Free for academic non-profit institutions. Other users need a Commercial license

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 AUH.

Additional gene information for ECHDC2 Gene

No data available for Entrez Gene Summary , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H053835 1.2 ENCODE 18.3 -909.9 -909919 4 MLX DMAP1 YBX1 YY1 ZNF143 SP3 ZC3H11A MEF2D ZNF610 GLIS1 SSBP3-AS1 MAGOH HSPB11 LRRC42 ECHDC2 NDC1 ENSG00000256407 CYB5RL C1orf123 ENSG00000279049
GH01H052631 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10 +291.9 291860 8 HDGF PKNOX1 SIN3A YBX1 ZNF766 ZNF207 ATF7 RUNX3 CAVIN1 JUNB ZCCHC11 GPX7 MAGOH PRPF38A ENSG00000230953 ENSG00000272100 CC2D1B ECHDC2 FAM159A GC01P052637
GH01H052926 0.9 ENCODE 17.9 -0.3 -307 1 HDAC1 TBP MLX ARID4B SIN3A DMAP1 ZSCAN9 RAD21 RARA YY1 ECHDC2 COA7 SLC1A7 SCP2 MIR1273F
GH01H052842 1.1 ENCODE 13.4 +83.4 83378 3 PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF143 ZNF207 SP3 MXD4 REST ZCCHC11 PRPF38A NDC1 MAGOH ECHDC2 ENSG00000272100 ENSG00000230953 ZFYVE9 ZYG11B ORC1
GH01H053237 1.4 FANTOM5 ENCODE 10 -311.4 -311387 2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 C1orf123 MAGOH NDC1 CYB5RL ZCCHC11 ENSG00000230953 SSBP3-AS1 ENSG00000236723 LINC01771 LRP8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000006442 -388 1201 HDAC1 TBP MLX ARID4B SIN3A DMAP1 ZSCAN9 RAD21 RARA YY1

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

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

Gene Families for ECHDC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for ECHDC2 Gene

Gene Ontology (GO) - Molecular Function for ECHDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004300 enoyl-CoA hydratase activity IBA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with ECHDC2: view
genes like me logo Genes that share phenotypes with ECHDC2: view

Animal Model Products

CRISPR Products

miRNA for ECHDC2 Gene

miRTarBase miRNAs that target ECHDC2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ECHDC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECHDC2 gene
Compartment Confidence
mitochondrion 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ECHDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with ECHDC2: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IBA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ECHDC2: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ECHDC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of ECHDC2 Gene:

ECHDC2

SOURCE GeneReport for Unigene cluster for ECHDC2 Gene:

Hs.476319

Evidence on tissue expression from TISSUES for ECHDC2 Gene

  • Liver(4.5)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ECHDC2: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ECHDC2 33 34
  • 98.17 (n)
cow
(Bos Taurus)
Mammalia ECHDC2 33 34
  • 87.67 (n)
-- 34
  • 52 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ECHDC2 33
  • 86.64 (n)
rat
(Rattus norvegicus)
Mammalia Echdc2 33
  • 85.17 (n)
mouse
(Mus musculus)
Mammalia Echdc2 33 16 34
  • 84.13 (n)
oppossum
(Monodelphis domestica)
Mammalia ECHDC2 34
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 31 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ECHDC2 33 34
  • 69.96 (n)
lizard
(Anolis carolinensis)
Reptilia ECHDC2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia echdc2 33
  • 64.56 (n)
zebrafish
(Danio rerio)
Actinopterygii echdc2 33 34
  • 64.36 (n)
wufc83b02 33
fruit fly
(Drosophila melanogaster)
Insecta CG8778 34
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ech-5 34
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3883 34
  • 24 (a)
ManyToMany
Species where no ortholog for ECHDC2 was found in the sources mined by GeneCards:
  • 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
rs1000106647 -- 52,906,921(+) CACCA(C/T)GCCCA intron-variant
rs1000110775 -- 52,899,712(+) CTCTG(C/T)GGTAA intron-variant
rs1000158891 -- 52,903,813(+) TCTTT(C/G)TTTCT intron-variant
rs1000175850 -- 52,910,920(+) GACTA(C/T)AGGAA intron-variant
rs1000307408 -- 52,924,612(+) CAGAG(A/G)TCTCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv3586056 CNV loss 21293372
nsv1001535 CNV gain 25217958
nsv829859 CNV loss 17160897
nsv945950 CNV duplication 23825009

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)

Relevant External Links for ECHDC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECHDC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 (Nature genetics 2004) 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 60
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 60

Products for ECHDC2 Gene

Sources for ECHDC2 Gene

Content
Loading form....