U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 10455, updated on 2-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001166010.2NP_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:112305
      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:1083
      ACBP; Acyl CoA binding protein
    2. NM_006117.3NP_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:112305
      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:1083
      ACBP; Acyl CoA binding protein
    3. NM_206836.3NP_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:142335
      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:40113
      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)