Aliases for ECHDC3 Gene

Aliases for ECHDC3 Gene

  • Enoyl-CoA Hydratase Domain Containing 3 2 3 5
  • Enoyl-CoA Hydratase Domain-Containing Protein 3, Mitochondrial 3 4
  • Enoyl Coenzyme A Hydratase Domain Containing 3 2 3
  • Testis Tissue Sperm-Binding Protein Li 76m 3

External Ids for ECHDC3 Gene

Previous GeneCards Identifiers for ECHDC3 Gene

  • GC10P011788
  • GC10P011824
  • GC10P011702
  • GC10P011784

Summaries for ECHDC3 Gene

GeneCards Summary for ECHDC3 Gene

ECHDC3 (Enoyl-CoA Hydratase Domain Containing 3) is a Protein Coding gene. Among its related pathways are Fatty Acid Biosynthesis (WikiPathways). An important paralog of this gene is ECHS1.

Additional gene information for ECHDC3 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECHDC3 Gene

Genomics for ECHDC3 Gene

GeneHancer (GH) Regulatory Elements for ECHDC3 Gene

Promoters and enhancers for ECHDC3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J011741 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 779 +0.3 344 2.2 POLR2A L3MBTL2 MNT ZFX SP1 NCOA6 ZNF687 ZNF639 GMEB1 RXRA ECHDC3 UPF2 piR-57460-036
GH10J011606 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -132.4 -132362 6.4 ZNF24 ZBTB40 SMARCE1 POLR2A ZNF217 ZNF362 MYC CC2D1A ELF1 RELA USP6NL ENSG00000271360 ENSG00000228302 ECHDC3 CELF2 piR-60349 lnc-UPF2-5
GH10J011698 Enhancer 1.1 Ensembl ENCODE 18.7 -44.4 -44356 5.2 SP1 MLX RBPJ NR2F1 NR2F6 CREB1 MIXL1 ETV6 RELA RAD21 ECHDC3 USP6NL piR-31534-047 lnc-ECHDC3-3
GH10J011756 Enhancer 1.1 Ensembl ENCODE 16.1 +15.6 15631 2.9 CTCF MLX FOXA1 SMARCE1 NR2F6 ZNF362 CC2D1A ELF1 DACH1 RAD21 piR-57460-036 ECHDC3
GH10J011797 Enhancer 0.8 Ensembl ENCODE 21.3 +56.2 56236 3.2 ZNF121 SP1 CEBPG IKZF1 CEBPA RFX1 ZNF316 SOX13 GABPA YY1 ECHDC3 UPF2 HSALNG0076189 piR-35674-036
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECHDC3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ECHDC3 Gene

Genomic Locations for ECHDC3 Gene
21,714 bases
Plus strand
21,714 bases
Plus strand

Genomic View for ECHDC3 Gene

Genes around ECHDC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECHDC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECHDC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECHDC3 Gene

Proteins for ECHDC3 Gene

  • Protein details for ECHDC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Enoyl-CoA hydratase domain-containing protein 3, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q53HR9
    • Q5W0J7
    • Q8WYY8
    • Q9BVL8
    • Q9H7G4

    Protein attributes for ECHDC3 Gene

    303 amino acids
    Molecular mass:
    32634 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB14928.1; Type=Erroneous termination; Positions=230; Note=Translated as Gln.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ECHDC3 Gene

    Alternative splice isoforms for ECHDC3 Gene


neXtProt entry for ECHDC3 Gene

Post-translational modifications for ECHDC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ECHDC3 Gene

No data available for DME Specific Peptides for ECHDC3 Gene

Domains & Families for ECHDC3 Gene

Gene Families for ECHDC3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ECHDC3 Gene

Suggested Antigen Peptide Sequences for ECHDC3 Gene

GenScript: Design optimal peptide antigens:
  • Enoyl-CoA hydratase domain-containing protein 3, mitochondrial (ECHD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the enoyl-CoA hydratase/isomerase family.
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with ECHDC3: view

Function for ECHDC3 Gene

Phenotypes From GWAS Catalog for ECHDC3 Gene

Gene Ontology (GO) - Molecular Function for ECHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
genes like me logo Genes that share ontologies with ECHDC3: view
genes like me logo Genes that share phenotypes with ECHDC3: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ECHDC3 Gene

Localization for ECHDC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECHDC3 Gene


Subcellular locations from

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 ECHDC3 gene
Compartment Confidence
mitochondrion 4
nucleus 2
peroxisome 1
cytosol 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ECHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with ECHDC3: view

Pathways & Interactions for ECHDC3 Gene

PathCards logo

SuperPathways for ECHDC3 Gene

genes like me logo Genes that share pathways with ECHDC3: view

Pathways by source for ECHDC3 Gene

1 BioSystems pathway for ECHDC3 Gene

Interacting Proteins for ECHDC3 Gene

Gene Ontology (GO) - Biological Process for ECHDC3 Gene


No data available for SIGNOR curated interactions for ECHDC3 Gene

Drugs & Compounds for ECHDC3 Gene

No Compound Related Data Available

Transcripts for ECHDC3 Gene

mRNA/cDNA for ECHDC3 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ECHDC3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5
SP1: - - - -
SP4: -

Relevant External Links for ECHDC3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ECHDC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ECHDC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ECHDC3 Gene

This gene is overexpressed in Liver (x6.8) and Muscle - Skeletal (x5.4).

Protein differential expression in normal tissues from HIPED for ECHDC3 Gene

This gene is overexpressed in Salivary gland (22.8), Liver (13.5), and Kidney (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ECHDC3 Gene

Protein tissue co-expression partners for ECHDC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ECHDC3 Gene:


SOURCE GeneReport for Unigene cluster for ECHDC3 Gene:


Evidence on tissue expression from TISSUES for ECHDC3 Gene

  • Liver(4.3)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with ECHDC3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ECHDC3 Gene

Orthologs for ECHDC3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ECHDC3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ECHDC3 33 32
  • 99.11 (n)
(Bos Taurus)
Mammalia ECHDC3 33 32
  • 83.62 (n)
(Canis familiaris)
Mammalia ECHDC3 33 32
  • 83.28 (n)
(Rattus norvegicus)
Mammalia Echdc3 32
  • 81.33 (n)
(Mus musculus)
Mammalia Echdc3 17 33 32
  • 80.56 (n)
(Monodelphis domestica)
Mammalia ECHDC3 33
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia ECHDC3 33
  • 73 (a)
(Gallus gallus)
Aves ECHDC3 33 32
  • 68.25 (n)
(Anolis carolinensis)
Reptilia ECHDC3 33
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia echdc3 32
  • 64.98 (n)
(Danio rerio)
Actinopterygii echdc3 32
  • 65.88 (n)
Dr.16957 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010403 32
  • 56.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6984 33 32
  • 52.88 (n)
(Caenorhabditis elegans)
Secernentea ech-2 33 32
  • 51.26 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECI1 33
  • 21 (a)
DCI1 33
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 38 (a)
Species where no ortholog for ECHDC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 ECHDC3 Gene

Gene Tree for ECHDC3 (if available)
Gene Tree for ECHDC3 (if available)
Evolutionary constrained regions (ECRs) for ECHDC3: view image

Paralogs for ECHDC3 Gene

Paralogs for ECHDC3 Gene

(4) SIMAP similar genes for ECHDC3 Gene using alignment to 3 proteins:

  • Q5W0J6_HUMAN
  • Q5W0J8_HUMAN
genes like me logo Genes that share paralogs with ECHDC3: view

Variants for ECHDC3 Gene

Sequence variations from dbSNP and Humsavar for ECHDC3 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000553969 -- 11,759,785(+) G/C intron_variant
rs1000606317 -- 11,759,542(+) G/T intron_variant
rs1000626996 -- 11,755,168(+) AAAAAAAA/AAAAAAA intron_variant
rs1000929243 -- 11,748,667(+) C/G intron_variant
rs1000980113 -- 11,748,841(+) G/A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ECHDC3 Gene

Variant ID Type Subtype PubMed ID
nsv473571 CNV novel sequence insertion 20440878

Variation tolerance for ECHDC3 Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.00; 74.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ECHDC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECHDC3 Gene

Disorders for ECHDC3 Gene

Additional Disease Information for ECHDC3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ECHDC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ECHDC3 Gene

Publications for ECHDC3 Gene

  1. The relationship of the oleic acid level and ECHDC3 mRNA expression with the extent of coronary lesion. (PMID: 27586541) Duarte MK … Silbiger VN (Lipids in health and disease 2016) 2 3 56
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  3. Transethnic genome-wide scan identifies novel Alzheimer's disease loci. (PMID: 28183528) Jun GR … Farrer LA (Alzheimer's & dementia : the journal of the Alzheimer's Association 2017) 3 56
  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 56
  5. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. (PMID: 24162737) Lambert JC … Amouyel P (Nature genetics 2013) 3 56

Products for ECHDC3 Gene

Sources for ECHDC3 Gene