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Aliases for ECI2 Gene

Aliases for ECI2 Gene

  • Enoyl-CoA Delta Isomerase 2 2 3 5
  • 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
  • Delta(3),Delta(2)-Enoyl-CoA Isomerase 3 4
  • Peroxisomal D3,D2-Enoyl-CoA Isomerase 2 3
  • 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
  • DRS1 3 4
  • PECI 3 4
  • Enoyl-CoA Delta Isomerase 2, Mitochondrial 3
  • Testicular Secretory Protein Li 33 3
  • DJ1013A10.3 3
  • EC 5.3.3.8 4
  • ACBD2 3

External Ids for ECI2 Gene

Previous HGNC 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 Moyamoya Disease. Among its related pathways are Metabolism and Peroxisome. 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

Regulatory Elements for ECI2 Gene

Enhancers for ECI2 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
GH06F004110 0.6 Ensembl 12.3 +25.5 25497 0.2 LOC100507506 ECI2 ENSG00000254821 FAM217A C6orf201 GC06P004125 GC06M004088
GH06F004109 0.2 ENCODE 12.3 +25.9 25916 0.2 ELF3 INSM2 FEZF1 ZNF2 ZNF366 KLF7 ZNF391 ZNF362 OVOL3 TSHZ1 LOC100507506 ECI2 ENSG00000254821 FAM217A C6orf201 GC06P004125 GC06M004088
GH06F004057 0.7 Ensembl ENCODE 11.9 +76.4 76372 2.9 ELF3 ARID4B DMAP1 ZSCAN9 RAD21 RARA SLC30A9 FOS SMARCA5 POLR2H ENSG00000230648 ECI2 ENSG00000254821 LOC100507506 PRPF4B FAM217A ENSG00000272248 GC06M004066 GC06M004041
GH06F004091 0.8 ENCODE 11.5 +43.8 43790 1.5 NFIL3 NFYB CEBPA HLF NFYC ZBTB33 CEBPG ECI2 ENSG00000254821 LOC100507506 C6orf201 ENSG00000230648 GC06M004088 GC06P004125
GH06F004103 0.5 ENCODE 11.5 +31.5 31518 0.4 C6orf201 LOC100507506 ECI2 ENSG00000254821 GC06M004088 GC06P004125
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ECI2 on UCSC Golden Path with GeneCards custom track

Promoters for ECI2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001209538 197 2401 HDGF CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766
ENSR00001877660 1697 201 HDGF BCOR CBX3 SAP130 TAL1 RELA ZNF7 ZFHX2 POLR2A NCOR1

Genomic Location for ECI2 Gene

Chromosome:
6
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

Genes around ECI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for ECI2 Gene

  • Ubiquitination at Lys 92
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ECI2 Gene

Domains & Families for ECI2 Gene

Suggested Antigen Peptide Sequences for ECI2 Gene

Graphical View of Domain Structure for InterPro Entry

O75521

UniProtKB/Swiss-Prot:

ECI2_HUMAN :
  • Contains 1 ACB (acyl-CoA-binding) domain.
  • In the C-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.
Domain:
  • Contains 1 ACB (acyl-CoA-binding) domain.
Family:
  • In the C-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.
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 IEA --
GO:0004165 dodecenoyl-CoA delta-isomerase activity EXP,IEA 10419495
GO:0005102 receptor binding IPI 20178365
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with ECI2: view
genes like me logo Genes that share phenotypes with ECI2: view

Animal Model Products

miRNA for ECI2 Gene

miRTarBase miRNAs that target ECI2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ECI2 Gene COMPARTMENTS Subcellular localization image for ECI2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 5
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ECI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005777 peroxisome IEA --
GO:0005782 peroxisomal matrix IEA,TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ECI2: view

Pathways & Interactions for ECI2 Gene

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

Pathways by source for ECI2 Gene

Gene Ontology (GO) - Biological Process for ECI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation IEA --
GO:0008152 metabolic process IEA --
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with ECI2: view

No data available for SIGNOR curated interactions for ECI2 Gene

Drugs & Compounds for ECI2 Gene

(2) Drugs for ECI2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MYRISTIC ACID Experimental Pharma Target 0
Propionyl-CoA Experimental Pharma 0

(33) Additional Compounds for ECI2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with ECI2: view

Transcripts for ECI2 Gene

Unigene Clusters for ECI2 Gene

Enoyl-CoA delta isomerase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for ECI2 Gene

This gene is overexpressed in Fetal ovary (8.0), Heart (6.7), and Liver (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ECI2 Gene



Protein tissue co-expression partners for ECI2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ECI2 Gene:

ECI2

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 expression patterns with ECI2: view

Primer Products

No data available for mRNA differential expression in normal tissues for ECI2 Gene

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 34 35
  • 98.98 (n)
dog
(Canis familiaris)
Mammalia ECI2 34 35
  • 83.2 (n)
mouse
(Mus musculus)
Mammalia Eci2 34 16 35
  • 78.77 (n)
Eci3 35
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Eci2 34
  • 78.35 (n)
cow
(Bos Taurus)
Mammalia PECI 35
  • 76 (a)
OneToOne
ECI2 34
  • 75.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ECI2 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECI2 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECI2 34 35
  • 67.01 (n)
lizard
(Anolis carolinensis)
Reptilia ECI2 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eci2 34
  • 66.2 (n)
Str.13785 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.14349 34
zebrafish
(Danio rerio)
Actinopterygii zgc:92030 34
  • 62.72 (n)
eci2 35
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13890 35
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ech-4 34 35
  • 52.41 (n)
B0272.4 35
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DCI1 35
  • 27 (a)
ManyToMany
ECI1 35
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2179 35
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.414 34
Species where no ortholog for ECI2 was found in the sources mined by GeneCards:
  • 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

(11) 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
rs10085196 -- 4,131,746(+) cagct(A/G)cttgg intron-variant
rs10708 -- 4,119,258(-) ACACC(A/G)TTTAG intron-variant, nc-transcript-variant, reference, synonymous-codon
rs111257254 -- 4,116,282(+) GGAGG(C/T)GGAGG intron-variant
rs111259491 -- 4,127,910(+) GTCAG(G/T)CTGCA intron-variant
rs111367400 -- 4,129,113(+) TCCTC(-/CCTT)CCTTC 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
nsv1074367 CNV deletion 25765185
nsv1140599 CNV deletion 24896259

Variation tolerance for ECI2 Gene

Residual Variation Intolerance Score: 79.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.19; 93.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECI2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECI2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECI2 Gene

Disorders for ECI2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ECI2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
moyamoya disease
  • moyamoya disease 3
- elite association - COSMIC cancer census association via MalaCards
Search ECI2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ECI2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECI2
genes like me logo Genes that share disorders with ECI2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  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 22 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64

Products for ECI2 Gene

Sources for ECI2 Gene

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