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COMT Gene

protein-coding   GIFtS: 72

GC22P018303
catechol-O-methyltransferase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
EC 2.1.1.6 3
catechol-O-methyltransferase 2
External Ids
HGNC: 22281
Entrez Gene: 13122
UniProtKB: P219643
Ensembl: ENSG000000930107
Search outside databases for aliases for COMT gene

Previous GC identifer: GC22P016869

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for COMT:
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]

UniProtKB/Swiss-Prot: COMT_HUMAN, P21964
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

Gene Wiki entry for COMT (Catechol-O-methyl_transferase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the COMT gene  

Entrez Gene cytogenetic band: 22q11.21-q11.23|22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

COMT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P018303:     (about GC identifiers)

Start:
18,309,256 bp from pter
End:
18,336,539 bp from pter
Size:
27,284 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000022.9  NT_011519.10  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: COMT_HUMAN, P21964 (See protein sequence)
Recommended Name: Catechol O-methyltransferase  
Size: 271 amino acids; 30037 Da
Cofactor: Binds 1 magnesium ion per subunit
Subcellular location: Isoform Soluble: Cytoplasm
Subcellular location: Isoform Membrane-bound: Cell membrane; Single-pass type II membrane protein;
Extracellular side
Mass spectrometry: Mass=24352; Mass_error=2; Method=Electrospray; Range=52-271;
Source=PubMed:8020475;
PDB structure from and Proteopedia :
3BWM (3D)    3BWY (3D)    
Secondary accessions: Q6IB07 Q6ICE6
Alternative initiation: 2 isoforms:  P21964-1   P21964-2   

Post-translational modifications:

  • The N-terminus is blocked1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (4 alternative transcripts): 
    NP_000745.1  NP_001128633.1  NP_001128634.1  NP_009294.1  


    ENSEMBL proteins: 
    ENSP00000383966 ENSP00000385150 ENSP00000385917 ENSP00000384654 ENSP00000207636 ENSP00000385831 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (COMT)
    Human Recombinant Proteins from Abnova (COMT)
                  OriGene Purified Recombinant Human Protein: COMT 

    5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction TAS1707278
    GO:0005737 cytoplasm IEA--
    GO:0005792 microsome TAS1707278
    GO:0005829 cytosol EXP8968737
    GO:0005886 plasma membrane IEA--
    About this table

    Antibodies for COMT: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of COMT
    Sigma-Aldrich Antibodies for COMT
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (COMT), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (COMT)
    Novus Biologicals Antibodies for COMT

    Assays for COMT: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR017128 Catechol_O-MeTrfase_euk
     IPR002935 O-MeTrfase_3


       GeneDecks  COMT for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P21964

    ProtoNet protein and cluster: P21964

    1 Blocks protein family: IPB002935 O-methyltransferase

    UniProtKB/Swiss-Prot: COMT_HUMAN, P21964
    Similarity: Belongs to the mammalian catechol-O-methyltransferase family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (COMT)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (COMT)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001135162

                  Applied Biosystems Silencer® siRNAs for COMT

                  Sigma-Aldrich siRNA and siRNA Panels for COMT  
                         Sigma-Aldrich shRNA for COMT  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for COMT
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000754
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000754
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_000754 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000754

    UniProtKB/Swiss-Prot: COMT_HUMAN, P21964
    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
    Catalytic activity: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol
    Enzyme Number (IUBMB): EC 2.1.1.6 

    Genatlas biochemistry entry for COMT:
    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

    2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Comt1):

    behavior/neurologicalnervous system

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287 magnesium ion binding IEA--
    GO:0005515 protein binding IPI15231747
    GO:0016206 catechol O-methyltransferase activity IEA--
    GO:0016740 transferase activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    2 Invitrogen iPath™ Online BioAtlas - Pathways for COMT (Maps provided by GeneGo):
     Androgens and estrogen metabolism, part II
     Tyrosine metabolism

       GeneDecks  COMT for the pathways selected above  
    About GeneDecksing

    3 Millipore Pathways for COMT
     Estradiol metabolism
     Tyrosine metabolism p.1 (dopamine)
     Estrone metabolism

       GeneDecks  COMT for the pathways selected above  
    About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  COMT  (Your Favorite Gene powered by Ingenuity) 
     Tyrosine Metabolism
     Dopamine Receptor Signaling

       GeneDecks  COMT for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for COMT):
     hsa00350 Tyrosine metabolism

       GeneDecks  COMT for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  COMT 


    5/77 Interacting proteins for COMT (P219641, 2 ENSP000002076363) via UniProtKB, MINT, and/or STRING (see all 77 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRN2Q9H0D61EBI-372265, EBI-372110
    LITAFQ997322MINT-65288
    TRIP13Q156452MINT-66331
    MAOAENSP000003406843STRING (score=.991)
    DRD2ENSP000003474743STRING (score=.985)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006584 catecholamine metabolic process IEA--
    GO:0042135 neurotransmitter catabolic process IEA--
    GO:0042420 dopamine catabolic process IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for COMT
    Sigma-Aldrich Small Molecules for COMT:
    Inhibitor

    Compounds for COMT available from Tocris Bioscience
    CompoundAction CAS number
    OR-486Catechol-O-methyl transferase inhibitor[7659-29-2]
    About this table


    10/44 Novoseek chemical compound relationships for COMT gene (see all 44 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-o-methyldopa 91.33 33 8527287 (3), 9333106 (2), 11290879 (2), 9808337 (1) (see all 20)
    or486 81.00 9 15507517 (2), 11882582 (2), 18486144 (1), 17560937 (1) (see all 7)
    5-hydroxyconiferyl alcohol 78.60 1 11423146 (1)
    4-hydroxyestradiol 76.38 7 11706521 (1), 19020775 (1), 19077667 (1), 15100171 (1) (see all 6)
    2-hydroxyestradiol 73.33 8 11701460 (2), 11706521 (1), 19020775 (1), 11882582 (1) (see all 7)
    stalevo 68.54 1 18975095 (1)
    catecholamine 68.21 68 11502905 (4), 12959293 (3), 7874370 (2), 8612391 (2) (see all 51)
    3-methoxytyramine 66.56 8 7834959 (1), 15354384 (1), 8283823 (1), 9661138 (1) (see all 5)
    s-adenosylmethionine 64.56 42 11577006 (3), 10755376 (2), 11520127 (2), 2128841 (2) (see all 22)
    homovanillic acid 61.93 14 12741370 (3), 9147493 (2), 9477008 (1), 12957500 (1) (see all 7)
    About this table

    8 PharmGKB drug compound relationships for COMT gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    3,4-methylenedioxymethamphetaminePK  15228154
    folic acidPD  GN  14656021
    levodopaPK  12898345
    methyldopaPD  PK  7398195
    modafinilPD  11990384
    sparteineCO  11773866
    vitamin b12PD  GN  14656021
    xenobioticsCO  PD  9259381
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (COMT)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (COMT)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001135162

                  Sigma-Aldrich siRNA and siRNA Panels for COMT  
                         Sigma-Aldrich shRNA for COMT  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000754  NM_001135161  NM_001135162  NM_007310  

    REFSEQ mRNAs for COMT gene (4 alternative transcripts): 

    NM_000754.3   NM_001135161.1   NM_001135162.1   NM_007310.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000754  NM_001135161  NM_001135162  NM_007310  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000754
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000754
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_000754 

    Additional cDNA sequence: 

    AK092664.1 AL390148.1 BC005092.1 BC036893.1 BC137436.1 CR590273.1 CR623754.1 EF217321.1 
    EF217322.1 M65213.1 U51269.1 U84509.1 

    24/45 DOTS entries (see all 45 ):

    DT.100053173  DT.91707484  DT.100720599  DT.91985741  DT.100668744  DT.100824734  DT.100668740  DT.445233 
    DT.91827051  DT.100824740  DT.100778546  DT.87024869  DT.92067937  DT.92473588  DT.91893551  DT.70102245 
    DT.100738288  DT.95279862  DT.97769223  DT.100027592  DT.91812748  DT.97860453  DT.120644670  DT.120644691 

    24/855 AceView cDNA sequences (see all 855 ):

    CA842397 CR603785 CR610886 BF724444 AW768435 CF528521 CR625831 Z41079 
    AA447648 BG056774 AU279590 BQ682461 NM_007310 BX338317 BQ073544 BE349135 
    CR613786 BQ448204 BE385974 CR624969 BG054676 BF724613 F02815 CR610047 

    highest scoring ESTs for COMT:

    M58525 AA025282 AA092663 AA093705 AA093720 AA131404 AA131504 AA303869 AA341286 AA357690 

    Unigene Clusters for COMT:

    Catechol-O-methyltransferase
    Hs.370408  [show with all ESTs], Hs.704514  [show with all ESTs], Hs.713616  [show with all ESTs]
    Unigene Representative Sequences: NM_000754, BX449536, NM_001670


    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for COMT (see all 8 )

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

    About this scheme

    ECgene alternative splicing isoforms for COMT

    6 Ensembl transcripts including schematic representations:
    ENST00000403184  ENST00000406520  ENST00000403710  ENST00000407537  ENST00000207636  ENST00000402871  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    COMT expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for COMT

    1 / 2 / 3

    8 probe-sets matching COMT gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    34651_at2, 3 U95-A 1 1.00 1.00 0.36 1.16 M58525 1.00 1.00 1.00 1
    68511_at*2, 3 U95-E 1 0.50 1.00 0.48 0.85 AI380389 0.20 1.00 0.72 1

    213981_at2, 3 U133-A 1 1.00 1.00 -- -- BG054676 0.80 1.00 0.91 1

    208818_s_at2, 3 U133-A 1 1.00 1.00 -- -- BC000419 0.80 1.00 0.91 1

    208817_at2, 3 U133-A 1 1.00 1.00 -- -- BC000419 0.80 1.00 0.91 1

    213981_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    208818_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    208817_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  COMT for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene clusters: Hs.370408 Hs.704514 Hs.713616

    Expression variation in blood from EXPOLDB for COMT

    UniProtKB/Swiss-Prot: COMT_HUMAN, P21964
    Tissue specificity: Brain, liver, placenta, lymphocytes and erythrocytes

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for COMT gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    COMT1   -- catechol-O-methyltransferase 83.71(n)
    80.54(a)
    445450  NM_001004074.1  NP_001004074.1 
    chimpanzee
    (Pan troglodytes)
    COMT1   -- catechol-O-methyltransferase 99.14(n)
    99.26(a)
    458655  XM_514984.2  XP_514984.2 
    cow
    (Bos taurus)
    COMT1   -- catechol-O-methyltransferase 80.93(n)
    73.43(a)
    618278  XM_870610.2  XP_875703.2 
    rat
    (Rattus norvegicus)
    Comt1   -- catechol-O-methyltransferase 78.81(n)
    79.46(a)
    24267  NM_012531.1  NP_036663.1 
    mouse
    (Mus musculus)
    Comt11, 5 16 (11.20 cM)5
    catechol-O-methyltransferase 11, 5 78.85(n)1
    80(a)1
    128461  NM_007744.21  NP_031770.11 
     AA4076435  AA6371575  (see all 18)
    About this table        Species with no ortholog for COMT

    ENSEMBL Gene Tree for COMT
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    UniProtKB/Swiss-Prot: COMT_HUMAN, P21964
    Polymorphism: 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
    Polymorphism: Low enzyme activity alleles are associated with genetic susceptibility to alcoholism
    [MIM:103780]


    10/314 NCBI SNPs in COMT are shown (see all 314 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 132)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 22 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7393681,2
    A,C,F,H,O18319096(-) ACCCTC/TGGATG 2 -- ut51 int19Minor allele frequency- T:0.04NA MN EU EA WA 826
    rs46463121,2
    A,C,F,H18328337(+) TAAACT/CAGCCC 2 -- int1 ng5128Minor allele frequency- C:0.30NS EU EA WA NA MN CSAM 2656
    rs46801,2
    A,C,F,H18331271(+) CTGGCA/GTGAAG 4 V/M mis133Minor allele frequency- N:0.00NA EA MN CSAM EU NS WA 4462
    rs62691,2
    A,C,F,O18329952(+) TCTGCA/GAACAC 2 -- ng51 int16Minor allele frequency- G:0.42MN NA EA 672
    rs1656561,2
    A,C,F,H18328863(+) ATTCCG/CGCCCG 2 -- ng51 int113Minor allele frequency- C:0.34EA NS MN CSAM 2836
    rs38105951,2
    A,C,F18329644(-) GTAGTC/GACGGG 2 -- int1 ng516Minor allele frequency- G:0.33NS MN CSAM EA 530
    rs93323801,2
    C,F,H18336417(+) GAACTG/ACAACA 4 -- ut31 ese311Minor allele frequency- A:0.01NS EU EA WA MN CSAM 1116
    rs62701,2
    C,F,H18330150(+) CCTGTG/CCCTTA 4 S/C mis1 ut51 ese311Minor allele frequency- C:0.04MN CSAM EA EU WA 1076
    --
    rs115697151,2
    C,F,H18328742(+) TGCTGC/GCGAGC 4 -- ut51 ng51 ese310Minor allele frequency- G:0.01MN CSAM EA EU WA 1064
    rs1655991,2
    A,C,F18336781(+) CTGCCA/GGCCTG 4 -- ut31 ese31Minor allele frequency- G:0.46EA 180
    About this table

    HapMap Linkage Disequilibrium images for COMT (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 116790   disorders: 181500  167870  

    10/90 Novoseek disease relationships for COMT gene (see all 90 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease 82.73 157 9808337 (3), 10895397 (3), 15495118 (3), 11170218 (2) (see all 99)
    schizophrenia 79.61 444 17412710 (8), 12802784 (6), 19329282 (6), 16109444 (6) (see all 99)
    velo-cardio-facial syndrome 76.18 9 10490696 (1), 15645182 (1), 8950408 (1), 16511839 (1) (see all 9)
    attention-deficit hyperactivity disorder 66.12 16 19228412 (2), 17075359 (2), 10898901 (1), 17949513 (1) (see all 14)
    velocardiofacial syndrome 65.98 9 10450274 (2), 12192614 (1), 15505638 (1), 12802784 (1) (see all 7)
    bipolar disorder 63.67 49 15211633 (4), 17948281 (3), 9330018 (2), 8988970 (2) (see all 29)
    polysubstance abuse 58.70 1 11054766 (1)
    obsessive-compulsive disorder 55.95 14 11840516 (2), 17264842 (2), 10331110 (1), 12900951 (1) (see all 12)
    schizotypal personality 50.97 2 17034018 (1), 17604122 (1)
    psychiatric disorder 50.73 38 17419009 (4), 16780746 (2), 15572182 (2), 17949513 (2) (see all 27)
    About this table

    6 PharmGKB disease relationships for COMT gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Breast NeoplasmsCO  11773866
    HyperhomocysteinemiaPD  GN  14656021
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    NarcolepsyPD  11990384
    Parkinson DiseasePD  PK  FA  GN  7398195 12898345 14966473
    Substance-Related DisordersCO  PD  9259381
    About this table

    Human Gene Mutation Database: COMT
    Genetic Association Database: COMT
    Human Genome Epidemiology Navigator: COMT (636 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/1149 PubMed articles for COMT gene (see all 1149 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 1312 HGNC: 2228 AceView: COMT Ensembl:ENSG00000093010 euGenes: HUgn1312
    ECgene: COMT H-InvDB: COMT
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for COMT Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/comt/
    Wikipedia http://en.wikipedia.org/wiki/Catechol-O-methyl_transferase
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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