• Gene id: 10455

Gene Summary

• Gene Symbol: ECI2   Gene   UCSC   Ensembl
• Aliases: ACBD2, DRS-1, DRS1, HCA88, PECI, dJ1013A10.3
• Gene name: enoyl-CoA delta isomerase 2
• Alternate names: enoyl-CoA delta isomerase 2, mitochondrial, D3,D2-enoyl-CoA isomerase, DBI-related protein 1, acyl-Coenzyme A binding domain containing 2, delta(3),delta(2)-enoyl-CoA isomerase, diazepam-binding inhibitor-related protein 1, dodecenoyl-CoA isomerase, hepatocellul,
• Gene location: 6p25.2 (4135596: 4115692)     Exons: 12     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 608024

Protein Summary

• Protein general information: O75521  
  • Name: Enoyl CoA delta isomerase 2, mitochondrial (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
  • Length: 394  
  • Mass: 43585
  • Tissue specificity: Abundant in heart, skeletal muscle and liver. Expressed in CD34(+) T-cells and CD34(+) bone marrow cells. {ECO
• Sequence:

  MAMAYLAWRLARRSCPSSLQVTSFPVVQLHMNRTAMRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEG
  PCNMPKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSPSLESSSQVEPGTDRKSTGFETLVVTSEDGI
  TKIMFNRPKKKNAINTEMYHEIMRALKAASKDDSIITVLTGNGDYYSSGNDLTNFTDIPPGGVEEKAKNNAVLLR
  EFVGCFIDFPKPLIAVVNGPAVGISVTLLGLFDAVYASDRATFHTPFSHLGQSPEGCSSYTFPKIMSPAKATEML
  IFGKKLTAGEACAQGLVTEVFPDSTFQKEVWTRLKAFAKLPPNALRISKEVIRKREREKLHAVNAEECNVLQGRW
  LSDECTNAVVNFLSRKSKL

• Structural information:
  • Protein Domains: (39..12-)
    (/note="ACB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00573"-)
  • Interpro: IPR022408  IPR000582  IPR035984  IPR029045  IPR001753   IPR014748  IPR014352  
  • Prosite: PS00880 PS51228
  • PDB: 2CQU 2F6Q 4U18 4U19 4U1A
  • PDBsum: 2CQU 2F6Q 4U18 4U19 4U1A
  • STRING: ENSP00000369461
• Other Databases: GeneCards:  ECI2  Malacards:  ECI2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006635	fatty acid beta-oxidation	ISS	biological process
GO:0000062	fatty-acyl-CoA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0004165	dodecenoyl-CoA delta-isomerase activity	IEA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0004165	dodecenoyl-CoA delta-isomerase activity	IEA	molecular function
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0016863	intramolecular oxidoreductase activity, transposing C=C bonds	IEA	molecular function
GO:0005782	peroxisomal matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome
hsa00071	Fatty acid degradation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881