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    ECI2 enoyl-CoA delta isomerase 2 [ Homo sapiens (human) ]

    Gene ID: 10455, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ECI2provided by HGNC
    Official Full Name
    enoyl-CoA delta isomerase 2provided by HGNC
    Primary source
    HGNC:HGNC:14601
    See related
    Ensembl:ENSG00000198721 MIM:608024; AllianceGenome:HGNC:14601
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRS1; PECI; ACBD2; DRS-1; HCA88; dJ1013A10.3
    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]
    Expression
    Ubiquitous expression in liver (RPKM 93.4), kidney (RPKM 88.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ECI2 in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (4115706..4135575, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3984995..4004863, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (4115940..4135809, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23896 Neighboring gene pre-mRNA processing factor kinase PRP4K Neighboring gene Sharpr-MPRA regulatory region 2502 Neighboring gene uncharacterized LOC124901553 Neighboring gene family with sequence similarity 217 member A Neighboring gene testis expressed 56, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16860 Neighboring gene uncharacterized LOC107986559 Neighboring gene uncharacterized LOC124901246 Neighboring gene ECI2 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:4168819-4169425 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:4169426-4170031 Neighboring gene CRISPRi-validated cis-regulatory element chr6.285

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The lipid-metabolism enzyme ECI2 reduces neutrophil extracellular traps formation for colorectal cancer suppression. Chen L, et al. Nat Commun, 2024 Aug 21. PMID 39169021, Free PMC Article
    2. Molecular cloning and expression of a novel human cDNA related to the diazepam binding inhibitor. Suk K, et al. Biochim Biophys Acta, 1999 May 31. PMID 10354522
    3. ACBD2/ECI2-Mediated Peroxisome-Mitochondria Interactions in Leydig Cell Steroid Biosynthesis. Fan J, et al. Mol Endocrinol, 2016 Jul. PMID 27167610, Free PMC Article
    4. Lipid degradation promotes prostate cancer cell survival. Itkonen HM, et al. Oncotarget, 2017 Jun 13. PMID 28415728, Free PMC Article
    5. Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells. Feng X, et al. Blood, 2004 Oct 15. PMID 15217832

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The lipid-metabolism enzyme ECI2 reduces neutrophil extracellular traps formation for colorectal cancer suppression.
      Title: The lipid-metabolism enzyme ECI2 reduces neutrophil extracellular traps formation for colorectal cancer suppression.
    2. Enoyl-CoA delta isomerase 2 (ECI2) is a novel AR-target that promotes prostate cancer cell survival
      Title: Lipid degradation promotes prostate cancer cell survival.
    3. Ectopic expression of the ACBD2/ECI2 isoform A in MA-10 cells led to increased basal and hormone-stimulated steroid formation, indicating that ACBD2/ECI2-mediated peroxisomes-mitochondria interactions favor in the exchange of metabolites and/or macromolecules between these 2 organelles in support of steroid biosynthesis. Considering the widespread occurrence of the ACBD2/ECI2 protein, we propose that this protein might se
      Title: ACBD2/ECI2-Mediated Peroxisome-Mitochondria Interactions in Leydig Cell Steroid Biosynthesis.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. DRS-1 may serve as an autoantigen eliciting immune attack against hematopoietic stem cells in a subset of acquired aplastic anemia patients characterized by increased paroxysmal nocturnal hemoglobinuria-type cells
      Title: Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells.
    6. Disruption of mitochondrial beta -oxidation of unsaturated fatty acids in the 3,2-trans-enoyl-CoA isomerase-deficient mouse
      Title: Disruption of mitochondrial beta -oxidation of unsaturated fatty acids in the 3,2-trans-enoyl-CoA isomerase-deficient mouse.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0536

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables delta(3)-delta(2)-enoyl-CoA isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables delta(3)-delta(2)-enoyl-CoA isomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables fatty-acyl-CoA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid beta-oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fatty acid catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in peroxisomal matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
    		  
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    enoyl-CoA delta isomerase 2
    Names
    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
    enoyl-CoA delta isomerase 2, mitochondrial
    hepatocellular carcinoma-associated antigen 88
    peroxisomal 3,2-trans-enoyl-CoA isomerase
    peroxisomal D3,D2-enoyl-CoA isomerase
    renal carcinoma antigen NY-REN-1
    testicular secretory protein Li 33
    NP_001159482.1
    NP_006108.2
    NP_996667.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001166010.2 → NP_001159482.1  enoyl-CoA delta isomerase 2 isoform 1

      See identical proteins and their annotated locations for NP_001159482.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      BC034702
      Consensus CDS
      CCDS4490.1
      UniProtKB/TrEMBL
      A0A0C4DGA2, Q53GC8, Q53HG3
      Related
      ENSP00000369468.2, ENST00000380125.6
      Conserved Domains (2) summary
      cd06558
      Location:112 → 305
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
      pfam00887
      Location:10 → 83
      ACBP; Acyl CoA binding protein

    2. NM_006117.3 → NP_006108.2  enoyl-CoA delta isomerase 2 isoform 1

      See identical proteins and their annotated locations for NP_006108.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the shorter isoform (1). Both variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AU100345, BC033841
      Consensus CDS
      CCDS4490.1
      UniProtKB/TrEMBL
      A0A0C4DGA2, Q53GC8, Q53HG3
      Related
      ENSP00000354737.2, ENST00000361538.6
      Conserved Domains (2) summary
      cd06558
      Location:112 → 305
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
      pfam00887
      Location:10 → 83
      ACBP; Acyl CoA binding protein

    3. NM_206836.3 → NP_996667.2  enoyl-CoA delta isomerase 2 isoform 2

      See identical proteins and their annotated locations for NP_996667.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate upstream translational start codon and includes an alternate splice site in its 5' coding region, compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AU100345, BC002668
      Consensus CDS
      CCDS43420.2
      UniProtKB/Swiss-Prot
      O75521, Q5JYK5, Q5JYK7, Q7L124, Q8N0X0, Q9BUE9, Q9H0T9, Q9NQH1, Q9NYH7, Q9UN55
      UniProtKB/TrEMBL
      Q53GC8, Q53HG3
      Related
      ENSP00000369461.3, ENST00000380118.8
      Conserved Domains (2) summary
      cd06558
      Location:142 → 335
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
      pfam00887
      Location:40 → 113
      ACBP; Acyl CoA binding protein

    RNA

    1. NR_028588.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of multiple upstream ORFs that are predicted to interfere with the translation of the longest ORF.
      Source sequence(s)
      AU100345, BC016781, BC025287, BM671011
      Related
      ENST00000496241.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      4115706..4135575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      3984995..4004863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75521.4 GenPept UniProtKB/Swiss-Prot:O75521

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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