680 ; rs174686	Significant

Gene functional annotation

Gene related GO terms (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in PTSDgene
GO:0043197	dendritic spine	cellular component	IEA	9
GO:0030424	axon	cellular component	IEA	16
GO:0051930	regulation of sensory perception of pain	biological process	IEA	5
GO:0007614	short-term memory	biological process	IEA	2
GO:0006805	xenobiotic metabolic process	biological process	TAS	9
GO:0008171	O-methyltransferase activity	molecular function	TAS[1707278]	1
GO:0045211	postsynaptic membrane	cellular component	IEA	21
GO:0070062	extracellular exosome	cellular component	IDA[19056867\|23376485\|23533145]	58
GO:0044281	small molecule metabolic process	biological process	TAS	38
GO:0042420	dopamine catabolic process	biological process	IEA	5
GO:0016206	catechol O-methyltransferase activity	molecular function	IEA	1
GO:0007268	synaptic transmission	biological process	TAS	32
GO:0044297	cell body	cellular component	IEA	5
GO:0016021	integral component of membrane	cellular component	IEA	56
GO:0048265	response to pain	biological process	IEA	4
GO:0042135	neurotransmitter catabolic process	biological process	IEA	2
GO:0016020	membrane	cellular component	IDA[19946888]	42
GO:0042493	response to drug	biological process	IEA	25
GO:0032496	response to lipopolysaccharide	biological process	IEA	9
GO:0045963	negative regulation of dopamine metabolic process	biological process	IEA	1
GO:0032259	methylation	biological process	TAS	3
GO:0007565	female pregnancy	biological process	IEA	9
GO:0005829	cytosol	cellular component	TAS	78
GO:0005515	protein binding	molecular function	IPI[16189514\|19060904\|25416956]	169
GO:0008210	estrogen metabolic process	biological process	IEA	2
GO:0048662	negative regulation of smooth muscle cell proliferation	biological process	IEA	2
GO:0035814	negative regulation of renal sodium excretion	biological process	IEA	1
GO:0000287	magnesium ion binding	molecular function	IEA	6
GO:0005739	mitochondrion	cellular component	IEA	29
GO:0042136	neurotransmitter biosynthetic process	biological process	TAS	5
GO:0048609	multicellular organismal reproductive process	biological process	IEA	2
GO:0016036	cellular response to phosphate starvation	biological process	IEA	1
GO:0007612	learning	biological process	IEA	5
GO:0014070	response to organic cyclic compound	biological process	IEA	3
GO:0032502	developmental process	biological process	IEA	2
GO:0005886	plasma membrane	cellular component	TAS	99
GO:0050668	positive regulation of homocysteine metabolic process	biological process	IEA	1

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in PTSDgene
hsa00350	Tyrosine metabolism	5

Gene related interactors from protein-protein interactions data in PINA v2 (count: 9)

Gene	Interactor	Interactor in PTSDgene?	Experiment Method	Interaction Type	PMID
COMT	TRIP13	No	--	--	19060904 , 16189514 , 16189514 , 16189514 , 16189514
COMT	LITAF	No	--	--	16169070 , 16169070 , 16169070 , 16169070
COMT	VCP	No	--	--	23383273
COMT	RNF2	No	--	--	24457600
COMT	XRN2	No	--	--	15231747 , 15231747 , 15231747
COMT	FBXO6	No	--	--	22268729
COMT	RGS2	Yes	--	--	21900206 , 21900206 , 21900206
COMT	VKORC1	No	--	--	21103663
COMT	MCC	No	--	--	17353931