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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ECI2 Gene

protein-coding   GIFtS: 54
GCID: GC06M004115

enoyl-CoA delta isomerase 2

(Previous name: peroxisomal D3,D2-enoyl-CoA isomerase )
(Previous symbol: PECI)
 Explore 9 diseases affiliated with
ECI2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ECI2    

Aliases
for ECI2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Enoyl-CoA Delta Isomerase 21 2     Peroxisomal 3,2-Trans-Enoyl-CoA Isomerase2 3
DRS11 2 3     Renal Carcinoma Antigen NY-REN-12 3
HCA881 2 3     DRS-12 3
PECI1 2 3     D3,D2-Enoyl-CoA Isomerase2 3
ACBD21 2     DBI-Related Protein 12 3
Peroxisomal D3,D2-Enoyl-CoA Isomerase1 2     Acyl-Coenzyme A Binding Domain Containing 22
Delta(3),Delta(2)-Enoyl-CoA Isomerase2 3     DJ1013A10.31
Diazepam-Binding Inhibitor-Related Protein 12 3     Enoyl-CoA Delta Isomerase 2, Mitochondrial2
Dodecenoyl-CoA Isomerase2 3     EC 5.3.3.83
Hepatocellular Carcinoma-Associated Antigen 882 3     PECI1 2 3

External Ids:    HGNC: 146011   Entrez Gene: 104552   Ensembl: ENSG000001987217   OMIM: 6080245   UniProtKB: O755213   
ORGUL members:         
NONCODE:n408305    

Export aliases for ECI2 gene to outside databases


Summaries
for ECI2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ECI2:
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)

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)


Genomic Views
for ECI2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ECI2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ECI2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ECI2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ECI2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ECI2_HUMAN, O75521 (See protein sequence)
Recommended Name: Enoyl-CoA delta isomerase 2, mitochondrial precursor  
Size: 394 amino acids; 43585 Da
Subcellular location: Isoform 1: Mitochondrion (By similarity)
Subcellular location: Isoform 2: Peroxisome matrix
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75521

    • ECI2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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 Proteins
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ECI2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005782peroxisomal matrix IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--


    ECI2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ECI2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ECI2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for ECI2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    Catalytic activity: (3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl-CoA

    Enzyme Number (IUBMB): EC 5.3.3.81

    miRNA
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    hsa-mir-124 (MIRT005655)

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    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmid: ECI2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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



    Pathways & Interactions
    for ECI2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Peroxisome
    		Peroxisome1.00
    2Fatty Acid Beta Oxidation
    		Fatty acid metabolism0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



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


    ECI2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ECI2

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

    5/8 Interacting proteins for ECI2 (O755213 ENSP000003547374) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP20Q9Y2K63, ENSP000003138114I2D: score=2 STRING: ENSP00000313811
    MAPK6Q166593I2D: score=2 
    ENO1P067333I2D: score=1 
    GRID2O434243I2D: score=1 
    ECHS1ENSP000003575354STRING: ENSP00000357535
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009062fatty acid catabolic process IDA10419495


    ECI2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ECI2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ECI2
    Search CenterWatch for drugs/clinical trials and news about ECI2 

    Transcripts
    for ECI2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmid: ECI2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/404 AceView cDNA sequences (see all 404):

    CR606157 CR607639 BF724987 BQ447848 AU100345 BQ896687 AA282967 BU844623 
    CB141111 AY297537 BG254971 BC017474 AW591699 BG775383 BE272879 AV703748 
    BI837131 CA454278 BF343815 BF475860 BF447307 BG477671 BG422837 BF002798 

    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

    Expression
    for ECI2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ECI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCAAGGAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ECI2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ECI2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ECI2

    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

        SABiosciences Expression via Pathway-Focused PCR Array including ECI2: 
              Fatty Acid Metabolism in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for ECI2 gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ECI2 gene from 9/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ECI21 enoyl-CoA delta isomerase 2 67.79(n)
    67.18(a)    		   420878  XM_001231828.2  XP_001231829.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ECI26
    ECHDC16
    		 --
    		 64(a)
    15(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343209.1(469045-494751)
    GL343681.1(204801-230877)
    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
    		 --
    		 35(a)
    		 possible ortholog
    		 3L(851346-852673)
    worm
    (Caenorhabditis elegans)    		 Secernentea ech-41 Protein ECH-4 52.5(n)
    48.44(a)    		   174665  NM_063929.5  NP_496330.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ECHIA6
    		 enoyl-CoA hydratase
    		 20(a)
    		 possible ortholog
    		 4(9176673-9178048)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 enoyl-CoA hydratase/isomerase family protein, puta...
    		 16(a)
    		 possible ortholog
    		 3(11067660-11070152)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria paaG6
    		 1,2-epoxyphenylacetyl-CoA isomerase, oxepin-CoA-fo...
    		 26(a)
    		 possible ortholog
    		 Chromosome(1456288-1457076)


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

    Paralogs
    for ECI2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ECI2 gene
    CDY2A2  CDY2B2  CDYL2  CDYL22  CDY12  CDY1B2  
    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



    Genomic Variants
    for ECI2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/432 NCBI SNPs in ECI2 are shown (see all 432)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs350711071,2
    		C,F,--4011521(+) CGGGAC/ACCCAG 1 -- us2k18Minor allele frequency- A:0.13NA WA CSA EA 368
    rs455297321,2
    		C,F,--4011558(+) TACTCT/CGTACC 1 -- us2k17Minor allele frequency- C:0.24NA WA CSA 247
    rs69109631,2
    		C,F,--4012012(+) ACCATG/AGGCCG 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs285108781,2
    		C,--4012101(+) GGGCGG/TCTCTA 1 -- us2k1 ese31Minor allele frequency- T:0.00EU 339
    rs737174561,2
    		C,--4012830(+) CATCCC/TCAAAT 1 -- int12Minor allele frequency- T:0.03WA 120
    rs95039261,2
    		F,--4013229(+) TGGAAA/GTTGCC 1 -- int11Minor allele frequency- G:0.09WA 118
    rs95021231,2
    		F,A,--4013477(+) tttccG/Ctcttg 1 -- int1 tfbs31Minor allele frequency- C:0.09WA 118
    rs777760981,2
    		F,--4013823(+) TAGATA/TACCTC 1 -- int11Minor allele frequency- T:0.09WA 118
    rs785948731,2
    		C,F,--4013881(+) TCATTC/TATTTC 1 -- int11Minor allele frequency- T:0.09WA 118
    rs743403371,2
    		F,--4013927(+) AAATCT/GCATAC 1 -- nc-transcript-variant1Minor allele frequency- G:0.09WA 118

    HapMap Linkage Disequilibrium report for ECI2 (4115923 - 4135831 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ECI2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ECI2
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    Disorders / Diseases
    for ECI2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ECI2 for disorders           About GeneDecksing

    OMIM gene information: 608024    OMIM disorders: --

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


    Export disorders for ECI2 gene to outside databases

    Publications
    for ECI2 gene

    (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)
    About This Section

    PubMed articles for ECI2 gene, integrated from 9 sources (see all 27):
    (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. (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. (2004)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. Large scale identification of human hepatocellular carcinoma- associated antigens by autoantibodies. (PubMed id 12097419)1, 2 Wang Y....Chen W.-F. (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. (2001)
    8. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)1, 2 Simpson J.C.... Wiemann S. (2000)
    9. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (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. (1999)

    External Searches for ECI2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ECI2 gene

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

    Other Databases showing ECI2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ECI2 gene

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

    Intellectual Property
    for ECI2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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