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

Gene ID: 55268, updated on 1-Jun-2020

Summary

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
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
Expression
Ubiquitous expression in liver (RPKM 18.0), ovary (RPKM 13.9) and 25 other tissues See more
Orthologs

Genomic context

See ECHDC2 in Genome Data Viewer
Location:
1p32.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (52895910..52927212, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53361582..53392846, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zyg-11 family member B, cell cycle regulator Neighboring gene RNA, U6 small nuclear 969, pseudogene Neighboring gene zyg-11 family member A, cell cycle regulator Neighboring gene translation machinery-associated protein 7 pseudogene Neighboring gene ATP synthase membrane subunit 6.8PL 0pseudogene Neighboring gene sterol carrier protein 2 Neighboring gene H3 histone pseudogene 2 Neighboring gene RRAS2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
enoyl-CoA hydratase domain-containing protein 2, mitochondrial
Names
enoyl Coenzyme A hydratase domain containing 2

NCBI Reference Sequences (RefSeq)

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_001198961.2NP_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
    Q86YB7
    Related
    ENSP00000360577.4, ENST00000371522.9
    Conserved Domains (1) summary
    cl23717
    Location:38292
    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_001198962.1NP_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
    F6RJU0
    Related
    ENSP00000439264.2, ENST00000536120.5
    Conserved Domains (1) summary
    cl23717
    Location:38244
    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_001319958.2NP_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:1215
    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_018281.4NP_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/Swiss-Prot
    Q86YB7
    Related
    ENSP00000351125.5, ENST00000358358.9
    Conserved Domains (1) summary
    cl23717
    Location:38261
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    52895910..52927212 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001638.1XP_016857127.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. XM_011541709.2XP_011540011.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl23717
    Location:38252
    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_024448159.1XP_024303927.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X5

    Conserved Domains (1) summary
    cl23717
    Location:38202
    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_024448152.1XP_024303920.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl23717
    Location:38221
    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_024448158.1XP_024303926.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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_024448157.1XP_024303925.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. ...
  7. XM_011541715.3XP_011540017.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    See identical proteins and their annotated locations for XP_011540017.1

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. ...
  8. XM_024448161.1XP_024303929.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X7

    Conserved Domains (1) summary
    cl23717
    Location:38242
    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. ...
  9. XM_024448163.1XP_024303931.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X10

    Conserved Domains (1) summary
    cl23717
    Location:1215
    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. ...
  10. XM_011541723.2XP_011540025.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    See identical proteins and their annotated locations for XP_011540025.1

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. ...
  11. XM_011541722.2XP_011540024.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    See identical proteins and their annotated locations for XP_011540024.1

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. ...
  12. XM_011541719.2XP_011540021.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    See identical proteins and their annotated locations for XP_011540021.1

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. ...
  13. XM_017001639.1XP_016857128.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. ...
  14. XM_011541727.3XP_011540029.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X9

    Conserved Domains (1) summary
    cl23717
    Location:1156
    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. ...
  15. XM_024448164.1XP_024303932.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X10

    Conserved Domains (1) summary
    cl23717
    Location:1215
    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. ...
  16. XM_011541720.3XP_011540022.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    See identical proteins and their annotated locations for XP_011540022.1

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. ...
  17. XM_011541726.3XP_011540028.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X8

    Conserved Domains (1) summary
    cl23717
    Location:1175
    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. ...
  18. XM_011541713.3XP_011540015.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    See identical proteins and their annotated locations for XP_011540015.1

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. ...
  19. XM_017001640.1XP_016857129.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X4

    Conserved Domains (1) summary
    cl23717
    Location:1206
    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. ...
  20. XM_024448160.1XP_024303928.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X6

    Conserved Domains (1) summary
    cl23717
    Location:38245
    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. ...
  21. XM_024448153.1XP_024303921.1  enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform X3

    Conserved Domains (1) summary
    cl23717
    Location:39276
    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. ...

RNA

  1. XR_002957012.1 RNA Sequence

  2. XR_002957011.1 RNA Sequence

  3. XR_002957014.1 RNA Sequence

  4. XR_002957013.1 RNA Sequence

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