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    ECHDC2 enoyl CoA hydratase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 55268, updated on 5-May-2013
    Official Symbol
    ECHDC2provided by HGNC
    Official Full Name
    enoyl CoA hydratase domain containing 2provided by HGNC
    Primary source
    HGNC:23408
    See related
    Ensembl:ENSG00000121310; HPRD:07718; Vega:OTTHUMG00000008927
    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
    Location :
    1p32.3
    Sequence :
    Chromosome: 1; NC_000001.10 (53361582..53387446, complement)
    See ECHDC2 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene zyg-11 family member B, cell cycle regulator Neighboring gene ribosomal protein S13 pseudogene 2 Neighboring gene zyg-11 family member A, cell cycle regulator Neighboring gene chromosome 14 open reading frame 2 pseudogene Neighboring gene microRNA 1273f Neighboring gene sterol carrier protein 2

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832.
    2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049.
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965.
    4. Physical interaction of two cancer-testis antigens, MAGE-C1 (CT7) and NY-ESO-1 (CT6). Cho HJ, et al. Cancer Immun, 2006 Dec 1. PMID 17137291.
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.

    See all (8) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Enoyl coenzyme A hydratase domain containing 2 O60732 MAGEC1    HPRD  PubMed  
    BioGRID:120557 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:120557 BioGRID:115272 MAGEC1    BioGRID  PubMed Two-hybrid 
    BioGRID:120557 BioGRID:119679 NAA38    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ10948, FLJ45240, FLJ51075, FLJ52213, FLJ52450, FLJ78805, FLJ99576, MGC57155, DKFZp686F0985, DKFZp686K13244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    enoyl-CoA hydratase domain-containing protein 2, mitochondrial
    Names
    enoyl-CoA hydratase domain-containing protein 2, mitochondrial
    enoyl Coenzyme A hydratase domain containing 2

    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_001198961.1 → NP_001185890.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA946561, AC099677, BC038389, BC044574, DA868944
      Consensus CDS
      CCDS55600.1
      UniProtKB/Swiss-Prot
      Q86YB7
      Related
      ENSP00000360577, OTTHUMP00000010483, ENST00000371522, OTTHUMT00000024712
      Conserved Domains (2) summary
      cd06558
      Location:39 – 231
      Blast Score: 412
      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. ...
      PLN02600
      Location:38 – 292
      Blast Score: 644
      PLN02600; enoyl-CoA hydratase

    2. NM_001198962.1 → NP_001185891.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two in-frame coding exons compared to variant 1. The resulting isoform (3) lacks two internal segments compared to isoform 1.
      Source sequence(s)
      AA946561, AC099677, CF127686, DA868944
      Conserved Domains (2) summary
      cd06558
      Location:39 – 200
      Blast Score: 316
      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. ...
      PLN02600
      Location:38 – 244
      Blast Score: 472
      PLN02600; enoyl-CoA hydratase

    3. NM_018281.3 → NP_060751.2  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. The resulting isoform (2) lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AA946561, AC099677, BC038389, BC044574, DA868944
      Consensus CDS
      CCDS571.1
      UniProtKB/Swiss-Prot
      Q86YB7
      Conserved Domains (2) summary
      cd06558
      Location:39 – 200
      Blast Score: 314
      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. ...
      PLN02600
      Location:38 – 261
      Blast Score: 558
      PLN02600; enoyl-CoA hydratase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p10 Primary Assembly

      Range
      53361582..53387446, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      51477347..51503011, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018912.1 Alternate CHM1_1.0

      Range
      53440937..53466802, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01074752.1 (474..14416) None
    genomic ABBA01074753.1 None
    genomic AC099677.2 (56834..82575) None
    genomic AMYH01000624.1 (49548..75413) None
    genomic CH471059.2 EAX06763.1
      EAX06764.1
      EAX06765.1
      EAX06766.1
      EAX06767.1
      EAX06768.1
    mRNA AA946561.1 None
    mRNA AF258590.1 AAG23793.1
    mRNA AK001810.1 BAA91922.1
    mRNA AK299834.1 BAG61701.1
    mRNA AK300896.1 BAG62535.1
    mRNA AK302285.1 BAH13666.1
    mRNA AK307381.1 None
    mRNA AK309535.1 None
    mRNA AK310650.1 None
    mRNA AK315906.1 BAH14277.1
    mRNA AL832874.1 None
    mRNA BC038389.1 None
    mRNA BC040480.1 None
    mRNA BC044574.1 AAH44574.1
    mRNA BC051887.1 AAH51887.1
    mRNA BX647186.1 None
    mRNA BX648522.1 None
    mRNA CF127686.1 None
    mRNA DA868944.1 None
    other-genetic HQ448019.1 ADQ32500.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YB7.2 GenPept UniProtKB/Swiss-Prot:Q86YB7

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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