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MECR Gene

protein-coding   GIFtS: 62
GCID: GC01M029519

Mitochondrial Trans-2-Enoyl-CoA Reductase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrial Trans-2-Enoyl-CoA Reductase1 2     Homolog Of Yeast 2-Enoyl Thioester Reductase2
Mitochondrial 2-Enoyl Thioester Reductase1 2     Trans-2-Enoyl-CoA Reductase, Mitochondrial2
Nuclear Receptor Binding Factor 11 2     HsNrbf-13
EC 1.3.1.383 8     NBRF13
NRBF12 5     NRBF-13
CGI-632     Nuclear Receptor-Binding Factor 13
FASN2B2     

External Ids:    HGNC: 196911   Entrez Gene: 511022   Ensembl: ENSG000001163537   OMIM: 6082055   UniProtKB: Q9BV793   

Export aliases for MECR gene to outside databases

Previous GC identifers: GC01M029341 GC01M029391 GC01M027771


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MECR Gene:
MECR (mitochondrial trans-2-enoyl-CoA reductase) is a protein-coding gene. Diseases associated with MECR include complex partial epilepsy, and blepharospasm. GO annotations related to this gene include trans-2-enoyl-CoA reductase (NADPH) activity.

UniProtKB/Swiss-Prot: MECR_HUMAN, Q9BV79
Function: Oxidoreductase with a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA
(C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16). May play a role in mitochondrial fatty acid
synthesis

Gene Wiki entry for MECR Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MECR gene promoter:
         AhR   PPAR-gamma1   NF-1   PPAR-gamma2   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMECR promoter sequence
   Search Chromatin IP Primers for MECR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MECR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p35.3   Ensembl cytogenetic band:  1p35.3   HGNC cytogenetic band: 1p35.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M029519:  view genomic region     (about GC identifiers)

Start:
29,519,385 bp from pter      End:
29,557,454 bp from pter
Size:
38,070 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MECR_HUMAN, Q9BV79 (See protein sequence)
Recommended Name: Trans-2-enoyl-CoA reductase, mitochondrial precursor  
Size: 373 amino acids; 40462 Da
Subunit: Homodimer
Sequence caution: Sequence=AAD34058.1; Type=Frameshift; Positions=14, 19;
2 PDB 3D structures from and Proteopedia for MECR:
1ZSY (3D)        2VCY (3D)    
Secondary accessions: B3KT72 Q5SYU0 Q5SYU1 Q5SYU2 Q6IBU9 Q9Y373
Alternative splicing: 2 isoforms:  Q9BV79-1   Q9BV79-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MECR: NX_Q9BV79

Explore proteomics data for MECR at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for MECR (Q9BV79)
     PAVGGNE  PINPSDIN  GLGTWRTEAVF  SAATLGVNPCTAYRML 


    See MECR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001019903.2  NP_057095.3  

    ENSEMBL proteins: 
     ENSP00000362896   ENSP00000263702   ENSP00000436831  

    MECR Human Recombinant Protein Products:

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    Novus Biologicals MECR Proteins
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    MECR Antibody Products:

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    MECR Assay Products:

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    Cloud-Clone Corp. CLIAs for MECR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR013149 ADH_C
     IPR011032 GroES-like
     IPR013154 ADH_GroES-like
     IPR002085 ADH_SF_Zn-type
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9BV79

    ProtoNet protein and cluster: Q9BV79

    1 Blocks protein domain: IPB013154 Alcohol dehydrogenase GroES-like

    UniProtKB/Swiss-Prot: MECR_HUMAN, Q9BV79
    Similarity: Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily


    MECR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MECR_HUMAN, Q9BV79
    Function: Oxidoreductase with a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA
    (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16). May play a role in mitochondrial fatty acid
    synthesis
    Catalytic activity: Acyl-CoA + NADP(+) = trans-2,3-dehydroacyl-CoA + NADPH
    Biophysicochemical properties: Kinetic parameters: KM=37 uM for trans-2-hexenoyl-CoA (PubMed:12654921); KM=7.1 uM
    for trans-2-decenoyl-CoA (PubMed:12654921); KM=3.6 uM for trans-dodec-2-enoyl-CoA (PubMed:18479707); KM=10.4 uM
    for trans-dec-2-enoyl-CoA (PubMed:18479707); KM=10.2 uM for trans-oct-2-enoyl-CoA (PubMed:18479707); KM=4.3 uM
    for trans-tetradec-2-enoyl-CoA (PubMed:18479707); KM=6.6 uM for trans-hexadec-2-enoyl-CoA (PubMed:18479707);
    KM=63.5 uM for trans-hex-2-enoyl-CoA (PubMed:18479707);

         Enzyme Number (IUBMB): EC 1.3.1.381 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
    GO:0019166trans-2-enoyl-CoA reductase (NADPH) activity IDA12654921
         
    MECR for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MECR:
     Decreased circadian period len  Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mecr):
     mortality/aging 

    MECR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MECR
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MECR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MECR

    miRNA
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    miRTarBase miRNAs that target MECR:
    hsa-mir-1 (MIRT023488), hsa-let-7f-1-3p (MIRT038990), hsa-mir-155-5p (MIRT020488), hsa-mir-331-3p (MIRT043378)

    Block miRNA regulation of human, mouse, rat MECR using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate MECR:
    hsa-miR-4271 hsa-miR-323-5p hsa-miR-589
    SwitchGear 3'UTR luciferase reporter plasmidMECR 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MECR

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): MECR (NM_015365)
    Sino Biological Human cDNA Clone for MECR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MECR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MECR

    Cell Line
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MECR_HUMAN, Q9BV79: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--

    MECR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MECR About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fatty acid metabolism
    Fatty acid metabolism0.42
    2Metabolism
    Metabolic pathways0.38
    3Biosynthesis of unsaturated fatty acids
    Fatty acid elongation0.38
    4Fatty Acid Biosynthesis
    Fatty Acid Biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MECR
        Fatty Acid Biosynthesis



    3 Kegg Pathways  (Kegg details for MECR):
        Fatty acid elongation
    Metabolic pathways
    Fatty acid metabolism


    MECR for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MECR
    Interactions:

        Search GeneGlobe Interaction Network for MECR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MECR (Q9BV793 ENSP000002637024) via UniProtKB, MINT, STRING, and/or I2D (see all 99)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RARAP102763, ENSP000002540664I2D: score=2 STRING: ENSP00000254066
    UBA52P629873, ENSP000003881074I2D: score=2 STRING: ENSP00000388107
    RXRAP197933, ENSP000004196924I2D: score=1 STRING: ENSP00000419692
    THRBP108283, ENSP000003488274I2D: score=1 STRING: ENSP00000348827
    PPARAQ078693, ENSP000002627354I2D: score=1 STRING: ENSP00000262735
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process IDA12654921
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0055114oxidation-reduction process ----

    MECR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MECR

    Selected HMDB Compounds for MECR (see all 41)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----

    1 Novoseek inferred chemical compound relationship for MECR gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    progesterone 52.5 5 1892850 (2), 8089199 (1), 1815590 (1), 2021645 (1)



    MECR for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MECR gene (2 alternative transcripts): 
    NM_001024732.2  NM_016011.3  

    Unigene Cluster for MECR:

    Mitochondrial trans-2-enoyl-CoA reductase
    Hs.183646  [show with all ESTs]
    Unigene Representative Sequence: NM_001024732
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373791(uc001brp.1 uc001brq.1 uc001brt.1) ENST00000475773
    ENST00000483435 ENST00000263702(uc010ofz.1) ENST00000473030 ENST00000463412
    ENST00000453185 ENST00000478505 ENST00000490529 ENST00000464511 ENST00000463052
    ENST00000489248 ENST00000475861 ENST00000474946 ENST00000464915 ENST00000482610
    ENST00000484012 ENST00000493928
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate MECR:
    hsa-miR-4271 hsa-miR-323-5p hsa-miR-589
    SwitchGear 3'UTR luciferase reporter plasmidMECR 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): MECR (NM_015365)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MECR
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat MECR
      QuantiFast Probe-based Assays in human, mouse, rat MECR

    Additional mRNA sequence: 

    AF151821.1 AK025830.1 AK095099.1 AK225687.1 AK226084.1 AK300889.1 AK315274.1 BC001419.2 
    CR456703.1 

    18 DOTS entries:

    DT.452328  DT.91763770  DT.100798959  DT.91763769  DT.91763771  DT.100798955  DT.95174118  DT.100798958 
    DT.100798953  DT.431671  DT.91763774  DT.95174117  DT.100798961  DT.121404917  DT.121404940  DT.99927194 
    DT.100798960  DT.91839251 

    Selected AceView cDNA sequences (see all 182):

    CB306099 BM673423 AA962664 BM665899 CR626137 BM981418 AU099187 BM673220 
    BI856447 BU735019 AA463768 CR616740 CR604427 BM849428 BM696368 R47992 
    AI354426 BG677456 CR624586 AA393872 AA449215 BM762641 BM762525 AI609046 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MECR (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^
    SP1:                                      -     -     -     -     -     -     -     -     -     -     -     -                                                   
    SP2:                                      -     -     -     -     -     -     -     -     -     -     -                                                         
    SP3:                                      -     -     -     -     -     -     -     -                 -     -                                                   
    SP4:                                      -     -     -     -                 -     -                       -                                                   
    SP5:                                      -     -     -     -     -     -     -     -     -     -     -     -                                   -               

    ExUns: 14 ^ 15a · 15b ^ 16a · 16b · 16c
    SP1:        -                           
    SP2:        -                           
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for MECR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MECR expression in normal human tissues (normalized intensities)      MECR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGGGGAGG
    MECR Expression
    About this image


    MECR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    MECR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MECR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.183646

    UniProtKB/Swiss-Prot: MECR_HUMAN, Q9BV79
    Tissue specificity: Highly expressed in skeletal and heart muscle. Expressed at lower level in placenta, liver,
    kidney and pancreas. Weakly or not expressed in lung

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MECR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MECR gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mecr1 , 5 mitochondrial trans-2-enoyl-CoA reductase1, 5 82.66(n)1
    82.04(a)1
      4 (64.52 cM)5
    269221  NM_025297.21  NP_079573.21 
     1318434705 
    chicken
    (Gallus gallus)
    Aves MECR1 mitochondrial trans-2-enoyl-CoA reductase 67.34(n)
    66.33(a)
      419601  XM_417748.4  XP_417748.4 
    lizard
    (Anolis carolinensis)
    Reptilia MECR6
    mitochondrial trans-2-enoyl-CoA reductase
    64(a)
    1 ↔ 1
    GL343563.1(6059-13383)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.115272 Xenopus laevis transcribed sequence with weak similarity more 72.93(n)    CD253647.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.175832 Transcribed sequence with weak similarity to protein more 74.57(n)    CF995956.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG169351 CG16935 55.93(n)
    50.77(a)
      36540  NM_137070.2  NP_610914.2 
    worm
    (Caenorhabditis elegans)
    Secernentea mecr-11 mecr-1 50.66(n)
    46.79(a)
      174963  NM_064399.3  NP_496800.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ETR1(YBR026C)4
    ETR11
    2-enoyl thioester reductase, member of the medium chain more4
    ETR11
    44.33(n)1
    38.94(a)1
      2(294019-292877)4
    8523141, 4  NP_009582.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G457701 AT3G45770 53.09(n)
    46.81(a)
      823720  NM_114446.3  NP_566881.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g01025001 Os11g0102500 53.57(n)
    52.86(a)
      9272332  NM_001189367.1  NP_001176296.1 


    ENSEMBL Gene Tree for MECR (if available)
    TreeFam Gene Tree for MECR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MECR (see all 779)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1438538851,2
    C--29518948(+) CCCCTA/GTGTGT 2 -- ds50010--------
    rs1403004101,2
    --29519017(+) TCAATC/TTTGCA 2 -- ds50010--------
    rs1826526831,2
    --29519018(+) CAATCC/TTGCAC 2 -- ds50010--------
    rs1873404181,2
    --29519095(+) AGGCAA/CTCAAT 2 -- ds50010--------
    rs1926468231,2
    --29519255(+) AAAGCC/TCACTC 2 -- ds50010--------
    rs1427237701,2
    --29519271(+) TGAGAA/GCCCAC 2 -- ds50010--------
    rs1844890101,2
    --29519302(+) AAGCAC/TACCCC 2 -- ds50010--------
    rs2013594281,2
    C--29519426(+) ATCAAC/TGNNNN 2 -- ut310--------
    rs1474290631,2
    --29519430(+) ACGACC/GTCATG 2 -- ut310--------
    rs1398037191,2
    C--29519440(+) GAACAC/TTGAAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for MECR (29519385 - 29557454 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MECR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv871249CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MECR
    DNA2.0 Custom Variant and Variant Library Synthesis for MECR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608205    OMIM disorders: --

    8 diseases for MECR:    About MalaCards
    complex partial epilepsy    blepharospasm    tonsillitis    malaria
    cerebritis    thyroiditis    endotheliitis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for MECR:
    Blepharospasm

    MECR for disorders           About GeneDecksing

    Genetic Association Database (GAD): MECR
    Human Genome Epidemiology (HuGE) Navigator: MECR (1 document)

    Export disorders for MECR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for MECR gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with MECR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of 2-enoyl thioester reductase from mammals: an ortholog of Ybr026p/Mrf1'p of the yeast mitochondrial fatty acid synthesis type II. (PubMed id 12654921)1, 2, 3, 9 Miinalainen I.J.... Hiltunen J.K. (J. Biol. Chem. 2003)
    2. Structural enzymological studies of 2-enoyl thioester reductase of the human mitochondrial FAS II pathway: new insights into its substrate recognition properties. (PubMed id 18479707)1, 2, 9 Chen Z.J....Haapalainen A.M. (J. Mol. Biol. 2008)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.-H.... Lin W.-C. (Genome Res. 2000)
    8. Nuclear receptor binding factor-1 (NRBF-1), a protein interacting with a wide spectrum of nuclear hormone receptors. (PubMed id 9795230)1, 3 Masuda N....Osumi T. (Gene 1998)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. The mitochondrial fatty acid synthesis (mtFASII) pathway is capable of mediating nuclear-mitochondrial cross talk through the PPAR system of transcriptional activation. (PubMed id 24161390)1 Parl A....Murdock D.G. (Biochem. Biophys. Res. Commun. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 51102 HGNC: 19691 AceView: CGI-63 Ensembl:ENSG00000116353 euGenes: HUgn51102
    ECgene: MECR Kegg: 51102 H-InvDB: MECR

    (According to HUGE)
    About This Section

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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MECR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MECR gene:
    Search GeneIP for patents involving MECR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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