Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1312
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]
OMIM 116790

SNPs

 rs4680

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000684.2   g.19963748G>A
NC_000022.10   g.19951271G>A
NC_000022.11   g.19963748G>A
NG_011526.1   g.27009G>A
NM_000754.3   c.472G>A
NM_001135161.1   c.472G>A
NM_001135162.1   c.472G>A
NM_007310.2   c.322G>A
NP_000745.1   p.Val158Met
NP_001128633.1   p.Val158Met
NP_001128634.1   p.Val158Met
NP_009294.1   p.Val108Met
NR_039918.1   n.-5G>A
XP_005261286.1   p.Val158Met
XP_011528188.1   p.Val196Met
XP_016884083.1   p.Val158Met
XP_016884084.1   p.Val158Met
Clinical Significance: drug-response

rs6267

Strand:    Allele origin: G(germline)/T(germline)  Allele change: A/G/T   Mutation type: snp

CM000684.2   g.19962740G>A
CM000684.2   g.19962740G>T
NC_000022.10   g.19950263G>A
NC_000022.10   g.19950263G>T
NC_000022.11   g.19962740G>A
NC_000022.11   g.19962740G>T
NG_011526.1   g.26001G>A
NG_011526.1   g.26001G>T
NM_000754.3   c.214G>A
NM_000754.3   c.214G>T
NM_001135161.1   c.214G>A
NM_001135161.1   c.214G>T
NM_001135162.1   c.214G>A
NM_001135162.1   c.214G>T
NM_007310.2   c.64G>A
NM_007310.2   c.64G>T
NP_000745.1   p.Ala72Ser
NP_000745.1   p.Ala72Thr
NP_001128633.1   p.Ala72Ser
NP_001128633.1   p.Ala72Thr
NP_001128634.1   p.Ala72Ser
NP_001128634.1   p.Ala72Thr
NP_009294.1   p.Ala22Ser
NP_009294.1   p.Ala22Thr
NR_039918.1   n.-1013G>A
NR_039918.1   n.-1013G>T
XP_005261286.1   p.Ala72Ser
XP_005261286.1   p.Ala72Thr
XP_011528188.1   p.Ala110Ser
XP_011528188.1   p.Ala110Thr
XP_016884083.1   p.Ala72Ser
XP_016884083.1   p.Ala72Thr
XP_016884084.1   p.Ala72Ser
XP_016884084.1   p.Ala72Thr
Clinical Significance: other

Protein Summary
Protein general information P21964  

Name: Catechol O methyltransferase (EC 2.1.1.6)

Length: 271  Mass: 30,037

Tissue specificity: Brain, liver, placenta, lymphocytes and erythrocytes.

Sequence MPEAPPLLLAAVLLGLVLLVVLLLLLRHWGWGLCLIGWNEFILQPIHNLLMGDTKEQRILNHVLQHAEPGNAQSV
LEAIDTYCEQKEWAMNVGDKKGKIVDAVIQEHQPSVLLELGAYCGYSAVRMARLLSPGARLITIEINPDCAAITQ
RMVDFAGVKDKVTLVVGASQDIIPQLKKKYDVDTLDMVFLDHWKDRYLPDTLLLEECGLLRKGTVLLADNVICPG
APDFLAHVRGSSCFECTHYQSFLEYREVVDGLEKAIYKGPGSEAGP
Structural information
Interpro:  IPR017128 IPR002935 IPR029063
Prosite:   PS51682

Pfam:  		 PF01596

PDB:  		 3A7E 3BWM 3BWY 4PYI 4PYJ 4PYK 4XUC 4XUD 4XUE 5LSA
PDBsum:   3A7E 3BWM 3BWY 4PYI 4PYJ 4PYK 4XUC 4XUD 4XUE 5LSA
MINT:   4529967
STRING:   ENSP00000354511;
Other Databases GeneCards:  COMT;MIR4761;  Malacards:  COMT

Gene ontology


GO accessionTerm nameEvidence codeGo 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 activit
y
 TAS molecular_function
GO:0008168 methyltransferase activit
y
 TAS molecular_function
GO:0008171 O-methyltransferase activ
ity
 TAS molecular_function
GO:0008210 estrogen metabolic proces
s
 IEA biological_process
GO:0014070 response to organic cycli
c compound
 IEA biological_process
GO:0016020 membrane
 IDA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016036 cellular response to phos
phate starvation
 IEA biological_process
GO:0016206 catechol O-methyltransfer
ase activity
 TAS molecular_function
GO:0030424 axon
 IEA cellular_component
GO:0032259 methylation
 TAS biological_process
GO:0032496 response to lipopolysacch
aride
 IEA biological_process
GO:0032502 developmental process
 IEA biological_process
GO:0035814 negative regulation of re
nal sodium excretion
 IEA biological_process
GO:0042135 neurotransmitter cataboli
c process
 IEA biological_process
GO:0042420 dopamine catabolic proces
s
 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 do
pamine 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 sm
ooth muscle cell prolifer
ation
 IEA biological_process
GO:0050668 positive regulation of ho
mocysteine metabolic proc
ess
 IEA biological_process
GO:0051930 regulation of sensory per
ception 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 p
rocess
 IEA biological_process
GO:0006584 catecholamine metabolic p
rocess
 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 activit
y
 IEA molecular_function
GO:0008168 methyltransferase activit
y
 TAS molecular_function
GO:0008168 methyltransferase activit
y
 TAS molecular_function
GO:0008171 O-methyltransferase activ
ity
 IEA molecular_function
GO:0008171 O-methyltransferase activ
ity
 TAS molecular_function
GO:0008210 estrogen metabolic proces
s
 IEA biological_process
GO:0009712 catechol-containing compo
und metabolic process
 IEA biological_process
GO:0014070 response to organic cycli
c 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 mem
brane
 IEA cellular_component
GO:0016036 cellular response to phos
phate starvation
 IEA biological_process
GO:0016206 catechol O-methyltransfer
ase activity
 IEA molecular_function
GO:0016206 catechol O-methyltransfer
ase activity
 IEA molecular_function
GO:0016206 catechol O-methyltransfer
ase activity
 IEA molecular_function
GO:0016206 catechol O-methyltransfer
ase 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 lipopolysacch
aride
 IEA biological_process
GO:0032502 developmental process
 IEA biological_process
GO:0035814 negative regulation of re
nal sodium excretion
 IEA biological_process
GO:0042135 neurotransmitter cataboli
c process
 IEA biological_process
GO:0042135 neurotransmitter cataboli
c process
 IEA biological_process
GO:0042417 dopamine metabolic proces
s
 IEA biological_process
GO:0042420 dopamine catabolic proces
s
 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 do
pamine 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 sm
ooth muscle cell prolifer
ation
 IEA biological_process
GO:0050668 positive regulation of ho
mocysteine metabolic proc
ess
 IEA biological_process
GO:0051930 regulation of sensory per
ception 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 activit
y
 TAS molecular_function
GO:0008168 methyltransferase activit
y
 TAS molecular_function
GO:0008171 O-methyltransferase activ
ity
 TAS molecular_function
GO:0016020 membrane
 IDA cellular_component
GO:0016206 catechol O-methyltransfer
ase 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

hsa01100  Metabolic pathways
PTHR43836:SF3  Adrenaline and noradrenaline biosynthesis
hsa00140  Steroid hormone biosynthesis
hsa04728  Dopaminergic synapse
hsa00350  Tyrosine metabolism
PTHR43836:SF3  Dopamine receptor mediated signaling pathway

Diseases

Associated diseases References
Adenomyosis PMID: 24965973
Alexithymia PMID: 16127282
Alzheimer's disease PMID: 15591802
Amyloid neuropathies PMID: 18760272
Anorexia nervosa PMID: 11317231
Anxiety disorder PMID: 9754693
Arthralgia PMID: 19180497
Atherosclerosis PMID: 8886163
Attention-deficit hyperactivity disorder (ADHD) PMID: 12627475
Autism PMID: 19058789
Azoospermia PMID: 18980759
Bipolar disorder PMID: 9702745
Bronchial hyperresponsiveness PMID: 19476811
Bulimia PMID: 19447357
Cancer PMID: 11142424
Chronic fatigue syndrome PMID: 16610957
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Crohn's disease PMID: 19167252
Depression PMID: 16356553
Diabetes PMID: 19690620
DiGeorge syndrome PMID: 18769474
Eating disorders PMID: 16969275
Endometrial cancer PMID: 12810635
Endometriosis PMID: 21495799
Fibromyalgia PMID: 19464960
Genital diseases PMID: 19799358
Gout PMID: 19915868
Hallucinations PMID: 18808401
Headache PMID: 16930369
Human spermatogenic defect PMID: 18980759
Hyperhomocysteinemia PMID: 14656021
Juvenile endogenous attack-like psychoses PMID: 18379473
Kidney disease PMID: 19406978
Major depressive disorder PMID: 19593178
Memory disorders PMID: 18339359
Mental retardation PMID: 18615479
Migraine disorders PMID: 19772578
Mood disorders PMID: 18828035
Neuroticism PMID: 12815746
Obesity PMID: 16674552
Obsessive compulsive disorder PMID: 10331110, KEGG: H01450
Oligozoospermia PMID: 18980759
Panic disorder PMID: 11772685
Panic disorder PMID: 18440204
Parkinson's disease PMID: 9121699
Polycystic ovary syndrome (PCOS) PMID: 22342814
Premature ovarian insufficiency (POI) PMID: 24808926
Premenstrual dysphoric disorder PMID: 17599809
Psychiatric disorders PMID: 16582043
Schizophrenia PMID: 12402217
Adenomyosis INFBASE24965973
Endometriosis associated infertility INFBASE21495799
Endometriosis INFBASE21495799
Tardive dyskinesia PMID: 15261699
Tourette syndrome PMID: 11166081
Vitiligo PMID: 19112571

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24965973 Endometrio
sis
 COMT 158G/A, CYP1B1 432C/G Asian,
Caucasi
an
 3827 (1770 case
s, 2057 control
s)
 COMT
CYP1B1
 Show abstract
21495799 Endometrio
sis
 COMT val/met polymorphism (rs4680) Brazili
an
 239 (71 inferti
le women withou
t endometriosis
, and 168 ferti
le women as con
trol group)
 Female infertility
Show abstract