ECI2 (enoyl-CoA delta isomerase 2)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 10455
• Gene name: Enoyl-CoA delta isomerase 2
• Gene symbol: ECI2
• Synonyms (NCBI Gene): ACBD2, DRS-1, DRS1, HCA88, PECI, dJ1013A10.3
• Chromosome: 6
• Chromosome location: 6p25.2
• Summary: This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising durin

miRNA Show/Hide all (31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005655	hsa-miR-124-3p	Microarray	15685193
MIRT005655	hsa-miR-124-3p	Microarray	18668037
MIRT005655	hsa-miR-124-3p	Microarray	15685193
MIRT030944	hsa-miR-21-5p	Sequencing	20371350
MIRT036886	hsa-miR-877-3p	CLASH	23622248
MIRT951789	hsa-miR-194	CLIP-seq
MIRT951790	hsa-miR-4257	CLIP-seq
MIRT951791	hsa-miR-875-3p	CLIP-seq
MIRT2216729	hsa-miR-124	CLIP-seq
MIRT2216730	hsa-miR-1243	CLIP-seq
MIRT2216731	hsa-miR-127-5p	CLIP-seq
MIRT2216732	hsa-miR-1278	CLIP-seq
MIRT2216733	hsa-miR-1283	CLIP-seq
MIRT2216734	hsa-miR-142-3p	CLIP-seq
MIRT2216735	hsa-miR-145	CLIP-seq
MIRT2216736	hsa-miR-21	CLIP-seq
MIRT2216737	hsa-miR-3189-3p	CLIP-seq
MIRT2216738	hsa-miR-3654	CLIP-seq
MIRT2216739	hsa-miR-3664-5p	CLIP-seq
MIRT2216740	hsa-miR-3667-3p	CLIP-seq
MIRT951790	hsa-miR-4257	CLIP-seq
MIRT2216741	hsa-miR-4520a-3p	CLIP-seq
MIRT2216742	hsa-miR-4520b-3p	CLIP-seq
MIRT2216743	hsa-miR-4712-5p	CLIP-seq
MIRT2216744	hsa-miR-4714-5p	CLIP-seq
MIRT2216745	hsa-miR-502-5p	CLIP-seq
MIRT2216746	hsa-miR-506	CLIP-seq
MIRT2216747	hsa-miR-548an	CLIP-seq
MIRT2216748	hsa-miR-590-5p	CLIP-seq
MIRT2216749	hsa-miR-770-5p	CLIP-seq
MIRT951791	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000062	Function	Fatty-acyl-CoA binding	IEA
GO:0004165	Function	Delta(3)-delta(2)-enoyl-CoA isomerase activity	IBA
GO:0004165	Function	Delta(3)-delta(2)-enoyl-CoA isomerase activity	IDA	10419495
GO:0004165	Function	Delta(3)-delta(2)-enoyl-CoA isomerase activity	IEA
GO:0005515	Function	Protein binding	IPI	27499296, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	IDA	10419495
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	ISS
GO:0009062	Process	Fatty acid catabolic process	IDA	10419495
GO:0016020	Component	Membrane	HDA	19946888
GO:0016853	Function	Isomerase activity	IEA

Other IDs

• MIM: 608024
• HGNC: 14601
• e!Ensembl: ENSG00000198721

Protein

• UniProt ID: O75521
• Protein name: Enoyl-CoA delta isomerase 2 (EC 5.3.3.8) (DRS-1) (Delta(3),delta(2)-enoyl-CoA isomerase) (D3,D2-enoyl-CoA isomerase) (Diazepam-binding inhibitor-related protein 1) (DBI-related protein 1) (Dodecenoyl-CoA isomerase) (Hepatocellular carcinoma-associated ant
• Protein function: Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates.
• PDB: 2CQU , 2F6Q , 4U18 , 4U19 , 4U1A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00378	ECH_1	145 → 393	Enoyl-CoA hydratase/isomerase	Domain
  PF00887	ACBP	40 → 120	Acyl CoA binding protein	Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundant in heart, skeletal muscle and liver. Expressed in CD34(+) T-cells and CD34(+) bone marrow cells. {ECO:0000269|PubMed:10419495, ECO:0000269|PubMed:15217832}.
• Sequence:

  MAMAYLAWRLARRSCPSSLQVTSFPVVQLHMNRTAMRASQKDFENSMNQVKLLKKDPGNE
  VKLKLYALYKQATEGPCNMPKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSP
  SLESSSQVEPGTDRKSTGFETLVVTSEDGITKIMFNRPKKKNAINTEMYHEIMRALKAAS
  KDDSIITVLTGNGDYYSSGNDLTNFTDIPPGGVEEKAKNNAVLLREFVGCFIDFPKPLIA
  VVNGPAVGISVTLLGLFDAVYASDRATFHTPFSHLGQSPEGCSSYTFPKIMSPAKATEML
  IFGKKLTAGEACAQGLVTEVFPDSTFQKEVWTRLKAFAKLPPNALRISKEVIRKREREKL
  HAVNAEECNVLQGRWLSDECTNAVVNFLSRKSKL

• Sequence length: 394

Pathways

KEGG Pathway	Reactome Pathway
Fatty acid degradation	Beta-oxidation of very long chain fatty acids
Peroxisome	Peroxisomal protein import

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Colon adenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (11)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aplastic Anemia	Aplastic anemia	BEFREE	15217832		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	15217832		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40432805	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37535601	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10354522	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	10354522		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28415728, 30655870		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15217832		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	15217832		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28415728, 30655870		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28415728	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

DECR2 3 shared pathwaysPeroxisome, Beta-oxidation of very long chain fatty acids, Peroxisomal protein import Related via 3 shared pathways including Peroxisome, Beta-oxidation of very long chain fatty acids. ECH1 2 shared pathwaysPeroxisome, Peroxisomal protein import Related via 2 shared pathways including Peroxisome, Peroxisomal protein import. MPV17 2 shared pathwaysPeroxisome, Peroxisomal protein import Related via 2 shared pathways including Peroxisome, Peroxisomal protein import. PEX1 2 shared pathwaysPeroxisome, Peroxisomal protein import Related via 2 shared pathways including Peroxisome, Peroxisomal protein import. PEX6 2 shared pathwaysPeroxisome, Peroxisomal protein import Related via 2 shared pathways including Peroxisome, Peroxisomal protein import.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DECR2	0	[]	3	["Peroxisome","Beta-oxidation of very long chain fatty acids","Peroxisomal protein import"]	0	[]
ECH1	0	[]	2	["Peroxisome","Peroxisomal protein import"]	0	[]
MPV17	0	[]	2	["Peroxisome","Peroxisomal protein import"]	0	[]
PEX1	0	[]	2	["Peroxisome","Peroxisomal protein import"]	0	[]
PEX6	0	[]	2	["Peroxisome","Peroxisomal protein import"]	0	[]

Diseases Linked via Similar Genes

Deafness enamel hypoplasia nail defects Linked via 2 of 5 related genesPEX1, PEX6 Deafness-enamel hypoplasia-nail defects syndrome Linked via 2 of 5 related genesPEX1, PEX6 Global developmental delay Linked via 2 of 5 related genesPEX1, PEX6 Heimler syndrome Linked via 2 of 5 related genesPEX1, PEX6 Peroxisome biogenesis disorder Linked via 2 of 5 related genesPEX1, PEX6

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Deafness enamel hypoplasia nail defects	2	["PEX1","PEX6"]
Deafness-enamel hypoplasia-nail defects syndrome	2	["PEX1","PEX6"]
Global developmental delay	2	["PEX1","PEX6"]
Heimler syndrome	2	["PEX1","PEX6"]
Peroxisome biogenesis disorder	2	["PEX1","PEX6"]