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

Gene

• Entrez ID: 51102
• Gene name: Mitochondrial trans-2-enoyl-CoA reductase
• Gene symbol: MECR
• Synonyms (NCBI Gene): CGI-63, DYTOABG, ETR1, FASN2B, NRBF1, OPA16
• 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]

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 608205
• HGNC: 19691
• e!Ensembl: ENSG00000116353

Protein

• 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

• 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

Pathways

KEGG:

Fatty acid biosynthesis
Fatty acid elongation
Metabolic pathways
Fatty acid metabolism

Reactome:

Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Childhood Onset Dystonias	Likely pathogenic; Pathogenic	rs762913101, rs1057519286, rs759218713, rs1057519287, rs756421370	RCV000755156 RCV000755157 RCV000755159 RCV000755161 RCV000755158	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECR-related disorder	Likely pathogenic; Pathogenic	rs762913101	RCV004758009	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs762913101, rs756421370	RCV003314592 RCV003314605	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Likely pathogenic; Pathogenic	rs762913101, rs1057519286, rs759218713, rs1057519287, rs756421370	RCV000755156 RCV000755157 RCV000755159 RCV000755161 RCV000755158	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic atrophy 16	Likely pathogenic; Pathogenic	rs756421370	RCV005027604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	33401012, 37734847	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Childhood Onset Dystonias	Dystonia	BEFREE	27817865		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Childhood Onset Dystonias	Dystonia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17148761, 19424623		★☆☆☆☆ Found in Text Mining only
Craniofacial dystonia	Craniofacial dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33401012, 37734847	Associate	★☆☆☆☆ Found in Text Mining only
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES	Dystonia With Optic Atrophy And Basal Ganglia Abnormalities	UNIPROT_DG	27817865		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES	Dystonia With Optic Atrophy And Basal Ganglia Abnormalities	GENOMICS_ENGLAND_DG	27817865		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES	Dystonia With Optic Atrophy And Basal Ganglia Abnormalities	ORPHANET_DG	27817865		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES	Dystonia With Optic Atrophy And Basal Ganglia Abnormalities	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES	Dystonia With Optic Atrophy And Basal Ganglia Abnormalities	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hermaphroditism	Hermaphroditism	BEFREE	28648844		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	38254162	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEPAN syndrome	MEPAN Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27817865, 33401012	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	27817865		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy	Optic atrophy	Pubtator	33401012, 37734847, 38296034	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	37734847	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26531332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vision Disorders	Visual disorder	Pubtator	37734847	Associate	★☆☆☆☆ Found in Text Mining only