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Aliases for ECI2 Gene

Aliases for ECI2 Gene

  • Enoyl-CoA Delta Isomerase 2 2 3
  • Hepatocellular Carcinoma-Associated Antigen 88 2 3 4
  • Diazepam-Binding Inhibitor-Related Protein 1 3 4
  • Acyl-Coenzyme A Binding Domain Containing 2 2 3
  • Peroxisomal 3,2-Trans-Enoyl-CoA Isomerase 3 4
  • Peroxisomal D3,D2-Enoyl-CoA Isomerase 2 3
  • Delta(3),Delta(2)-Enoyl-CoA Isomerase 3 4
  • Renal Carcinoma Antigen NY-REN-1 3 4
  • D3,D2-Enoyl-CoA Isomerase 3 4
  • Dodecenoyl-CoA Isomerase 3 4
  • DBI-Related Protein 1 3 4
  • DRS-1 3 4
  • HCA88 3 4
  • PECI 3 4
  • DRS1 3 4
  • Enoyl-CoA Delta Isomerase 2, Mitochondrial 3
  • DJ1013A10.3 3
  • EC 5.3.3.8 4
  • ACBD2 3

External Ids for ECI2 Gene

Previous Symbols for ECI2 Gene

  • PECI

Summaries for ECI2 Gene

Entrez Gene Summary for ECI2 Gene

  • This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

GeneCards Summary for ECI2 Gene

ECI2 (Enoyl-CoA Delta Isomerase 2) is a Protein Coding gene. Diseases associated with ECI2 include hepatocellular carcinoma and aplastic anemia. Among its related pathways are Peroxisome and Fatty acid metabolism. GO annotations related to this gene include receptor binding and dodecenoyl-CoA delta-isomerase activity. An important paralog of this gene is CDY1B.

UniProtKB/Swiss-Prot for ECI2 Gene

  • Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates (By similarity).

Gene Wiki entry for ECI2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECI2 Gene

Genomics for ECI2 Gene

Genomic Location for ECI2 Gene

Start:
4,115,689 bp from pter
End:
4,135,597 bp from pter
Size:
19,909 bases
Orientation:
Minus strand

Genomic View for ECI2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ECI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECI2 Gene

No data available for Regulatory Elements for ECI2 Gene

Proteins for ECI2 Gene

  • Protein details for ECI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75521-ECI2_HUMAN
    Recommended name:
    Enoyl-CoA delta isomerase 2, mitochondrial
    Protein Accession:
    O75521
    Secondary Accessions:
    • Q5JYK5
    • Q5JYK7
    • Q7L124
    • Q8N0X0
    • Q9BUE9
    • Q9H0T9
    • Q9NQH1
    • Q9NYH7
    • Q9UN55

    Protein attributes for ECI2 Gene

    Size:
    394 amino acids
    Molecular mass:
    43585 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC19317.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAD34173.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF66247.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH02668.3; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH16781.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH17474.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH33841.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH34702.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG52068.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ECI2 Gene

    Alternative splice isoforms for ECI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECI2 Gene

Proteomics data for ECI2 Gene at MOPED

Post-translational modifications for ECI2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys92

No data available for DME Specific Peptides for ECI2 Gene

Domains for ECI2 Gene

UniProtKB/Swiss-Prot:

ECI2_HUMAN
Domain:
  • Contains 1 ACB (acyl-CoA-binding) domain.:
    • O75521
Family:
  • In the C-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.:
    • O75521
genes like me logo Genes that share domains with ECI2: view

No data available for Gene Families for ECI2 Gene

Function for ECI2 Gene

Molecular function for ECI2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: (3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl-CoA
UniProtKB/Swiss-Prot Function: Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates (By similarity).

Enzyme Numbers (IUBMB) for ECI2 Gene

Gene Ontology (GO) - Molecular Function for ECI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0003824 catalytic activity --
GO:0004165 dodecenoyl-CoA delta-isomerase activity IEA --
GO:0005102 receptor binding IPI 20178365
genes like me logo Genes that share ontologies with ECI2: view

miRNA for ECI2 Gene

miRTarBase miRNAs that target ECI2

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ECI2 Gene

Localization for ECI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECI2 Gene

Isoform 1: Mitochondrion.
Isoform 2: Peroxisome matrix.

Gene Ontology (GO) - Cellular Components for ECI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005777 peroxisome --
GO:0005782 peroxisomal matrix IEA --
genes like me logo Genes that share ontologies with ECI2: view

Pathways for ECI2 Gene

SuperPathways for ECI2 Gene

Superpath Contained pathways
1 Peroxisome
2 Fatty acid metabolism
genes like me logo Genes that share pathways with ECI2: view

Pathways by source for ECI2 Gene

2 KEGG pathways for ECI2 Gene

Gene Ontology (GO) - Biological Process for ECI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0009062 fatty acid catabolic process IDA 10419495
genes like me logo Genes that share ontologies with ECI2: view

Transcripts for ECI2 Gene

Unigene Clusters for ECI2 Gene

Enoyl-CoA delta isomerase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ECI2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1:
SP2: - - - - - -
SP3:
SP4: -
SP5: - - -

Relevant External Links for ECI2 Gene

GeneLoc Exon Structure for
ECI2
ECgene alternative splicing isoforms for
ECI2

Expression for ECI2 Gene

mRNA expression in normal human tissues for ECI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ECI2 Gene

SOURCE GeneReport for Unigene cluster for ECI2 Gene Hs.15250

mRNA Expression by UniProt/SwissProt for ECI2 Gene

O75521-ECI2_HUMAN
Tissue specificity: Abundant in heart, skeletal muscle and liver. Expressed in CD34(+) T-cells and CD34(+) bone marrow cells.
genes like me logo Genes that share expressions with ECI2: view

Orthologs for ECI2 Gene

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

Orthologs for ECI2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ECI2 36
  • 98.98 (n)
  • 98.21 (a)
ECI2 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ECI2 36
  • 75.24 (n)
  • 75.06 (a)
PECI 37
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ECI2 36
  • 83.2 (n)
  • 80.65 (a)
ECI2 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eci2 36
  • 78.77 (n)
  • 73.4 (a)
Eci2 16
Eci2 37
  • 73 (a)
OneToMany
Eci3 37
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ECI2 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECI2 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eci2 36
  • 78.35 (n)
  • 74.42 (a)
chicken
(Gallus gallus)
Aves ECI2 36
  • 67.01 (n)
  • 65.98 (a)
ECI2 37
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECI2 37
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14349 36
tropical clawed frog
(Silurana tropicalis)
Amphibia eci2 36
  • 66.2 (n)
  • 64.99 (a)
Str.13785 36
zebrafish
(Danio rerio)
Actinopterygii eci2 37
  • 60 (a)
OneToOne
zgc:92030 36
  • 62.72 (n)
  • 62.63 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13890 37
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0272.4 37
  • 38 (a)
OneToMany
ech-4 36
  • 52.41 (n)
  • 47.88 (a)
ech-4 37
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DCI1 37
  • 27 (a)
ManyToMany
ECI1 37
  • 22 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.414 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2179 37
  • 47 (a)
OneToOne
Species with no ortholog for ECI2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 ECI2 Gene

ENSEMBL:
Gene Tree for ECI2 (if available)
TreeFam:
Gene Tree for ECI2 (if available)

Paralogs for ECI2 Gene

Paralogs for ECI2 Gene

Selected SIMAP similar genes for ECI2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ECI2: view

Variants for ECI2 Gene

Sequence variations from dbSNP and Humsavar for ECI2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs608917 -- 4,132,528(+) CACAC(C/G)CATAT intron-variant
rs622859 -- 4,133,313(+) atatt(A/G)tatct intron-variant
rs656694 -- 4,132,796(+) gtctc(A/G)ctctg intron-variant
rs853421 -- 4,133,532(+) ACGTT(C/G)GACCG intron-variant
rs853422 -- 4,133,797(+) ACATA(A/C)CAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ECI2 Gene

Variant ID Type Subtype PubMed ID
esv2422231 CNV Deletion 17116639
esv2422457 CNV Deletion 17116639

Relevant External Links for ECI2 Gene

HapMap Linkage Disequilibrium report
ECI2

Disorders for ECI2 Gene

genes like me logo Genes that share disorders with ECI2: view

No data available for UniProtKB/Swiss-Prot for ECI2 Gene

Publications for ECI2 Gene

  1. Characterization of PECI, a novel monofunctional D3,D2-enoyl-CoA isomerase of mammalian peroxisomes. (PMID: 10419495) Geisbrecht B.V. … Gould S.J. (J. Biol. Chem. 1999) 2 3 4 23
  2. Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells. (PMID: 15217832) Feng X. … Nakao S. (Blood 2004) 3 4 23
  3. Molecular cloning and expression of a novel human cDNA related to the diazepam binding inhibitor. (PMID: 10354522) Suk K. … Lee M.-S. (Biochim. Biophys. Acta 1999) 3 4
  4. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 3 4
  5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4

Products for ECI2 Gene

Sources for ECI2 Gene

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