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MECR (mitochondrial trans-2-enoyl-CoA reductase)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51102
Gene nameGene Name - the full gene name approved by the HGNC.
Mitochondrial trans-2-enoyl-CoA reductase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MECR
SynonymsGene synonyms aliases
CGI-63, DYTOABG, ETR1, FASN2B, NRBF1, OPA16
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p35.3
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs145192716 G>A Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs756421370 ->A Pathogenic, likely-pathogenic Splice donor variant, non coding transcript variant
rs759218713 T>C Pathogenic, likely-pathogenic Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs762913101 C>T Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs1057519286 A>C,G Likely-pathogenic, pathogenic Missense variant, coding sequence variant, synonymous variant, stop gained, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT020488 hsa-miR-155-5p Proteomics 18668040
MIRT023488 hsa-miR-1-3p Proteomics 18668040
MIRT043378 hsa-miR-331-3p CLASH 23622248
MIRT038990 hsa-let-7f-1-3p CLASH 23622248
MIRT1140198 hsa-miR-1224-3p CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 12654921
GO:0005759 Component Mitochondrial matrix TAS
GO:0006631 Process Fatty acid metabolic process IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BV79
Protein name Enoyl-[acyl-carrier-protein] reductase, mitochondrial (EC 1.3.1.104) (2-enoyl thioester reductase) (Nuclear receptor-binding factor 1) (HsNrbf-1) (NRBF-1)
Protein function Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but t
PDB 1ZSY , 2VCY , 7AYB , 7AYC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08240 ADH_N
70 → 141
Alcohol dehydrogenase GroES-like domain
 Domain
PF00107 ADH_zinc_N
195 → 332
Zinc-binding dehydrogenase
 Family
Sequence 
MWVCSTLWRVRTPARQWRGLLPASGCHGPAASSYSASAEPARVRALVYGHHGDPAKVVEL
KNLELAAVRGSDVRVKMLAAPINPSDINMIQGNYGFLPELPAVGGNEGVAQVVAVGSNVT
GLKPGDWVIPANAGLGTWRTEAVFSEEALIQVPSDIPLQSAATLGVNPCTAYRMLMDFEQ
LQPGDSVIQNASNSGVGQAVIQIAAALGLRTINVVRDRPDIQKLSDRLKSLGAEHVITEE
ELRRPEMKNFFKDMPQPRLALNCVGGKSSTELLRQLARGGTMVTYGGMAKQPVVASVSLL
IFKDLKLRGFWLSQWKKDHSPDQFKELILTLCDLIRRGQLTAPACSQVPLQDYQSALEAS
MKPFISSKQILTM
Sequence length 373
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Fatty acid biosynthesis
Fatty acid elongation
Metabolic pathways
Fatty acid metabolism 		  Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cerebral palsy Cerebral Palsy rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Developmental delay Global developmental delay, Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Dystonia Childhood Onset Dystonias rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440, rs2140073990, rs104894441, rs104894444, rs80356532, rs80356533, rs80356535, rs80356536, rs80356537, rs267606670, rs104893665, rs121917747, rs121909739, rs80359818, rs387907176, rs387907177, rs387907281, rs387907282, rs398122887, rs387907312, rs587776922, rs1565132917, rs587776923, rs1277790116, rs398122924, rs398122925, rs398122926, rs398122927, rs398122928, rs587776983, rs397515577, rs587777428, rs587777771, rs397515382, rs606231443, rs606231442, rs606231441, rs549006436, rs606231439, rs606231437, rs606231435, rs606231434, rs557052809, rs606231432, rs542652468, rs786205675, rs775863165, rs767517186, rs139260335, rs796053263, rs796053254, rs767399782, rs864309572, rs869320661, rs779204655, rs879253875, rs886039379, rs1555865401, rs587777468, rs886041396, rs1057518117, rs782175860, rs1057518953, rs113371321, rs1057518942, rs1057519278, rs1057519279, rs1057519280, rs1057519281, rs1057519282, rs1057519283, rs1057519284, rs988395114, rs1060500993, rs1064795234, rs1064797245, rs1064797344, rs1131691345, rs1131691307, rs749414480, rs1555358507, rs1555727493, rs1555362835, rs1555859571, rs763183959, rs1555859157, rs1555731819, rs879255368, rs1555731976, rs1554599616, rs1554599983, rs1554599712, rs1555360050, rs760768475, rs1566687487, rs1568379151, rs1563644456, rs1563646198, rs1563644810, rs1568853466, rs1573882268, rs1252185897, rs1586456404, rs1590612392, rs1590658782, rs1599706613, rs1599715341, rs1599719130, rs1590168246, rs1590169710, rs1599689373, rs1599712456, rs1599712523, rs1599719534, rs1586457084, rs1478393931, rs748888652, rs1599679995, rs1599680351, rs1459799356, rs1599687853, rs1599706511, rs1599725621, rs1586459408, rs1596050386, rs1599676503, rs1566687244, rs1586457060, rs1599665134, rs1599668553, rs1670619549, rs1802674870, rs1802756440, rs2075090666, rs1969024891, rs1802672249, rs2039866854
Dystonia with optic atrophy and basal ganglia abnormalities DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES rs762913101, rs1057519286, rs759218713, rs1057519287, rs756421370, rs1574315873 27817865
Unknown
Disease name Disease term dbSNP ID References
Craniofacial dystonia Craniofacial dystonia
Dysarthria Dysarthria
Dyskinetic syndrome Dyskinetic syndrome
Dysphagia Deglutition Disorders

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