ECI2 - enoyl-CoA delta isomerase 2 Gene

Also Known as DRS1; PECI; ACBD2; DRS-1; HCA88; dJ1013A10.3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10455

About ECI2

Cytogenetic location: 6p25.2 Genomic coordinates (GRCh38): 6:4,115,706-4,135,575 (from NCBI)

This gene has 11 transcripts (splice variants), 227 orthologues and 4 paralogues. Ubiquitous expression in liver (RPKM 93.4), kidney (RPKM 88.4) and 25 other tissues.

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 during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

ECI2 Products (3)

mRNA Protein Name
NM_001166010.2 NP_001159482.1 enoyl-CoA delta isomerase 2 isoform 1
NM_006117.3 NP_006108.2 enoyl-CoA delta isomerase 2 isoform 1
NM_206836.3 NP_996667.2 enoyl-CoA delta isomerase 2 isoform 2
Molecular Function GO Annotation Evidence References Source
enables delta(3)-delta(2)-enoyl-CoA isomerase activity IDA
IDA: Inferred from direct assay
10419495 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
27499296 GOA
Biological Process GO Annotation Evidence References Source
involved in fatty acid catabolic process IDA
IDA: Inferred from direct assay
10419495 GOA
Cellular Component GO Annotation Evidence References Source
located in peroxisomal matrix IDA
IDA: Inferred from direct assay
10419495 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ECI2 Protein Structure

ACBP

ACBP: Acyl CoA binding protein (40 - 121)

ECH_1

ECH_1: Enoyl-CoA hydratase/isomerase (145 - 388)

  • 0
  • 100
  • 200
  • 300
  • 394 a.a.
Protein Preferred Names Protein Names

enoyl-CoA delta isomerase 2

  • D3,D2-enoyl-CoA isomerase

ECI2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ECI2 O75521 TNPO3 Homo sapiens Q9Y5L0 32296183
Intra
ECI2 O75521 ECH1 Homo sapiens Q13011 33961781
Intra
ECI2 O75521 ECH1 Homo sapiens Q13011 27499296
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Retinal Dystrophy With Leukodystrophy
  • RDLKD

  • Acbd5 Deficiency

  • Dystrophy, Retinal, With Leukodystrophy

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Peroxisomal Biogenesis Disorder
  • Zellweger Spectrum Disorders

  • Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

  • Disorders Of Peroxisome Biogenesis

  • Zellweger Spectrum

  • Zellweger Syndrome Spectrum

  • Peroxisomal Biogenesis Disorders

  • Pbd, Zss

  • Pbd-Zsd

  • Pbd-Zss

  • Pbd-Zellweger Spectrum Disorder

  • Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

  • Peroxisome Biogenesis Disorder

  • Peroxisome Biogenesis Disorder Spectrum

  • Peroxisome Biogenesis Disorders

  • Zellweger Spectrum Disorder

  • Hyperpipecolic Acidaemia

Zellweger Syndrome
  • Cerebrohepatorenal Syndrome

  • Zellweger Leukodystrophy

  • Zs

  • Congenital Iron Overload

  • Chr

  • Zws

  • Severe Pbd-Zsd

  • Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus ECI2 VGNC VGNC:61710
Bos taurus ECI2 VGNC VGNC:28310
Rattus norvegicus ECI2 RGD RGD:1359427
Macaca mulatta ECI2 VGNC VGNC:72048
Mus musculus ECI2 MGD MGI:1346064
Canis familiaris ECI2 VGNC VGNC:40186
Others ECI2 NCBI