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Aliases for ECHDC2 Gene

Aliases for ECHDC2 Gene

  • Enoyl-CoA Hydratase Domain Containing 2 2 3 5
  • Enoyl Coenzyme A Hydratase Domain Containing 2 2

External Ids for ECHDC2 Gene

Previous GeneCards Identifiers for ECHDC2 Gene

  • GC01M053074
  • GC01M053361
  • GC01M051477

Summaries for ECHDC2 Gene

GeneCards Summary for ECHDC2 Gene

ECHDC2 (Enoyl-CoA Hydratase Domain Containing 2) is a Protein Coding gene. Among its related pathways are Fatty Acid Biosynthesis (WikiPathways). GO annotations related to this gene include lyase activity. An important paralog of this gene is CDY1B.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECHDC2 Gene

Genomics for ECHDC2 Gene

Regulatory Elements for ECHDC2 Gene

Enhancers for ECHDC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ECHDC2 on UCSC Golden Path with GeneCards custom track

Promoters for ECHDC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ECHDC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ECHDC2 Gene

Chromosome:
1
Start:
52,895,910 bp from pter
End:
52,927,212 bp from pter
Size:
31,303 bases
Orientation:
Minus strand

Genomic View for ECHDC2 Gene

Genes around ECHDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECHDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECHDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECHDC2 Gene

Proteins for ECHDC2 Gene

  • Protein details for ECHDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YB7-ECHD2_HUMAN
    Recommended name:
    Enoyl-CoA hydratase domain-containing protein 2, mitochondrial
    Protein Accession:
    Q86YB7
    Secondary Accessions:
    • D3DQ36
    • Q9NV38

    Protein attributes for ECHDC2 Gene

    Size:
    292 amino acids
    Molecular mass:
    31126 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ECHDC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECHDC2 Gene

Proteomics data for ECHDC2 Gene at MOPED

Post-translational modifications for ECHDC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ECHDC2 Gene

Domains & Families for ECHDC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q86YB7

UniProtKB/Swiss-Prot:

ECHD2_HUMAN :
  • Belongs to the enoyl-CoA hydratase/isomerase family.
Family:
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with ECHDC2: view

No data available for Gene Families for ECHDC2 Gene

Function for ECHDC2 Gene

genes like me logo Genes that share phenotypes with ECHDC2: view

Animal Model Products

miRNA for ECHDC2 Gene

miRTarBase miRNAs that target ECHDC2

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ECHDC2 Gene

Localization for ECHDC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECHDC2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ECHDC2 Gene COMPARTMENTS Subcellular localization image for ECHDC2 gene
Compartment Confidence
mitochondrion 5
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for ECHDC2 Gene

Pathways & Interactions for ECHDC2 Gene

genes like me logo Genes that share pathways with ECHDC2: view

Pathways by source for ECHDC2 Gene

1 BioSystems pathway for ECHDC2 Gene

Gene Ontology (GO) - Biological Process for ECHDC2 Gene

None

No data available for SIGNOR curated interactions for ECHDC2 Gene

Drugs & Compounds for ECHDC2 Gene

No Compound Related Data Available

Transcripts for ECHDC2 Gene

Unigene Clusters for ECHDC2 Gene

Enoyl CoA hydratase domain containing 2:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ECHDC2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^
SP1: - - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - -
SP8: - - - - - - - - -
SP9:
SP10: - - - - - - -
SP11:
SP12: - - - - - - - - - - -
SP13: - - -
SP14:
SP15: - - - -
SP16: - - - - - - - - - - - -
SP17: - - - - - - - - - -
SP18:
SP19:
SP20: - - - - -
SP21: -

ExUns: 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c · 18d
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5: - - - - -
SP6: - -
SP7: -
SP8: - - - -
SP9: - -
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for ECHDC2 Gene

GeneLoc Exon Structure for
ECHDC2
ECgene alternative splicing isoforms for
ECHDC2

Expression for ECHDC2 Gene

mRNA expression in normal human tissues for ECHDC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ECHDC2 Gene

This gene is overexpressed in Liver (x7.8).

Protein differential expression in normal tissues from HIPED for ECHDC2 Gene

This gene is overexpressed in Liver, secretome (37.0) and Liver (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ECHDC2 Gene



SOURCE GeneReport for Unigene cluster for ECHDC2 Gene Hs.476319

genes like me logo Genes that share expression patterns with ECHDC2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ECHDC2 Gene

Orthologs for ECHDC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ECHDC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ECHDC2 35
  • 87.67 (n)
  • 88.7 (a)
-- 36
  • 52 (a)
OneToMany
ECHDC2 36
  • 88 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ECHDC2 35
  • 86.64 (n)
  • 86.6 (a)
mouse
(Mus musculus)
Mammalia Echdc2 35
  • 84.13 (n)
  • 86.3 (a)
Echdc2 16
Echdc2 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ECHDC2 35
  • 98.17 (n)
  • 97.94 (a)
ECHDC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Echdc2 35
  • 85.17 (n)
  • 86.9 (a)
oppossum
(Monodelphis domestica)
Mammalia ECHDC2 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 31 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ECHDC2 35
  • 69.96 (n)
  • 77.95 (a)
ECHDC2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECHDC2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia echdc2 35
  • 64.56 (n)
  • 70.63 (a)
zebrafish
(Danio rerio)
Actinopterygii echdc2 35
  • 64.36 (n)
  • 66.06 (a)
wufc83b02 35
echdc2 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8778 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ech-5 36
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3883 36
  • 24 (a)
ManyToMany
Species with no ortholog for ECHDC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ECHDC2 Gene

ENSEMBL:
Gene Tree for ECHDC2 (if available)
TreeFam:
Gene Tree for ECHDC2 (if available)

Paralogs for ECHDC2 Gene

Paralogs for ECHDC2 Gene

(4) SIMAP similar genes for ECHDC2 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for ECHDC2 Gene

genes like me logo Genes that share paralogs with ECHDC2: view

Variants for ECHDC2 Gene

Sequence variations from dbSNP and Humsavar for ECHDC2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs17854314 - 52,907,877(+) GTCAT(C/T)CATCA nc-transcript-variant, reference, missense
rs9345 -- 52,907,524(+) gaggg(A/C)ttgaa intron-variant
rs476965 -- 52,908,566(-) agata(C/T)atgat intron-variant
rs495985 -- 52,898,377(+) cacca(C/T)gcctg intron-variant, downstream-variant-500B
rs501006 -- 52,902,620(+) TTCAA(A/T)ATATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ECHDC2 Gene

Variant ID Type Subtype PubMed ID
nsv871800 CNV Loss 21882294
nsv829859 CNV Loss 17160897
nsv870582 CNV Gain 21882294

Variation tolerance for ECHDC2 Gene

Residual Variation Intolerance Score: 63.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.82% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ECHDC2 Gene

Disorders for ECHDC2 Gene

Relevant External Links for ECHDC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECHDC2

No disorders were found for ECHDC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ECHDC2 Gene

Publications for ECHDC2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for ECHDC2 Gene

Sources for ECHDC2 Gene

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