ECI2 (enoyl-CoA delta isomerase 2)

2018-07-01  

Identity

HGNC
LOCATION
6p25.2
LOCUSID
ALIAS
ACBD2,DRS-1,DRS1,HCA88,PECI,dJ1013A10.3
FUSION GENES

Other Information

Locus ID:

NCBI: 10455
MIM: 608024
HGNC: 14601
Ensembl: ENSG00000198721

Variants:

dbSNP: 10455
ClinVar: 10455
TCGA: ENSG00000198721
COSMIC: ECI2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198721ENST00000361538A0A0C4DGA2
ENSG00000198721ENST00000380118O75521
ENSG00000198721ENST00000380120F8W6J1
ENSG00000198721ENST00000380125A0A0C4DGA2
ENSG00000198721ENST00000465828A0A0C4DGA2
ENSG00000198721ENST00000478266F1LLU7
ENSG00000198721ENST00000495548C9JB63
ENSG00000198721ENST00000496241F8WAW4

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
Fatty acid degradationKEGGhsa00071
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
271676102016ACBD2/ECI2-Mediated Peroxisome-Mitochondria Interactions in Leydig Cell Steroid Biosynthesis.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
284157282017Lipid degradation promotes prostate cancer cell survival.16
119169622002Disruption of mitochondrial beta -oxidation of unsaturated fatty acids in the 3,2-trans-enoyl-CoA isomerase-deficient mouse.15
152178322004Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells.14

Citation

Dessen P

ECI2 (enoyl-CoA delta isomerase 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57588/eci2