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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 1. Among its related pathways are Peroxisomal lipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include receptor binding and dodecenoyl-CoA delta-isomerase activity. An important paralog of this gene is CDYL.

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

Additional gene information for ECI2 Gene

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

Genomics for ECI2 Gene

GeneHancer (GH) Regulatory Elements for ECI2 Gene

Promoters and enhancers for ECI2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I004133 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 559.7 +0.4 367 3.8 HDGF SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ECI2 ENSG00000254821 LOC100507506 C6orf201 FAM217A GC06P004132
GH06I004057 Enhancer 0.9 Ensembl ENCODE 11.9 +76.4 76371 2.9 ELF3 SAP130 JUN ARID4B MAX RAD21 RARA FOSL1 POLR2A FOSL2 ENSG00000230648 ECI2 ENSG00000254821 LOC100507506 PRPF4B FAM217A ENSG00000272248 GC06M004066 GC06M004041
GH06I004109 Enhancer 0.8 ENCODE 12.3 +25.9 25915 0.2 ELF3 INSM2 FEZF1 ZNF2 ZNF213 ZNF366 ZSCAN5C ZNF350 KLF7 ZNF391 C6orf201 LOC100507506 ECI2 ENSG00000254821 FAM217A PSMG4 PRPF4B GC06P004125 GC06M004088
GH06I004125 Enhancer 0.8 ENCODE 9.4 +9.3 9267 2.1 BATF RAD21 RARA ETS1 FOS RXRA CEBPB NFIL3 SSRP1 CEBPA GC06P004125 C6orf201 ECI2 GC06P004132
GH06I004091 Enhancer 0.5 ENCODE 11.5 +43.8 43789 1.5 NFIL3 HLF CEBPA NFYC CEBPG ZBTB33 LOC100507506 ECI2 ENSG00000254821 C6orf201 ENSG00000230648 GC06M004088 GC06P004125
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ECI2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ECI2 Gene

Genomic Locations for ECI2 Gene
chr6:4,115,689-4,135,597
(GRCh38/hg38)
Size:
19,909 bases
Orientation:
Minus strand
chr6:4,115,923-4,135,831
(GRCh37/hg19)

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 posLast=9292
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ECI2
  • Santa Cruz Biotechnology (SCBT) Antibodies for ECI2

No data available for DME Specific Peptides for ECI2 Gene

Domains & Families for ECI2 Gene

Gene Families for ECI2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ECI2 Gene

Graphical View of Domain Structure for InterPro Entry

O75521

UniProtKB/Swiss-Prot:

ECI2_HUMAN :
  • In the C-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.
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

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

Phenotypes From GWAS Catalog 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 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

Clone 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
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 ECI2 gene
Compartment Confidence
mitochondrion 5
peroxisome 5
nucleus 5
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IDA --
GO:0005782 peroxisomal matrix IEA,TAS --
GO:0016020 membrane IDA,HDA 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:0033540 fatty acid beta-oxidation using acyl-CoA oxidase 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

(3) 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
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(32) 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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for ECI2 Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Pancreas(4.3)
  • Bone marrow(4.2)
  • Skin(4.2)
  • Kidney(2.3)
  • Muscle(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with ECI2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.98 (n)
dog
(Canis familiaris)
Mammalia ECI2 33 34
  • 83.2 (n)
mouse
(Mus musculus)
Mammalia Eci2 33 16 34
  • 78.77 (n)
Eci3 34
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Eci2 33
  • 78.35 (n)
cow
(Bos Taurus)
Mammalia PECI 34
  • 76 (a)
OneToOne
ECI2 33
  • 75.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ECI2 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECI2 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECI2 33 34
  • 67.01 (n)
lizard
(Anolis carolinensis)
Reptilia ECI2 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eci2 33
  • 66.2 (n)
Str.13785 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14349 33
zebrafish
(Danio rerio)
Actinopterygii zgc:92030 33
  • 62.72 (n)
eci2 34
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13890 34
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ech-4 33 34
  • 52.41 (n)
B0272.4 34
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DCI1 34
  • 27 (a)
ManyToMany
ECI1 34
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2179 34
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.414 33
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 Variation AA Info Type
rs1000227320 -- 4,133,791(-) T/C intron_variant
rs1000779375 -- 4,117,515(-) T/C intron_variant
rs1000848462 -- 4,122,167(-) T/C intron_variant
rs1000932176 -- 4,133,176(-) G/T intron_variant
rs1001085844 -- 4,134,580(-) A/G 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)

Additional Variant Information for ECI2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorder Aliases PubMed IDs
moyamoya disease 1
  • mymy1
- elite association - COSMIC cancer census association via MalaCards
Search ECI2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 Delta(3), Delta(2)-enoyl-CoA isomerase of mammalian peroxisomes. (PMID: 10419495) Geisbrecht BV … Gould SJ (The Journal of biological chemistry 1999) 2 3 4 22 58
  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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for ECI2 Gene

Sources for ECI2 Gene

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