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

    Gene ID: 55268, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ECHDC2provided by HGNC
    Official Full Name
    enoyl-CoA hydratase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:23408
    See related
    Ensembl:ENSG00000121310 MIM:620724; AllianceGenome:HGNC:23408
    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
    Summary
    Predicted to enable enoyl-CoA hydratase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver (RPKM 18.0), ovary (RPKM 13.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p32.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (52895910..52921774, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (52777434..52803290, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53361582..53387446, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zyg-11 family member B, cell cycle regulator Neighboring gene Sharpr-MPRA regulatory region 11599 Neighboring gene RNA, U6 small nuclear 969, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:53297677-53298444 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53301449-53302130 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53302131-53302812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53309013-53309606 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53334860-53335744 Neighboring gene zyg-11 family member A, cell cycle regulator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53335745-53336627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53370741-53371532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53372219-53372718 Neighboring gene Sharpr-MPRA regulatory region 4702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53377381-53377881 Neighboring gene translation machinery-associated protein 7-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53387115-53387797 Neighboring gene ATP synthase membrane subunit j pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53393043-53393558 Neighboring gene sterol carrier protein 2 Neighboring gene H3 histone pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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

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    Related articles in PubMed

    1. 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
    2. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article
    3. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    4. 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, Free PMC Article
    5. 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, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

      See identical proteins and their annotated locations for NP_001185890.1

      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
      D3DQ36, Q86YB7, Q9NV38
      Related
      ENSP00000360577.4, ENST00000371522.9
      Conserved Domains (1) summary
      cl23717
      Location:38 → 292
      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. ...

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

      See identical proteins and their annotated locations for NP_001185891.1

      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
      Consensus CDS
      CCDS72794.1
      UniProtKB/TrEMBL
      F5GWU3, F6RJU0
      Related
      ENSP00000439264.2, ENST00000536120.5
      Conserved Domains (1) summary
      cl23717
      Location:38 → 244
      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. ...

    3. NM_001319958.2 → NP_001306887.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region as well as an exon in the 3' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform 4, which is shorter than isoform 1.
      Source sequence(s)
      AA946561, AI298655, BC038389, DA868944
      Conserved Domains (1) summary
      cl23717
      Location:1 → 215
      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. ...

    4. NM_018281.4 → NP_060751.2  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_060751.2

      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/TrEMBL
      F5GWU3
      Related
      ENSP00000351125.5, ENST00000358358.9
      Conserved Domains (1) summary
      cl23717
      Location:38 → 261
      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. ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      52895910..52921774 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424372.1 → XP_047280328.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X7

    2. XM_024448161.2 → XP_024303929.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X6

      UniProtKB/TrEMBL
      F5GWU3
      Conserved Domains (1) summary
      cl23717
      Location:38 → 242
      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. ...

    3. XM_024448159.2 → XP_024303927.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl23717
      Location:38 → 202
      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. ...

    4. XM_024448160.2 → XP_024303928.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X5

      UniProtKB/TrEMBL
      F5GWU3
      Conserved Domains (1) summary
      cl23717
      Location:38 → 245
      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. ...

    5. XM_024448153.2 → XP_024303921.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl23717
      Location:39 → 276
      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. ...

    6. XM_047424374.1 → XP_047280330.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X8

    7. XM_047424376.1 → XP_047280332.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X9

    8. XM_047424344.1 → XP_047280300.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B7Z7N0

    9. XM_047424335.1 → XP_047280291.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B7Z7N0

    10. XM_047424379.1 → XP_047280335.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X11

    11. XM_047424375.1 → XP_047280331.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X9

    12. XM_047424373.1 → XP_047280329.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X8

    13. XM_047424333.1 → XP_047280289.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B7Z7N0

    14. XM_047424331.1 → XP_047280287.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X3

    15. XM_047424378.1 → XP_047280334.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X10

    RNA

    1. XR_002957013.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      52777434..52803290 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337447.1 → XP_054193422.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X7

    2. XM_054337446.1 → XP_054193421.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X6

    3. XM_054337440.1 → XP_054193415.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X2

    4. XM_054337445.1 → XP_054193420.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X5

    5. XM_054337439.1 → XP_054193414.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X1

    6. XM_054337448.1 → XP_054193423.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X8

    7. XM_054337450.1 → XP_054193425.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X9

    8. XM_054337444.1 → XP_054193419.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B7Z7N0

    9. XM_054337443.1 → XP_054193418.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B7Z7N0

    10. XM_054337452.1 → XP_054193427.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X11

    11. XM_054337449.1 → XP_054193424.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X9

    12. XM_054337442.1 → XP_054193417.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B7Z7N0

    13. XM_054337441.1 → XP_054193416.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X3

    14. XM_054337451.1 → XP_054193426.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X10

    RNA

    1. XR_008486091.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YB7.2 GenPept UniProtKB/Swiss-Prot:Q86YB7

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