• Gene id: 1312

Gene Summary

• Gene Symbol: COMT   Gene   UCSC   Ensembl
• Aliases: HEL-S-98n
• Gene name: catechol-O-methyltransferase
• Alternate names: catechol O-methyltransferase, catechol-O-methyltransferase isoform, epididymis secretory sperm binding protein Li 98n, testicular tissue protein Li 42,
• Gene location: 22q11.21 (19941739: 19969974)     Exons: 10     NC_000022.11
• Gene summary(Entrez): Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathwa
• OMIM: 116790

SNPs

rs4680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

Protein Summary

• Protein general information: P21964  
  • Name: Catechol O methyltransferase (EC 2.1.1.6)
  • Length: 271  
  • Mass: 30,037
• Sequence:

  MPEAPPLLLAAVLLGLVLLVVLLLLLRHWGWGLCLIGWNEFILQPIHNLLMGDTKEQRILNHVLQHAEPGNAQSV
  LEAIDTYCEQKEWAMNVGDKKGKIVDAVIQEHQPSVLLELGAYCGYSAVRMARLLSPGARLITIEINPDCAAITQ
  RMVDFAGVKDKVTLVVGASQDIIPQLKKKYDVDTLDMVFLDHWKDRYLPDTLLLEECGLLRKGTVLLADNVICPG
  APDFLAHVRGSSCFECTHYQSFLEYREVVDGLEKAIYKGPGSEAGP

• Structural information:
  • Interpro: IPR017128  IPR002935  IPR029063  
  • Prosite: PS51682
  • PDB: 3A7E 3BWM 3BWY 4PYI 4PYJ 4PYK 4XUC 4XUD 4XUE 5LSA
  • PDBsum: 3A7E 3BWM 3BWY 4PYI 4PYJ 4PYK 4XUC 4XUD 4XUE 5LSA
  • STRING: ENSP00000354511
• Other Databases: GeneCards:  COMT  Malacards:  COMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007565	female pregnancy	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0007614	short-term memory	IEA	biological process
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0008171	O-methyltransferase activity	TAS	molecular function
GO:0008210	estrogen metabolic process	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016036	cellular response to phosphate starvation	IEA	biological process
GO:0016206	catechol O-methyltransferase activity	TAS	molecular function
GO:0030424	axon	IEA	cellular component
GO:0032259	methylation	TAS	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032502	developmental process	IEA	biological process
GO:0035814	negative regulation of renal sodium excretion	IEA	biological process
GO:0042135	neurotransmitter catabolic process	IEA	biological process
GO:0042420	dopamine catabolic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045963	negative regulation of dopamine metabolic process	IEA	biological process
GO:0048265	response to pain	IEA	biological process
GO:0048609	multicellular organismal reproductive process	IEA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IEA	biological process
GO:0050668	positive regulation of homocysteine metabolic process	IEA	biological process
GO:0051930	regulation of sensory perception of pain	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006584	catecholamine metabolic process	IEA	biological process
GO:0006584	catecholamine metabolic process	IEA	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0007614	short-term memory	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0008171	O-methyltransferase activity	IEA	molecular function
GO:0008171	O-methyltransferase activity	TAS	molecular function
GO:0008210	estrogen metabolic process	IEA	biological process
GO:0009712	catechol-containing compound metabolic process	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016036	cellular response to phosphate starvation	IEA	biological process
GO:0016206	catechol O-methyltransferase activity	IEA	molecular function
GO:0016206	catechol O-methyltransferase activity	IEA	molecular function
GO:0016206	catechol O-methyltransferase activity	IEA	molecular function
GO:0016206	catechol O-methyltransferase activity	TAS	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0032259	methylation	IEA	biological process
GO:0032259	methylation	TAS	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032502	developmental process	IEA	biological process
GO:0035814	negative regulation of renal sodium excretion	IEA	biological process
GO:0042135	neurotransmitter catabolic process	IEA	biological process
GO:0042135	neurotransmitter catabolic process	IEA	biological process
GO:0042417	dopamine metabolic process	IEA	biological process
GO:0042420	dopamine catabolic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045963	negative regulation of dopamine metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048265	response to pain	IEA	biological process
GO:0048609	multicellular organismal reproductive process	IEA	biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	IEA	biological process
GO:0050668	positive regulation of homocysteine metabolic process	IEA	biological process
GO:0051930	regulation of sensory perception of pain	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0008171	O-methyltransferase activity	TAS	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0016206	catechol O-methyltransferase activity	TAS	molecular function
GO:0032259	methylation	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04728	Dopaminergic synapse

Diseases

Associated diseases	References
Cancer	GAD: 11142424
Cancer (Adenocarcinoma)	GAD: 17682677
Cancer (bladder)	GAD: 14729580
Cancer (breast)	GAD: 14520706
Cancer (cervical)	GAD: 12971967
Leiomyomatosis	GAD: 18390078
Cancer (colorectal)	GAD: 16006997
Cancer (endometrial)	GAD: 14656940
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 19339270
Cancer (Hepatocellular)	GAD: 19064581
Cancer (leiomyoma)	GAD: 18752908
Cancer (liver)	GAD: 15341023
Cancer (lung)	GAD: 18593984
Cancer (lymphoma)	GAD: 18636124
Cancer (Medullary)	GAD: 17909067
Cancer (ovarian)	GAD: 12036914
Cancer (prostate)	GAD: 16569655
Cancer (Renal cell)	GAD: 17220335
Cancer (stomach)	GAD: 19015200
Cancer (testicular)	GAD: 19776291
Cancer (uterine leiomyoma)	GAD: 16595228
Atherosclerosis	GAD: 18545092
Hypertension	GAD: 17143180
Cardiovascular disease	GAD: 8886163
Cerebral infarction	GAD: 17016617
Venous thrombosis	GAD: 18064318
Hyperhomocysteinemia	GAD: 14656021
Gout	GAD: 19915868
Bronchial hyperreactivity	GAD: 19476811
Multiple sclerosis	GAD: 16564429
Crohn's disease	GAD: 19167252
Obesity	GAD: 16674552
Amyloidosis	GAD: 18760272
Obesity	GAD: 18442637
Diabetes	GAD: 19690620
Bone diseases	GAD: 19453261
Memory disorders	GAD: 18339359
Tardive dyskinesia	GAD: 15261699
Sleep disorders	GAD: 19726643
Migraine disorder	GAD: 19772578
Mental retardation	GAD: 18615479
Neuralgia	GAD: 15862471
Tourette syndrome	GAD: 11166081
Dyslexia	GAD: 17931436
Subarachnoid hemorrhage	GAD: 21116946
Alzheimer's disease	GAD: 18387741
Brain injuries	GAD: 16387984
Parkinson disease	GAD: 9121699
Chronic fatigue syndrome	GAD: 16610957
Attention deficit hyperactivity disorder (ADHD)	GAD: 12627475
Anorexia nervosa	GAD: 11317231
Anxiety disorder	GAD: 15450911
Attention deficit hyperactivity disorder (ADHD)	GAD: 15717291
Autism	GAD: 19058789
Bipolar disorder	GAD: 16969276
Bulimia	GAD: 19447357
Major depressive disorder	GAD: 19593178
Mood disorders	GAD: 11992560
Panic disorder	GAD: 18663369
Mental disorder	GAD: 18615479
Neuroticism	GAD: 12815746
Psychological disorders	GAD: 20398908
Schizophrenia	GAD: 12402217
Psychological disorders	GAD: 16582043
Obsessive compulsive disorder	GAD: 10331110
Bipolar disorder	GAD: 18571901
Cognitive function	GAD: 16712949
Depression	GAD: 16356553
Eating disorders	GAD: 16969275
Kidney diseases	GAD: 19406978
Chronic renal failure	GAD: 21085059
Adenomyosis	GAD: 16527884
Human spermatogenic defect	GAD: 18980759
Preeclampsia	GAD: 20729792
Spermatogenesis defects	GAD: 18980759
Premenstrual dysphoric disorder	GAD: 17599809
Endometriosis	INFBASE: 16527884
Premature ovarian insufficiency (POI)	INFBASE: 24808926
Polycystic ovary syndrome (PCOS)	INFBASE: 22178088
Male factor infertility	MIK: 18980759
Oligozoospermia	MIK: 18980759
Spermatogenesis defects	MIK: 18980759
DiGeorge syndrome	GAD: 18769474
Endometriosis	GAD: 16260521
Endometriosis-associated infertility	INFBASE: 21495799
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Vitiligo	GAD: 21085187
Alexithymia	GAD: 16127282
Allergy	GAD: 16127282
Arthralgia	GAD: 19180497
Fibromyalgia hyperalgesia	GAD: 19464960
Juvenile endogenous attack-like psychoses	GAD: 18379473
Velocardiofacial syndrome	GAD: 8886163
Genital diseases	GAD: 19799358
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Oligozoospermia	MIK: 18980759
Azoospermia	MIK: 18980759
Impaired spermatogenesis	MIK: 18980759
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18980759	Oligozoospermia, azoospermia, impaired spermatogenesis	(rs180113 of ER-alpha gene, rs1256049 of ER-beta gene, rs1048943 of CYP1A1 gene, rs8191246 of HSD17B2 gene, and rs1799941 along with rs6259 of SHBG gene	Taiwane se Han	303 (183 oligozoospermatic (sperm count <20 x 10(6)/mL) or azoospermatic males, 120 fertile control males)	Male infertility	ER-alpha ER-beta CYP17 CYP19A1 HSD17B2 CYP1A1 CYP1B1 COMT SHBG
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R