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Aliases for COMT Gene

Aliases for COMT Gene

  • Catechol-O-Methyltransferase 2 3 5
  • Epididymis Secretory Sperm Binding Protein Li 98n 3
  • Catechol-O-Methyltransferase Isoform 3
  • Testicular Tissue Protein Li 42 3
  • Catechol O-Methyltransferase 3
  • EC 2.1.1.6 4
  • 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 Schizophrenia and Panic Disorder 1. Among its related pathways are Biogenic Amine Synthesis and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and catechol O-methyltransferase activity. An important paralog of this gene is ENSG00000284844.

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

Additional gene information for COMT Gene

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

Genomics for COMT Gene

GeneHancer (GH) Regulatory Elements for COMT Gene

Promoters and enhancers for COMT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J019940 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 665 +1.1 1106 4.5 HNRNPUL1 PKNOX1 SMAD1 ARID4B FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZHX2 COMT TXNRD2 GC22M019943 DGCR8 TRMT2A LINC01311 LOC100420177 MED15 RPL7AP70 RPL8P5
GH22J019958 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.9 +19.9 19868 6.4 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 COMT GC22M019961 LINC01311 LOC100420177 TRMT2A UFD1 RPL7AP70 KLHL22 ENSG00000273343 ZNF74
GH22J019947 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.2 +9.1 9117 7.3 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 ZNF2 POLR2B COMT DGCR8 TRMT2A LOC100420177 LINC01311 ENSG00000273300 RPL8P5 MED15 RPL7AP70 ZDHHC8
GH22J019941 Enhancer 0.5 ENCODE dbSUPER 650.7 -1.2 -1200 0.1 ZNF362 TXNRD2 COMT PIR37139
GH22J019937 Enhancer 1 ENCODE dbSUPER 15.2 -3.5 -3463 1.3 ELF3 FOXA2 ARID4B RAD21 RARA ZNF614 CREM THAP11 MIXL1 RXRA COMT TRMT2A ESS2 RANBP1 ARVCF PIR37139 TXNRD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COMT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COMT gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2
  • PPAR-alpha
  • GR

Genomic Locations for COMT Gene

Genomic Locations for COMT Gene
chr22:19,941,607-19,969,975
(GRCh38/hg38)
Size:
28,369 bases
Orientation:
Plus strand
chr22:19,929,130-19,957,498
(GRCh37/hg19)
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

Post-translational modifications for COMT Gene

  • The N-terminus is blocked.
  • Ubiquitination at Lys259, posLast=212212, and posLast=179179
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COMT Gene

Domains & Families for COMT Gene

Gene Families for COMT Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

Function for COMT Gene

Molecular function for COMT Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol.
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

Enzyme Numbers (IUBMB) for COMT Gene

Phenotypes From GWAS Catalog for COMT Gene

Gene Ontology (GO) - Molecular Function for COMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0008168 methyltransferase activity TAS --
GO:0008171 O-methyltransferase activity TAS,IEA 1707278
GO:0016206 catechol O-methyltransferase activity 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:
  • Comt Comt<tm1Kara>
  • Comt Comt<tm1b(EUCOMM)Wtsi>
  • Comt Comt<tm1Mkae>
  • Comt Comt<tm1(COMT)Xzho>
  • Comt Comt<tm2(COMT)Xzho>

Animal Model Products

  • Taconic Biosciences Mouse Models for COMT

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COMT gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
mitochondrion 3
nucleus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,IBA --
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:0006584 catecholamine metabolic process IEA --
GO:0007565 female pregnancy IEA --
GO:0007612 learning IEA --
GO:0007614 short-term memory IEA --
GO:0008210 estrogen 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

(127) Drugs for COMT Gene - From: DrugBank, PharmGKB, ClinicalTrials, 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 54
Tolcapone Approved, Withdrawn Pharma inhibitor, Target COMT inhibitor, COMT inhibitor; also inhibits transthyretin aggregation 21
Dopamine Approved Pharma Full agonist, Agonist, Enzyme, substrate 4008
Morphine Approved, Investigational Pharma Full agonist, Agonist, Partial agonist 1100
Methyldopa Approved Pharma Enzyme, substrate 16

(315) Additional Compounds for COMT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-hydroxyestrone
  • 2,3-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 2-OHE1
  • Catecholestrone
  • 2-Hydroxyestrone, 4-(14)C-labeled
362-06-1
3-methoxytyramine
  • 3-Methoxy-4-hydroxyphenylethyl amine
  • 3-O-Methyldopamine
  • 4-(2-amino-Ethyl)-2-methoxy-phenol
  • 4-(2-Aminoethyl)-2-methoxy-phenol
  • 4-(2-Aminoethyl)-2-methoxyphenol
554-52-9
Homovanillic acid
  • (4-Hydroxy-3-methoxyphenyl)acetic acid
  • 3-Methoxy-4-hydroxyphenylacetate
  • 3-Methoxy-4-hydroxyphenylacetic acid
  • 4-Hydroxy-3-methoxybenzeneacetic acid
  • HVA
306-08-1
Metanephrine
  • (+/-)-metanephrine
  • 3-Methoxy-adrenaline
  • 3-Methoxyadrenaline
  • 3-O-Methyl-adrenaline
  • 3-O-Methylepinephrine
5001-33-2
Normetanephrine
  • (+/-)-normetanephrine
  • (+/-)-alpha-(aminomethyl)-4-hydroxy-3-methoxy-benzenemethanol
  • 3-Methoxy-noradrenaline
  • 3-O-Methyl-noradrenaline
  • 4-(2-amino-1-Hydroxyethyl)-2-methoxyphenol
97-31-4

(3) 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
Tolcapone COMT inhibitor; also inhibits transthyretin aggregation 134308-13-7
genes like me logo Genes that share compounds with COMT: view

Transcripts for COMT Gene

Unigene Clusters for COMT Gene

Catechol-O-methyltransferase:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for COMT Gene



Protein tissue co-expression partners for COMT Gene

NURSA nuclear receptor signaling pathways regulating expression of COMT Gene:

COMT

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.

Evidence on tissue expression from TISSUES for COMT Gene

  • Nervous system(5)
  • Skin(4.9)
  • Liver(4.6)
  • Muscle(4.5)
  • Eye(3.7)
  • Intestine(3.4)
  • Lung(3.3)
  • Pancreas(3.3)
  • Kidney(2.9)
  • Adrenal gland(2.8)
  • Blood(2.8)
  • Heart(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COMT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with COMT: view

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
chimpanzee
(Pan troglodytes)
Mammalia COMT 34 33
  • 99.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COMT 34 33
  • 83.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COMT 34 33
  • 80.81 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Comt 33
  • 79.81 (n)
mouse
(Mus musculus)
Mammalia Comt 16 34 33
  • 79.75 (n)
oppossum
(Monodelphis domestica)
Mammalia COMT 34
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COMT 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves COMT 34 33
  • 63.81 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia comt 33
  • 63.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15713 33
zebrafish
(Danio rerio)
Actinopterygii comta 34
  • 48 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC119.03 33
  • 51.53 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07919 33
  • 48.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for COMT was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COMT: view image

Paralogs for COMT Gene

Paralogs for COMT Gene

(1) SIMAP similar genes for COMT Gene using alignment to 13 proteins:

  • COMT_HUMAN
  • A3F6Y9_HUMAN
  • A3F7Q5_HUMAN
  • A3F7Q6_HUMAN
  • B8XPJ7_HUMAN
  • B8XPJ8_HUMAN
  • E7EMS6_HUMAN
  • E7EUU8_HUMAN
  • F2WW53_HUMAN
  • F2WW55_HUMAN
  • F8WBW9_HUMAN
  • H7BZ45_HUMAN
  • Q9BWC7_HUMAN
genes like me logo Genes that share paralogs with COMT: view

Variants for COMT Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for COMT Gene

COMT_HUMAN-P21964
Two alleles, COMT*1 or COMT*H with Val-158 and COMT*2 or COMT*L with Met-158 are responsible for a three to four-fold difference in enzymatic activity.
COMT_HUMAN-P21964
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 Variation AA Info Type
rs1060501404 uncertain-significance, Primary dilated cardiomyopathy 19,941,752(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs13306278 drug-response, Selective serotonin reuptake inhibitors response - Efficacy 19,941,504(+) C/T upstream_transcript_variant
rs370819229 likely-benign, uncertain-significance, not specified, Primary dilated cardiomyopathy 19,941,740(+) C/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs4680 benign, drug-response, CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM, nicotine response - Efficacy, not specified 19,963,748(+) G/A coding_sequence_variant, missense_variant
rs6267 risk-factor, Schizophrenia, susceptibility to 19,962,740(+) G/A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv72n68 CNV loss 17160897
dgv7983n54 CNV gain 21841781
esv1007918 CNV deletion 20482838
esv1009031 CNV deletion 20482838
esv1291604 CNV deletion 17803354
esv3568270 CNV loss 25503493
esv3568271 CNV loss 25503493
esv3575418 CNV gain 25503493
esv3584493 CNV gain 24956385
esv3647280 CNV gain 21293372
esv3893434 CNV gain 25118596
nsv1055752 CNV gain 25217958
nsv1064496 CNV gain 25217958
nsv1071776 CNV deletion 25765185
nsv1136656 CNV deletion 24896259
nsv469641 CNV loss 16826518
nsv517165 CNV loss 19592680
nsv588238 CNV loss 21841781
nsv588240 CNV loss 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv953026 CNV deletion 24416366

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)

Additional Variant Information for COMT Gene

Human Gene Mutation Database (HGMD)
COMT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COMT

SNP Genotyping and Copy Number Assay Products

Disorders for COMT Gene

MalaCards: The human disease database

(71) MalaCards diseases for COMT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
panic disorder 1
  • pand1
psychotic disorder
  • mental or behavioural disorder
schizotypal personality disorder
  • schizotypal personality
paranoid schizophrenia
  • chronic paranoid schizophrenia
- elite association - COSMIC cancer census association via MalaCards
Search COMT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COMT_HUMAN
  • Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269 PubMed:15645182}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Additional Disease Information for COMT

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

No data available for 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 SG … Song K (Human genetics 2005) 3 4 22 44 58
  2. Differential effects of COMT on gait and executive control in aging. (PMID: 18547681) Holtzer R … Verghese J (Neurobiology of aging 2010) 3 22 44 58
  3. Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. (PMID: 18980759) Su MT … Kuo PL (Fertility and sterility 2010) 3 22 44 58
  4. Acute antidepressant response to sleep deprivation combined with light therapy is influenced by the catechol-O-methyltransferase Val(108/158)Met polymorphism. (PMID: 19520435) Benedetti F … Colombo C (Journal of affective disorders 2010) 3 22 44 58
  5. Reduced 3-O-methyl-dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele. (PMID: 19676096) Delorme R … Launay JM (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 22 44 58

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Sources for COMT Gene