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ECI2 Gene

protein-coding   GIFtS: 52
GCID: GC06M004115

Enoyl-CoA Delta Isomerase 2

(Previous name: peroxisomal D3,D2-enoyl-CoA isomerase)
(Previous symbol: PECI)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Enoyl-CoA Delta Isomerase 21 2     DRS12 3
PECI1 2 3     HCA882 3
Peroxisomal D3,D2-Enoyl-CoA Isomerase1 2     D3,D2-Enoyl-CoA Isomerase2 3
Acyl-Coenzyme A Binding Domain Containing 21 2     DBI-Related Protein 12 3
Delta(3),Delta(2)-Enoyl-CoA Isomerase2 3      Hepatocellular Carcinoma-Associated Antigen 881
Diazepam-Binding Inhibitor-Related Protein 12 3     ACBD22
Dodecenoyl-CoA Isomerase2 3     dJ1013A10.32
Hepatocellular Carcinoma-Associated Antigen 882 3     Enoyl-CoA Delta Isomerase 2, Mitochondrial2
Peroxisomal 3,2-Trans-Enoyl-CoA Isomerase2 3     EC 5.3.3.83
Renal Carcinoma Antigen NY-REN-12 3     pECI3
DRS-12 3     

External Ids:    HGNC: 146011   Entrez Gene: 104552   Ensembl: ENSG000001987217   OMIM: 6080245   UniProtKB: O755213   

Export aliases for ECI2 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 paroxysmal nocturnal hemoglobinuria, and moyamoya disease. GO annotations related to this gene include dodecenoyl-CoA delta-isomerase activity and receptor binding. An important paralog of this gene is CDY2A.

UniProtKB/Swiss-Prot: ECI2_HUMAN, O75521
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)

Gene Wiki entry for ECI2 (PECI) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ECI2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidECI2 promoter sequence
   Search Chromatin IP Primers for ECI2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ECI2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p24.3   Ensembl cytogenetic band:  6p25.2   HGNC cytogenetic band: 6p24.3

ECI2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ECI2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M004115:  view genomic region     (about GC identifiers)

Start:
4,115,923 bp from pter      End:
4,135,831 bp from pter
Size:
19,909 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ECI2_HUMAN, O75521 (See protein sequence)
Recommended Name: Enoyl-CoA delta isomerase 2, mitochondrial precursor  
Size: 394 amino acids; 43585 Da
Caution: It is uncertain whether Met-1 or Met-3 is the initiator
Sequence caution: Sequence=AAC19317.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAD34173.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF66247.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH02668.3; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAH16781.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=AAH17474.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=AAH33841.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH34702.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAG52068.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for ECI2:
2CQU (3D)        2F6Q (3D)    
Secondary accessions: Q5JYK5 Q5JYK7 Q7L124 Q8N0X0 Q9BUE9 Q9H0T9 Q9NQH1 Q9NYH7 Q9UN55
Alternative splicing: 2 isoforms:  O75521-1   O75521-2   

Explore the universe of human proteins at neXtProt for ECI2: NX_O75521

Explore proteomics data for ECI2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys92
  • Modification sites at PhosphoSitePlus

  • See ECI2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001159482.1  NP_006108.2  NP_996667.2  

    ENSEMBL proteins: 
     ENSP00000369461   ENSP00000369468   ENSP00000417170   ENSP00000369463   ENSP00000417803  
     ENSP00000354737   ENSP00000420309   ENSP00000417459   ENSP00000406969  

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    Novus Biologicals ECI2 Lysates
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR022408 Acyl-CoA-binding_prot_CS
     IPR001753 Crotonase_core_superfam
     IPR000582 Acyl-CoA-binding_protein
     IPR014352 FERM/acyl-CoA-bd_prot_3-hlx

    Graphical View of Domain Structure for InterPro Entry O75521

    ProtoNet protein and cluster: O75521

    1 Blocks protein domain: IPB000582 Acyl-coA-binding protein

    UniProtKB/Swiss-Prot: ECI2_HUMAN, O75521
    Similarity: In the C-terminal section; belongs to the enoyl-CoA hydratase/isomerase family
    Similarity: Contains 1 ACB (acyl-CoA-binding) domain


    ECI2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ECI2_HUMAN, O75521
    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)
    Catalytic activity: (3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl-CoA

         Enzyme Number (IUBMB): EC 5.3.3.81

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0003824catalytic activity ----
    GO:0004165dodecenoyl-CoA delta-isomerase activity IEA--
    GO:0005102receptor binding IPI--
         
    ECI2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ECI2
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    miRNA
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    miRTarBase miRNAs that target ECI2:
    hsa-mir-21-5p (MIRT030944), hsa-mir-124-3p (MIRT005655), hsa-mir-877-3p (MIRT036886)

    Block miRNA regulation of human, mouse, rat ECI2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ECI2:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidECI2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): ECI2 (NM_006117)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECI2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECI2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ECI2_HUMAN, O75521: Isoform 1: Mitochondrion (By similarity)
    ECI2_HUMAN, O75521: Isoform 2: Peroxisome matrix

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005782peroxisomal matrix IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    ECI2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ECI2 About    
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid metabolism
    Fatty acid degradation0.42
    2Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for ECI2):
        Fatty acid degradation
    Peroxisome


    ECI2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ECI2: 
              Fatty Acid Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ECI2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ECI2 (O755213 ENSP000003547374) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP20Q9Y2K63, ENSP000003138114I2D: score=2 STRING: ENSP00000313811
    ENO1P067333, ENSP000002345904I2D: score=1 STRING: ENSP00000234590
    MAPK6Q166593I2D: score=2 
    GRID2O434243I2D: score=1 
    ECHS1ENSP000003575354STRING: ENSP00000357535
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----
    GO:0009062fatty acid catabolic process IDA10419495

    ECI2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ECI2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ECI2 gene (3 alternative transcripts): 
    NM_001166010.1  NM_006117.2  NM_206836.2  

    Unigene Cluster for ECI2:

    Enoyl-CoA delta isomerase 2
    Hs.15250  [show with all ESTs]
    Unigene Representative Sequence: AB209917
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380118(uc003mwf.3 uc003mwd.3) ENST00000380125(uc021yku.1)
    ENST00000496241(uc003mwc.3) ENST00000380120(uc003mwe.3) ENST00000478266(uc010jnr.1)
    ENST00000464057 ENST00000361538 ENST00000465828 ENST00000464583 ENST00000495548
    ENST00000489086 ENST00000413766
    miRNA
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    Block miRNA regulation of human, mouse, rat ECI2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ECI2:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidECI2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ECI2
    Predesigned siRNA for gene silencing in human, mouse, rat ECI2
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ECI2 (NM_006117)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECI2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECI2
      QuantiTect SYBR Green Assays in human, mouse, rat ECI2
      QuantiFast Probe-based Assays in human, mouse, rat ECI2

    Additional mRNA sequence: 

    AB209917.1 AF069301.1 AF153612.1 AF244138.1 AF257175.1 AK057175.1 AK075108.1 AK222617.1 
    AK223003.1 AK297049.1 AL136642.1 AY297537.1 BC002668.2 BC008458.1 BC016781.1 BC017474.1 
    BC025287.1 BC033841.1 BC034702.1 CR456768.1 NR_028588.1 

    17 DOTS entries:

    DT.417457  DT.100843035  DT.121332641  DT.92458549  DT.100818772  DT.92458552  DT.100818770  DT.100818764 
    DT.95260096  DT.121332637  DT.121332646  DT.121332711  DT.121332727  DT.121332677  DT.91909458  DT.92458555 
    DT.97847926 

    Selected AceView cDNA sequences (see all 404):

    CA454278 BF475860 AK057175 AU102275 BM787671 AU102280 BU844623 BG477671 
    CR606157 BM709708 BU845287 BC002668 BG032635 BE797223 BX406615 BM821699 
    BU151491 CB141111 CB141545 AY297537 BM561793 BM969650 BU541795 CR593971 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ECI2    About this scheme

    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:                                -     -     -                                                                           


    ECgene alternative splicing isoforms for ECI2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ECI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAAGGAAG
    ECI2 Expression
    About this image


    ECI2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
     
     Heart (Cardiovascular System)
    ECI2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ECI2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.15250

    UniProtKB/Swiss-Prot: ECI2_HUMAN, O75521
    Tissue specificity: Abundant in heart, skeletal muscle and liver. Expressed in CD34(+) T-cells and CD34(+) bone
    marrow cells

        Pathway & Disease-focused RT2 Profiler PCR Array including ECI2: 
              Fatty Acid Metabolism in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for ECI2
    OriGene qSTAR qPCR primer pairs in human, mouse for ECI2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECI2
    QuantiTect SYBR Green Assays in human, mouse, rat ECI2
    QuantiFast Probe-based Assays in human, mouse, rat ECI2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECI2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ECI2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eci21 , 5 enoyl-Coenzyme A delta isomerase 21, 5 78.77(n)1
    73.4(a)1
      13 (14.23 cM)5
    239861  NM_001110331.11  NP_001103801.11 
     349777485 
    chicken
    (Gallus gallus)
    Aves ECI21 enoyl-CoA delta isomerase 2 67.01(n)
    65.98(a)
      420878  XM_001231828.3  XP_001231829.1 
    lizard
    (Anolis carolinensis)
    Reptilia ECI26
    enoyl-CoA delta isomerase 2
    63(a)
    1 ↔ 1
    GL343209.1(469045-494825)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.143492 Xenopus laevis transcribed sequence with weak similarity more 72.43(n)    CF520173.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CA473450.12   -- 70.27(n)    CA473450.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG138906
    --
    34(a)
    1 ↔ 1
    3L(851346-852673)
    worm
    (Caenorhabditis elegans)
    Secernentea ech-41 ech-4 52.41(n)
    47.88(a)
      174665  NM_063929.6  NP_496330.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DCI16
    ECI16
    Peroxisomal protein; identification as a delta(3,5...
    Peroxisomal delta3,delta2-enoyl-CoA isomerase, hex...
    27(a)
    22(a)
    many ↔ many
    many ↔ many
    XV(674352-675167) YOR180C
    XII(706198-707040) YLR284C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ECI2 gene
    CDY2A2  CDY2B2  CDYL22  AUH2  ECHDC32  ECHS12  CDY1B2  ECHDC22  
    CDYL2  ECH12  CDY12  
    11 SIMAP similar genes for ECI2 using alignment to 6 protein entries:     ECI2_HUMAN (see all proteins):
    HCA64    PECI    CDYL    BRL    CDY2A    DBI
    CDY2B    ACBD7    CDY1    CDY1B    CDYL2

    ECI2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ECI2 (see all 71)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2019946721,2
    --4131505(+) GGTAC-/AAAAAA 4 -- int10--------
    rs1888705661,2
    --4131514(+) AAAAAA/CCACCA 4 -- int10--------
    rs770372321,2
    C,F--4131531(+) CAGTGG/ATGGAC 4 -- int11Minor allele frequency- A:0.09WA 118
    rs1923644231,2
    --4131646(+) AAAAGA/GAATTA 4 -- int10--------
    rs559488931,2
    C,F--4131711(+) CACTCG/AGCTAC 4 -- int11Minor allele frequency- A:0.50WA 2
    rs1843117181,2
    --4131888(+) GAGTTC/TGAGAC 4 -- int10--------
    rs340943241,2
    C,F--4131958(+) TGGTGA/GCAGGT 4 -- int12Minor allele frequency- G:0.25NA WA 4
    rs100851961,2
    C,F,A--4131980(+) cagctG/Acttgg 4 -- int14Minor allele frequency- A:0.10NA WA CSA 125
    rs1881950801,2
    --4132068(+) CCTGCA/GTGACA 4 -- int10--------
    rs1465847721,2
    C--4132110(+) AAAAC-/AA    
       AAGAA
    AAAAG
    4 -- int10--------

    HapMap Linkage Disequilibrium report for ECI2 (4115923 - 4135831 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ECI2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422231CNV Deletion17116639
    esv2422457CNV Deletion17116639

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ECI2
    DNA2.0 Custom Variant and Variant Library Synthesis for ECI2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608024    OMIM disorders: --

    8 diseases for ECI2:    
    About MalaCards
    paroxysmal nocturnal hemoglobinuria    moyamoya disease    hemoglobinuria    hepatocellular carcinoma
    aplastic anemia    renal cell carcinoma    obesity    cerebritis


    ECI2 for disorders           About GeneDecksing


    Export disorders for ECI2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ECI2 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with ECI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of PECI, a novel monofunctional D3,D2-enoyl-CoA isomerase of mammalian peroxisomes. (PubMed id 10419495)1, 2, 3, 9 Geisbrecht B.V.... Gould S.J. (J. Biol. Chem. 1999)
    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. (PubMed id 15217832)1, 2, 9 Feng X.... Nakao S. (Blood 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    6. Large scale identification of human hepatocellular carcinoma- associated antigens by autoantibodies. (PubMed id 12097419)1, 2 Wang Y....Chen W.-F. (J. Immunol. 2002)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    8. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)1, 2 Simpson J.C.... Wiemann S. (EMBO Rep. 2000)
    9. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (Int. J. Cancer 1999)
    10. Molecular cloning and expression of a novel human cDNA related to the diazepam binding inhibitor. (PubMed id 10354522)1, 2 Suk K.... Lee M.-S. (Biochim. Biophys. Acta 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10455 HGNC: 14601 AceView: PECI Ensembl:ENSG00000198721 euGenes: HUgn10455
    ECgene: ECI2 Kegg: 10455 H-InvDB: ECI2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ECI2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ECI2 gene:
    Search GeneIP for patents involving ECI2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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