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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
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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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