Aliases for ECHDC2 Gene

Aliases for ECHDC2 Gene

  • Enoyl-CoA Hydratase Domain Containing 2 2 3 5
  • Enoyl-CoA Hydratase Domain-Containing Protein 2, Mitochondrial 3 4
  • Enoyl Coenzyme A Hydratase Domain Containing 2 2 3
  • FLJ10948 2
  • ECHDC2 5

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. Diseases associated with ECHDC2 include 3-Methylglutaconic Aciduria, Type I and Cervical Adenosquamous Carcinoma. Among its related pathways are Fatty Acid Biosynthesis (WikiPathways). Gene Ontology (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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECHDC2 Gene

Genomics for ECHDC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ECHDC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECHDC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ECHDC2

Top Transcription factor binding sites by QIAGEN in the ECHDC2 gene promoter:
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for ECHDC2 Gene

Genomic Locations for ECHDC2 Gene
chr1:52,895,910-52,927,212
(GRCh38/hg38)
Size:
31,303 bases
Orientation:
Minus strand
chr1:53,361,582-53,392,884
(GRCh37/hg19)
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

Protein Domains for ECHDC2 Gene

InterPro:
Blocks:
  • Enoyl-CoA hydratase/isomerase
ProtoNet:

Suggested Antigen Peptide Sequences for ECHDC2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52213, moderately similar to Mus musculus enoyl Coenzyme A hydratase domain containing 2 (Echdc2), mRNA (B4DSN9_HUMAN)
  • cDNA FLJ52450, highly similar to Mus musculus enoyl Coenzyme A hydratase domain containing 2 (Echdc2), mRNA (B7Z7N0_HUMAN)
  • Enoyl-CoA hydratase domain-containing protein 2, mitochondrial (ECHD2_HUMAN)
  • ECHDC2 protein (Q86V13_HUMAN)

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

Phenotypes From GWAS Catalog for ECHDC2 Gene

Gene Ontology (GO) - Molecular Function for ECHDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004300 enoyl-CoA hydratase activity IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECHDC2

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 4
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 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 21873635
genes like me logo Genes that share ontologies with ECHDC2: view

Pathways & Interactions for ECHDC2 Gene

PathCards logo

SuperPathways 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 21873635
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

mRNA/cDNA for ECHDC2 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECHDC2

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

Expression for ECHDC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for ECHDC2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ECHDC2

SOURCE GeneReport for Unigene cluster for ECHDC2 Gene:

Hs.476319

Evidence on tissue expression from TISSUES for ECHDC2 Gene

  • Liver(4.6)
  • Nervous system(4.5)
  • Skin(2.4)
  • Thyroid gland(2.3)
  • Kidney(2.3)
  • Muscle(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with ECHDC2: view

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 30 31
  • 98.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ECHDC2 30 31
  • 87.67 (n)
OneToMany
-- 31
  • 52 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia ECHDC2 30
  • 86.64 (n)
Rat
(Rattus norvegicus)
Mammalia Echdc2 30
  • 85.17 (n)
Mouse
(Mus musculus)
Mammalia Echdc2 30 17 31
  • 84.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ECHDC2 31
  • 50 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 31 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves ECHDC2 30 31
  • 69.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ECHDC2 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia echdc2 30
  • 64.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii echdc2 30 31
  • 64.36 (n)
OneToOne
wufc83b02 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG8778 31
  • 51 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ech-5 31
  • 48 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3883 31
  • 24 (a)
ManyToMany
Species where no ortholog for ECHDC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ECHDC2: view image

Paralogs for ECHDC2 Gene

Paralogs for ECHDC2 Gene

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

  • ECHD2_HUMAN
  • B4DSN9_HUMAN
  • B7Z7N0_HUMAN
  • F5GWU3_HUMAN
  • F5H0R2_HUMAN
  • F5H2K9_HUMAN
  • F5H408_HUMAN
  • F5H4W3_HUMAN
  • Q86V13_HUMAN

Pseudogenes.org Pseudogenes for ECHDC2 Gene

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

Variants for ECHDC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ECHDC2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs17854314 - p.Asn119Asp

Additional dbSNP identifiers (rs#s) for ECHDC2 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for ECHDC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type i
  • mgca1
cervical adenosquamous carcinoma
  • adenosquamous carcinoma of cervix
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ECHDC2: view

No data available for 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
  2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  5. 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

Products for ECHDC2 Gene

Sources for ECHDC2 Gene