Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51102
Gene name	Mitochondrial trans-2-enoyl-CoA reductase
Gene symbol	MECR
Synonyms (NCBI Gene)	CGI-63DYTOABGETR1FASN2BNRBF1OPA16
Chromosome	1
Chromosome location	1p35.3
Summary	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]

Show/Hide all (7)

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
rs1057519287	TGAT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1574315873	C>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant, non coding transcript variant

156

Show/Hide all (156)

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
MIRT1140199	hsa-miR-1245b-5p	CLIP-seq
MIRT1140200	hsa-miR-1253	CLIP-seq
MIRT1140201	hsa-miR-125a-3p	CLIP-seq
MIRT1140202	hsa-miR-1260	CLIP-seq
MIRT1140203	hsa-miR-1260b	CLIP-seq
MIRT1140204	hsa-miR-1280	CLIP-seq
MIRT1140205	hsa-miR-146a	CLIP-seq
MIRT1140206	hsa-miR-146b-5p	CLIP-seq
MIRT1140207	hsa-miR-1914	CLIP-seq
MIRT1140208	hsa-miR-3142	CLIP-seq
MIRT1140209	hsa-miR-3189-3p	CLIP-seq
MIRT1140210	hsa-miR-3202	CLIP-seq
MIRT1140211	hsa-miR-320e	CLIP-seq
MIRT1140212	hsa-miR-330-3p	CLIP-seq
MIRT1140213	hsa-miR-3657	CLIP-seq
MIRT1140214	hsa-miR-3689a-5p	CLIP-seq
MIRT1140215	hsa-miR-3689b	CLIP-seq
MIRT1140216	hsa-miR-3689e	CLIP-seq
MIRT1140217	hsa-miR-3689f	CLIP-seq
MIRT1140218	hsa-miR-3934	CLIP-seq
MIRT1140219	hsa-miR-4251	CLIP-seq
MIRT1140220	hsa-miR-4324	CLIP-seq
MIRT1140221	hsa-miR-4494	CLIP-seq
MIRT1140222	hsa-miR-4533	CLIP-seq
MIRT1140223	hsa-miR-4650-5p	CLIP-seq
MIRT1140224	hsa-miR-4669	CLIP-seq
MIRT1140225	hsa-miR-4676-5p	CLIP-seq
MIRT1140226	hsa-miR-4679	CLIP-seq
MIRT1140227	hsa-miR-4714-3p	CLIP-seq
MIRT1140228	hsa-miR-4740-3p	CLIP-seq
MIRT1140229	hsa-miR-4755-3p	CLIP-seq
MIRT1140230	hsa-miR-4774-5p	CLIP-seq
MIRT1140231	hsa-miR-499a-5p	CLIP-seq
MIRT1140232	hsa-miR-532-3p	CLIP-seq
MIRT1140233	hsa-miR-541	CLIP-seq
MIRT1140234	hsa-miR-563	CLIP-seq
MIRT1140235	hsa-miR-575	CLIP-seq
MIRT1140236	hsa-miR-580	CLIP-seq
MIRT1140237	hsa-miR-589	CLIP-seq
MIRT1140238	hsa-miR-629	CLIP-seq
MIRT1140239	hsa-miR-654-5p	CLIP-seq
MIRT1140240	hsa-miR-764	CLIP-seq
MIRT1140241	hsa-miR-1	CLIP-seq
MIRT1140242	hsa-miR-1267	CLIP-seq
MIRT1140243	hsa-miR-206	CLIP-seq
MIRT1140244	hsa-miR-3135	CLIP-seq
MIRT1140245	hsa-miR-3194-3p	CLIP-seq
MIRT1140246	hsa-miR-3652	CLIP-seq
MIRT1140247	hsa-miR-3673	CLIP-seq
MIRT1140248	hsa-miR-3929	CLIP-seq
MIRT1140249	hsa-miR-4419b	CLIP-seq
MIRT1140250	hsa-miR-4423-5p	CLIP-seq
MIRT1140251	hsa-miR-4430	CLIP-seq
MIRT1140252	hsa-miR-4478	CLIP-seq
MIRT1140253	hsa-miR-4774-3p	CLIP-seq
MIRT1140254	hsa-miR-613	CLIP-seq
MIRT1140255	hsa-miR-645	CLIP-seq
MIRT1140241	hsa-miR-1	CLIP-seq
MIRT2039708	hsa-miR-1281	CLIP-seq
MIRT2039709	hsa-miR-1293	CLIP-seq
MIRT1140243	hsa-miR-206	CLIP-seq
MIRT2039710	hsa-miR-24	CLIP-seq
MIRT2039711	hsa-miR-2681	CLIP-seq
MIRT2039712	hsa-miR-3127-5p	CLIP-seq
MIRT1140244	hsa-miR-3135	CLIP-seq
MIRT2039713	hsa-miR-3160-5p	CLIP-seq
MIRT2039714	hsa-miR-323-5p	CLIP-seq
MIRT2039715	hsa-miR-3622b-5p	CLIP-seq
MIRT1140246	hsa-miR-3652	CLIP-seq
MIRT1140247	hsa-miR-3673	CLIP-seq
MIRT1140248	hsa-miR-3929	CLIP-seq
MIRT2039716	hsa-miR-4284	CLIP-seq
MIRT2039717	hsa-miR-4330	CLIP-seq
MIRT2039718	hsa-miR-4418	CLIP-seq
MIRT1140249	hsa-miR-4419b	CLIP-seq
MIRT1140250	hsa-miR-4423-5p	CLIP-seq
MIRT1140251	hsa-miR-4430	CLIP-seq
MIRT1140252	hsa-miR-4478	CLIP-seq
MIRT2039719	hsa-miR-4483	CLIP-seq
MIRT1140253	hsa-miR-4774-3p	CLIP-seq
MIRT2039720	hsa-miR-509-3-5p	CLIP-seq
MIRT2039721	hsa-miR-509-5p	CLIP-seq
MIRT1140232	hsa-miR-532-3p	CLIP-seq
MIRT1140254	hsa-miR-613	CLIP-seq
MIRT1140255	hsa-miR-645	CLIP-seq
MIRT1140241	hsa-miR-1	CLIP-seq
MIRT1140198	hsa-miR-1224-3p	CLIP-seq
MIRT2269507	hsa-miR-1245	CLIP-seq
MIRT1140201	hsa-miR-125a-3p	CLIP-seq
MIRT1140202	hsa-miR-1260	CLIP-seq
MIRT1140203	hsa-miR-1260b	CLIP-seq
MIRT2269508	hsa-miR-1266	CLIP-seq
MIRT1140204	hsa-miR-1280	CLIP-seq
MIRT2269509	hsa-miR-1291	CLIP-seq
MIRT1140205	hsa-miR-146a	CLIP-seq
MIRT1140206	hsa-miR-146b-5p	CLIP-seq
MIRT1140243	hsa-miR-206	CLIP-seq
MIRT2039710	hsa-miR-24	CLIP-seq
MIRT2039711	hsa-miR-2681	CLIP-seq
MIRT2269510	hsa-miR-29a	CLIP-seq
MIRT2269511	hsa-miR-29b	CLIP-seq
MIRT2269512	hsa-miR-29c	CLIP-seq
MIRT2269513	hsa-miR-3065-3p	CLIP-seq
MIRT2039712	hsa-miR-3127-5p	CLIP-seq
MIRT1140244	hsa-miR-3135	CLIP-seq
MIRT2269514	hsa-miR-3199	CLIP-seq
MIRT2039715	hsa-miR-3622b-5p	CLIP-seq
MIRT1140246	hsa-miR-3652	CLIP-seq
MIRT1140247	hsa-miR-3673	CLIP-seq
MIRT2269515	hsa-miR-3691-3p	CLIP-seq
MIRT2269516	hsa-miR-3918	CLIP-seq
MIRT1140248	hsa-miR-3929	CLIP-seq
MIRT1140218	hsa-miR-3934	CLIP-seq
MIRT2269517	hsa-miR-4326	CLIP-seq
MIRT1140249	hsa-miR-4419b	CLIP-seq
MIRT1140250	hsa-miR-4423-5p	CLIP-seq
MIRT1140251	hsa-miR-4430	CLIP-seq
MIRT2269518	hsa-miR-4454	CLIP-seq
MIRT1140252	hsa-miR-4478	CLIP-seq
MIRT2269519	hsa-miR-4502	CLIP-seq
MIRT2269520	hsa-miR-4518	CLIP-seq
MIRT1140227	hsa-miR-4714-3p	CLIP-seq
MIRT1140228	hsa-miR-4740-3p	CLIP-seq
MIRT1140253	hsa-miR-4774-3p	CLIP-seq
MIRT1140230	hsa-miR-4774-5p	CLIP-seq
MIRT2269521	hsa-miR-4794	CLIP-seq
MIRT1140232	hsa-miR-532-3p	CLIP-seq
MIRT2269522	hsa-miR-552	CLIP-seq
MIRT1140234	hsa-miR-563	CLIP-seq
MIRT1140236	hsa-miR-580	CLIP-seq
MIRT1140237	hsa-miR-589	CLIP-seq
MIRT1140254	hsa-miR-613	CLIP-seq
MIRT2269523	hsa-miR-619	CLIP-seq
MIRT1140255	hsa-miR-645	CLIP-seq
MIRT1140240	hsa-miR-764	CLIP-seq
MIRT2269524	hsa-miR-767-5p	CLIP-seq
MIRT1140241	hsa-miR-1	CLIP-seq
MIRT1140243	hsa-miR-206	CLIP-seq
MIRT2039711	hsa-miR-2681	CLIP-seq
MIRT1140244	hsa-miR-3135	CLIP-seq
MIRT2039715	hsa-miR-3622b-5p	CLIP-seq
MIRT1140246	hsa-miR-3652	CLIP-seq
MIRT1140247	hsa-miR-3673	CLIP-seq
MIRT1140248	hsa-miR-3929	CLIP-seq
MIRT1140249	hsa-miR-4419b	CLIP-seq
MIRT1140250	hsa-miR-4423-5p	CLIP-seq
MIRT1140251	hsa-miR-4430	CLIP-seq
MIRT1140252	hsa-miR-4478	CLIP-seq
MIRT1140253	hsa-miR-4774-3p	CLIP-seq
MIRT1140254	hsa-miR-613	CLIP-seq
MIRT1140255	hsa-miR-645	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	12654921, 37653044
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IBA
GO:0006631	Process	Fatty acid metabolic process	IDA	12654921
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IMP	27817865
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	37653044
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0046513	Process	Ceramide biosynthetic process	IMP	37653044
GO:0141148	Function	Enoyl-[acyl-carrier-protein] reductase (NADPH) activity	IDA	12654921
GO:0141148	Function	Enoyl-[acyl-carrier-protein] reductase (NADPH) activity	IEA

MIM	HGNC	e!Ensembl
608205	19691	ENSG00000116353

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

Tissue specificity

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. {ECO:0000269|PubMed:12654921}.

Sequence

MWVCSTLWRVRTPARQWRGLLPASGCHGPAASSYSASAEPARVRALVYGHHGDPAKVVEL
KNLELAAVRGSDVRVKMLAAPINPSDINMIQGNYGFLPELPAVGGNEGVAQVVAVGSNVT
GLKPGDWVIPANAGLGTWRTEAVFSEEALIQVPSDIPLQSAATLGVNPCTAYRMLMDFEQ
LQPGDSVIQNASNSGVGQAVIQIAAALGLRTINVVRDRPDIQKLSDRLKSLGAEHVITEE
ELRRPEMKNFFKDMPQPRLALNCVGGKSSTELLRQLARGGTMVTYGGMAKQPVVASVSLL
IFKDLKLRGFWLSQWKKDHSPDQFKELILTLCDLIRRGQLTAPACSQVPLQDYQSALEAS
MKPFISSKQILTM

Sequence length

373

Interactions

View interactions

	KEGG		Reactome
	Fatty acid biosynthesis Fatty acid elongation Metabolic pathways Fatty acid metabolism		Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Childhood Onset Dystonias	Likely pathogenic; Pathogenic	rs762913101, rs1057519286, rs759218713, rs1057519287, rs756421370	RCV000755156 RCV000755157 RCV000755159 RCV000755161 RCV000755158
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	Pathogenic; Likely pathogenic	rs761771473, rs762913101, rs1057519286, rs759218713, rs1057519287, rs756421370, rs1574315873	RCV001527409 RCV000415570 RCV000415602 RCV000415576 RCV000415548 RCV000626033 RCV000995577
MECR-related disorder	Likely pathogenic; Pathogenic	rs762913101	RCV004758009
Mitochondrial disease	Likely pathogenic; Pathogenic	rs762913101, rs756421370	RCV003314592 RCV003314605
Optic atrophy	Likely pathogenic; Pathogenic	rs762913101, rs1057519286, rs759218713, rs1057519287, rs756421370	RCV000755156 RCV000755157 RCV000755159 RCV000755161 RCV000755158
Optic atrophy 16	Likely pathogenic; Pathogenic	rs756421370	RCV005027604

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Benign	rs3003636	RCV005916933
Lymphoma	Uncertain significance	rs374970921	RCV005898562
Malignant tumor of urinary bladder	Uncertain significance	rs374970921	RCV005898561
Uveal melanoma	Benign	rs3003636	RCV005916934

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Basal Ganglia Diseases	Associate	33401012, 37734847
Dystonia	Associate	33401012, 37734847
Genetic Diseases Inborn	Associate	37734847
Lymphedema Congenital Recessive	Associate	37734847
Lymphoma	Associate	38254162
Lymphoma Large B Cell Diffuse	Associate	38254162
Mitochondrial Diseases	Associate	27817865, 33401012
Mohr Tranebjaerg syndrome	Associate	27817865
Neoplasm Metastasis	Stimulate	31178528
Neoplasms	Associate	31178528
Optic Atrophy	Associate	33401012, 37734847, 38296034
Optic Atrophy Hereditary Leber	Associate	37734847
Scotoma	Associate	37734847
Vision Disorders	Associate	37734847

MECR (mitochondrial trans-2-enoyl-CoA reductase)