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Aliases for COMT Gene

Aliases for COMT Gene

  • Catechol-O-Methyltransferase 2 3 5
  • EC 2.1.1.6 4 63
  • Epididymis Secretory Sperm Binding Protein Li 98n 3
  • Catechol-O-Methyltransferase Isoform 3
  • Testicular Tissue Protein Li 42 3
  • HEL-S-98n 3

External Ids for COMT Gene

Previous GeneCards Identifiers for COMT Gene

  • GC22P016869
  • GC22P018303
  • GC22P019929
  • GC22P003549

Summaries for COMT Gene

Entrez Gene Summary for COMT Gene

  • 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]

GeneCards Summary for COMT Gene

COMT (Catechol-O-Methyltransferase) is a Protein Coding gene. Diseases associated with COMT include panic disorder and schizophrenia. Among its related pathways are Circadian entrainment and Metabolism. GO annotations related to this gene include magnesium ion binding and catechol O-methyltransferase activity. An important paralog of this gene is LRTOMT.

UniProtKB/Swiss-Prot for COMT Gene

  • Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol.

Tocris Summary for COMT Gene

  • Catechol O-Methyltransferase (COMT) (EC 2.1.1.6) catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to a catechol substrate, such as dopamine or levodopa, in the presence of magnesium (Mg2+) ions.

Gene Wiki entry for COMT Gene

PharmGKB "VIP" Summary for COMT Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for COMT Gene

Genomics for COMT Gene

Regulatory Elements for COMT Gene

Enhancers for COMT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COMT on UCSC Golden Path with GeneCards custom track

Promoters for COMT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COMT on UCSC Golden Path with GeneCards custom track

Genomic Location for COMT Gene

Chromosome:
22
Start:
19,941,607 bp from pter
End:
19,969,975 bp from pter
Size:
28,369 bases
Orientation:
Plus strand

Genomic View for COMT Gene

Genes around COMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMT Gene

Proteins for COMT Gene

  • Protein details for COMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21964-COMT_HUMAN
    Recommended name:
    Catechol O-methyltransferase
    Protein Accession:
    P21964
    Secondary Accessions:
    • A8MPV9
    • Q6IB07
    • Q6ICE6
    • Q9BWC7

    Protein attributes for COMT Gene

    Size:
    271 amino acids
    Molecular mass:
    30037 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH00419.2; Type=Erroneous termination; Positions=85; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=AAH05867.1; Type=Erroneous termination; Positions=85; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=ACI46037.1; Type=Erroneous termination; Positions=85; Note=Translated as Gln.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COMT Gene

    Alternative splice isoforms for COMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COMT Gene

Proteomics data for COMT Gene at MOPED

Selected DME Specific Peptides for COMT Gene

Post-translational modifications for COMT Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for COMT (COMT)

Domains & Families for COMT Gene

Protein Domains for COMT Gene

Graphical View of Domain Structure for InterPro Entry

P21964

UniProtKB/Swiss-Prot:

COMT_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family.
genes like me logo Genes that share domains with COMT: view

No data available for Gene Families for COMT Gene

Function for COMT Gene

Molecular function for COMT Gene

GENATLAS Biochemistry:
catechol-O-methyltransferase,with CAG repeat,degrading the catecholamine and inactivating catechol drugs in the central nervous system,putative minor contributor to schizophrenia susceptibility in a French series,but potential risk factor for homicidal behavior in schizophrenia and potential risk factor of high activity Val allele in attention deficit hyperactivity disorder
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol.
UniProtKB/Swiss-Prot Function:
Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol.

Enzyme Numbers (IUBMB) for COMT Gene

Gene Ontology (GO) - Molecular Function for COMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity TAS --
GO:0016206 catechol O-methyltransferase activity IEA,TAS --
genes like me logo Genes that share ontologies with COMT: view
genes like me logo Genes that share phenotypes with COMT: view

Human Phenotype Ontology for COMT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COMT Gene

MGI Knock Outs for COMT:

Animal Model Products

  • Taconic Biosciences Mouse Models for COMT

miRNA for COMT Gene

miRTarBase miRNAs that target COMT

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for COMT Gene

Localization for COMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMT Gene

Isoform Soluble: Cytoplasm.
Isoform Membrane-bound: Cell membrane; Single-pass type II membrane protein; Extracellular side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COMT Gene COMPARTMENTS Subcellular localization image for COMT gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
mitochondrion 3
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for COMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with COMT: view

Pathways & Interactions for COMT Gene

genes like me logo Genes that share pathways with COMT: view

Gene Ontology (GO) - Biological Process for COMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0007565 female pregnancy IEA --
GO:0007612 learning IEA --
GO:0007614 short-term memory IEA --
GO:0009712 catechol-containing compound metabolic process IEA --
genes like me logo Genes that share ontologies with COMT: view

No data available for SIGNOR curated interactions for COMT Gene

Drugs & Compounds for COMT Gene

(112) Drugs for COMT Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma inhibitor, Target, Enzyme COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 48
Tolcapone Approved, Withdrawn Pharma inhibitor, Target COMT inhibitor 16
Dopamine Approved Pharma Full agonist, Agonist, Enzyme, substrate 3636
S-Adenosylmethionine Approved Nutra Target, cofactor 0
Diethylstilbestrol Approved Pharma Agonist, Enzyme, substrate 5

(58) Additional Compounds for COMT Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-hydroxyestradiol
  • (17b)-Estra-1,3, 5(10)-triene-2,3,17-triol
  • (17beta)- Estra-1,3, 5 (10)-triene-2,3,17-triol
  • (17beta)-Estra-1,3,5(10)-triene-2,3,17-triol
  • 1,3,5(10)-Estratriene-2,3,17Beta-triol
  • 17beta-2-Hydroxyestradiol
362-05-0
2-hydroxyestrone
  • 2,3-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 2-Hydroxyestrone
  • 2-OHE1
  • Catecholestrone
362-06-1
3-methoxytyramine
  • 3-Methoxy-4-hydroxyphenylethyl amine
  • 3-Methoxytyramine
  • 3-O-Methyldopamine
  • 4-(2-Amino-ethyl)-2-methoxy-phenol
  • 4-(2-Aminoethyl)-2-methoxy-Phenol
554-52-9
Homovanillic acid
  • (4-Hydroxy-3-methoxyphenyl)acetate
  • (4-Hydroxy-3-methoxyphenyl)acetic acid
  • 3-Methoxy-4-hydroxy-phenylacetic acid
  • 3-Methoxy-4-hydroxyphenylacetate
  • 3-Methoxy-4-hydroxyphenylacetic acid
306-08-1
Metanephrine
  • (+/-)-Metanephrine
  • 3-Methoxy-adrenaline
  • 3-Methoxyadrenaline
  • 3-O-Methyl-Adrenaline
  • 3-O-Methylepinephrine
5001-33-2

(2) Tocris Compounds for COMT Gene

Compound Action Cas Number
Entacapone Potent COMT inhibitor; blocks alpha-synuclein aggregation 130929-57-6
OR-486 Catechol O-methyltransferase inhibitor 7659-29-2

(1) ApexBio Compounds for COMT Gene

Compound Action Cas Number
Tolcapone COMT inhibitor 134308-13-7
genes like me logo Genes that share compounds with COMT: view

Drug Products

Transcripts for COMT Gene

Unigene Clusters for COMT Gene

Catechol-O-methyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COMT Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - - - - - - - -
SP2: -
SP3: - -
SP4: - - -
SP5: -
SP6: -
SP7: - - - -
SP8: - - -

Relevant External Links for COMT Gene

GeneLoc Exon Structure for
COMT
ECgene alternative splicing isoforms for
COMT

Expression for COMT Gene

mRNA expression in normal human tissues for COMT Gene

Protein differential expression in normal tissues from HIPED for COMT Gene

This gene is overexpressed in Testis (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for COMT Gene



SOURCE GeneReport for Unigene cluster for COMT Gene Hs.370408

mRNA Expression by UniProt/SwissProt for COMT Gene

P21964-COMT_HUMAN
Tissue specificity: Brain, liver, placenta, lymphocytes and erythrocytes.
genes like me logo Genes that share expression patterns with COMT: view

Protein tissue co-expression partners for COMT Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for COMT Gene

Orthologs for COMT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for COMT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COMT 35
  • 80.81 (n)
  • 73.06 (a)
COMT 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COMT 35
  • 83.71 (n)
  • 80.54 (a)
COMT 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Comt 35
  • 79.75 (n)
  • 80.58 (a)
Comt 16
Comt 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COMT 35
  • 99.14 (n)
  • 99.26 (a)
COMT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Comt 35
  • 79.81 (n)
  • 79.25 (a)
oppossum
(Monodelphis domestica)
Mammalia COMT 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COMT 36
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMT 35
  • 63.81 (n)
  • 59.66 (a)
COMT 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia comt 35
  • 63.65 (n)
  • 59.73 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15713 35
zebrafish
(Danio rerio)
Actinopterygii comta 36
  • 48 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU07919 35
  • 48.17 (n)
  • 40.85 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC119.03 35
  • 51.53 (n)
  • 40.54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToOne
Species with no ortholog for COMT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COMT Gene

ENSEMBL:
Gene Tree for COMT (if available)
TreeFam:
Gene Tree for COMT (if available)

Paralogs for COMT Gene

Paralogs for COMT Gene

genes like me logo Genes that share paralogs with COMT: view

Variants for COMT Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for COMT Gene

P21964-COMT_HUMAN
Low enzyme activity alleles are associated with genetic susceptibility to alcoholism [MIM:103780].

Sequence variations from dbSNP and Humsavar for COMT Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_005139 -
VAR_013925 -
VAR_013926 -
VAR_020274 -
VAR_020275 -

Structural Variations from Database of Genomic Variants (DGV) for COMT Gene

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv914279 CNV Loss 21882294
nsv828938 CNV Gain 20364138
nsv828939 CNV Loss 20364138
nsv469641 CNV Loss 16826518
dgv72n68 CNV Loss 17160897
nsv914306 CNV Loss 21882294
nsv914307 CNV Loss 21882294
dgv4848n71 CNV Loss 21882294
dgv4849n71 CNV Loss 21882294
dgv4850n71 CNV Loss 21882294
esv2723991 CNV Deletion 23290073
esv1007918 CNV Deletion 20482838
esv1009031 CNV Deletion 20482838
esv1291604 CNV Deletion 17803354
dgv4851n71 CNV Loss 21882294
nsv517165 CNV Loss 19592680
dgv4852n71 CNV Loss 21882294

Variation tolerance for COMT Gene

Residual Variation Intolerance Score: 90.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.52; 85.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COMT Gene

HapMap Linkage Disequilibrium report
COMT
Human Gene Mutation Database (HGMD)
COMT

Disorders for COMT Gene

MalaCards: The human disease database

(67) MalaCards diseases for COMT Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search COMT in MalaCards View complete list of genes associated with diseases

Relevant External Links for COMT

Genetic Association Database (GAD)
COMT
Human Genome Epidemiology (HuGE) Navigator
COMT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COMT
genes like me logo Genes that share disorders with COMT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COMT Gene

Publications for COMT Gene

  1. Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans. (PMID: 15645182) Lee S.-G. … Song K. (Hum. Genet. 2005) 3 4 23 48 67
  2. Tolcapone improves cognition and cortical information processing in normal human subjects. (PMID: 17063156) Apud J.A. … Weinberger D.R. (Neuropsychopharmacology 2007) 3 23 25 26
  3. Kinetic interactions of dopamine and dobutamine with human catechol-O-methyltransferase and monoamine oxidase in vitro. (PMID: 11907189) Yan M. … Blumer J.L. (J. Pharmacol. Exp. Ther. 2002) 3 23 25 26
  4. Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia--relationship with COMT ValA^a8^a8,/A^a8/a8,Met polymorphism, gender and symptomatology. (PMID: 21447540) Boot E. … van Amelsvoort T. (J. Psychopharmacol. (Oxford) 2011) 3 25 26
  5. Association between polymorphisms in catechol-O-methyltransferase (COMT) and cocaine-induced paranoia in European-American and African-American populations. (PMID: 21656904) Ittiwut R. … Gelernter J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2011) 3 25 26

Products for COMT Gene

Sources for COMT Gene

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