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ECE2 Gene

protein-coding   GIFtS: 62
GCID: GC03P183967

Endothelin Converting Enzyme 2

  Search for ECE2
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
Endothelin Converting Enzyme 21 2
KIAA06043 5
Endothelin-Converting Enzyme 22
ECE-23
EC 3.4.248
EC 3.4.24.718

External Ids:    HGNC: 132751   Entrez Gene: 97182   Ensembl: ENSG000001451947   OMIM: 6101455   UniProtKB: O603443   

Export aliases for ECE2 gene to outside databases

Previous GC identifers: GC03M180604 GC03P184962 GC03P185370 GC03P185289 GC03P185290 GC03P185451 GC03P181374


(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 ECE2 Gene:
This gene encodes a member of the M13 family, which includes type 2 integral membrane metallopeptidases. The
encoded enzyme is a membrane-bound zinc-dependent metalloprotease. The enzyme catalyzes the cleavage of big
endothelin to produce the vasoconstrictor endothelin-1, and plays a role in the processing of several
neuroendocrine peptides. It may also have methyltransferase activity. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Aug 2013)

GeneCards Summary for ECE2 Gene:
ECE2 (endothelin converting enzyme 2) is a protein-coding gene. GO annotations related to this gene include methyltransferase activity and metalloendopeptidase activity. An important paralog of this gene is PHEX.

UniProtKB/Swiss-Prot: ECE2_HUMAN, O60344
Function: Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine
peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and
prodynorphin-derived peptides. May limit beta-amyloid peptide accumulation in brain. May also have
methyltransferase activity




(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 at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ECE2 gene promoter:
         E2F-4   E2F-3a   GR   E2F-5   Pax-5   E2F-2   E2F   E2F-1   STAT3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ECE2 promoter sequence
   Search Chromatin IP Primers for ECE2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ECE2


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

Entrez Gene cytogenetic band: 3q27.1|.   Ensembl cytogenetic band:  3q27.1   HGNC cytogenetic band: 3q27.1

ECE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ECE2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P183967:  view genomic region     (about GC identifiers)

Start:
183,967,438 bp from pter      End:
184,010,819 bp from pter
Size:
43,382 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ECE2_HUMAN, O60344 (See protein sequence)
Recommended Name: Endothelin-converting enzyme 2  
Size: 883 amino acids; 99773 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Sequence caution: Sequence=AAL30386.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA25530.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for ECE2:
2PXX (3D)    
Secondary accessions: A5PLK8 Q6NTG7 Q6UW36 Q8NFD7 Q96NX3 Q96NX4 Q9BRZ8
Alternative splicing: 5 isoforms:  O60344-1   O60344-2   O60344-3   O60344-4   O60344-5   

Explore the universe of human proteins at neXtProt for ECE2: NX_O60344

Explore proteomics data for ECE2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn324, Asn384, Asn429
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ECE2 (O60344)
     HAFDDQG  FPAGILQ  TLGENIADNGG 


    See ECE2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001032401.1  NP_001093590.1  NP_001093591.1  NP_055508.3  NP_115707.2  

    ENSEMBL proteins: 
     ENSP00000314295   ENSP00000384223   ENSP00000352052   ENSP00000385846   ENSP00000350066  
     ENSP00000392467   ENSP00000398444  

    ECE2 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for ECE2
    Sino Biological Cell Lysate for ECE2
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    Cloud-Clone Corp. Proteins for ECE2

     
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    Search eBioscience for ELISAs for ECE2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Endothelin-converting enzyme 2
    Endopeptidases

    5 InterPro protein domains:
     IPR024079 MetalloPept_cat_dom
     IPR008753 Peptidase_M13_N
     IPR000718 Peptidase_M13
     IPR018497 Peptidase_M13_C
     IPR013216 Methyltransf_11

    Graphical View of Domain Structure for InterPro Entry O60344

    ProtoNet protein and cluster: O60344

    3 Blocks protein domains:
    IPB000221 Protamine P1
    IPB000718 Neprilysin metalloprotease (M13) family signature
    IPB008753 Peptidase M13


    UniProtKB/Swiss-Prot: ECE2_HUMAN, O60344
    Similarity: In the N-terminal section; belongs to the methyltransferase superfamily
    Similarity: In the C-terminal section; belongs to the peptidase M13 family


    Find genes that share domains with ECE2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ECE2_HUMAN, O60344
    Function: Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine
    peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and
    prodynorphin-derived peptides. May limit beta-amyloid peptide accumulation in brain. May also have
    methyltransferase activity
    Catalytic activity: Hydrolysis of the 21-Trp- -Val-22 bond in big endothelin to form endothelin 1
    Biophysicochemical properties: Kinetic parameters: KM=0.4 uM for big ET-1; KM=1.4 uM for peptide E; KM=27.4 uM for
    bradykinin; KM=48.4 uM for dynorphin B; pH dependence: Optimum pH is 5.0-5.5. Inactive at neutral pH;

         Enzyme Numbers (IUBMB): EC 3.4.24.712 EC 3.4.242

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IDA11718899
    GO:0008168methyltransferase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ECE2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ECE2:
     Decreased POU5F1-GFP protein e  Synthetic lethal with c-Myc af 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ece2):
     cardiovascular system  craniofacial  embryogenesis  hearing/vestibular/ear  mortality/aging 
     nervous system  normal  skeleton 

    Find genes that share phenotypes with ECE2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ece2tm1Ywa for ECE2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ECE2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ECE2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ECE2

    miRNA
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    miRTarBase miRNAs that target ECE2:
    hsa-mir-124-3p (MIRT023101)

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    Selected qRT-PCR Assays for microRNAs that regulate ECE2 (see all 10):
    hsa-miR-4283 hsa-miR-27a hsa-miR-1271 hsa-miR-128 hsa-miR-3681* hsa-miR-650 hsa-miR-3612 hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidECE2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ECE2

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    GenScript: all cDNA clones in your preferred vector (see all 5): ECE2 (NM_001037324)
    Browse Sino Biological Human cDNA Clones
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    (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
    ECE2_HUMAN, O60344: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Cytoplasmic
    granule membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus3
    plasma membrane3
    cytosol1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0030659cytoplasmic vesicle membrane IDA11718899

    Find genes that share ontologies with ECE2           About GenesLikeMe


    (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 ECE2 About    
    See pathways by source

    SuperPathContained pathways About
    1A-beta Uptake and Degradation
    A-beta Uptake and Degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ECE2
        A-beta Uptake & Degradation




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ECE2
    Interactions:

        Search GeneGlobe Interaction Network for ECE2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for ECE2 (ENSP000003842234) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53ENSP000002693054STRING: ENSP00000269305
    SMARCC1ENSP000002544804STRING: ENSP00000254480
    SMARCC2ENSP000002670644STRING: ENSP00000267064
    GINS1ENSP000002624604STRING: ENSP00000262460
    CASP10ENSP000002861864STRING: ENSP00000286186
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0007267cell-cell signaling TAS11718899
    GO:0007420brain development ISS--
    GO:0007507heart development ISS--
    GO:0008152metabolic process ----

    Find genes that share ontologies with ECE2           About GenesLikeMe



    (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 ECE2

    3 Novoseek inferred chemical compound relationships for ECE2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoramidon 85.2 7 7797512 (3), 10222335 (1), 1468574 (1), 7510000 (1)
    thiorphan 78.8 1 7797512 (1)
    zinc 18.6 3 18507370 (1), 8530372 (1)



    Find genes that share compounds with ECE2           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ECE2 gene (5 alternative transcripts): 
    NM_001037324.2  NM_001100120.1  NM_001100121.1  NM_014693.3  NM_032331.3  

    Unigene Cluster for ECE2:

    Endothelin converting enzyme 2
    Hs.146161  [show with all ESTs]
    Unigene Representative Sequence: NM_014693
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324557(uc003fnh.4) ENST00000402825(uc003fni.4) ENST00000359140(uc003fnk.4)
    ENST00000404464(uc003fnl.4 uc003fnm.4) ENST00000488401(uc011brh.1)
    ENST00000357474(uc011brg.1) ENST00000422932 ENST00000474750 ENST00000430587(uc011bri.1)
    ENST00000490579(uc010hxv.3) ENST00000462596
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ECE2 (see all 10):
    hsa-miR-4283 hsa-miR-27a hsa-miR-1271 hsa-miR-128 hsa-miR-3681* hsa-miR-650 hsa-miR-3612 hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidECE2 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECE2
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      QuantiTect SYBR Green Assays in human, mouse, rat ECE2
      QuantiFast Probe-based Assays in human, mouse, rat ECE2

    Additional mRNA sequence: 

    AB011176.1 AF192531.1 AF428263.1 AF428264.1 AF521189.1 AK293713.1 AK293891.1 AK295270.1 
    AK296541.1 AK309236.1 AY359003.1 BC005835.2 BC012449.1 BC069005.1 BC142950.1 

    6 DOTS entries:

    DT.426551  DT.95337716  DT.205131  DT.92417173  DT.100001396  DT.95163242 

    Selected AceView cDNA sequences (see all 118):

    AA366404 AF428263 AW245264 AY359003 BM547706 NM_014693 BU622982 BM558455 
    CR595932 BX283356 BM766109 CR620009 AB011176 BI966695 AF428264 CK903529 
    AF521189 CR625277 AF192531 BE792314 AA760767 BU739636 BF511209 BE799649 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ECE2 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
    SP1:                                                        -           -                                         -                                             
    SP2:                                                                    -                                         -                                             
    SP3:                    -     -     -     -     -     -     -           -                                         -                                             
    SP4:                                                  -     -           -                                         -                                             
    SP5:                                                  -     -                                                                                                   

    ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for ECE2

    (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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    ECE2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCAATACA
    ECE2 Expression
    About this image


    ECE2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Neural Tube (Nervous System)
             Spinal Ventral Columns
     
     Spinal Cord (Nervous System)
    ECE2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ECE2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.146161

    UniProtKB/Swiss-Prot: ECE2_HUMAN, O60344
    Tissue specificity: Expressed in brain. Strongly down-regulated in inferior parietal lobe from Alzheimer disease
    patients (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECE2

    (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.

    Orthologs for ECE2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ece21 , 5 endothelin converting enzyme 21, 5 88.46(n)1
    91.94(a)1
      16 (12.48 cM)5
    1075221  NM_177941.11  NP_808810.11 
     206115935 
    chicken
    (Gallus gallus)
    Aves ECE21 endothelin converting enzyme 2 78.32(n)
    80.41(a)
      100857430  XM_004943405.1  XP_004943462.1 
    lizard
    (Anolis carolinensis)
    Reptilia ECE26
    endothelin converting enzyme 2
    77(a)
    1 ↔ 1
    GL343245.1(345655-417164)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ece21 endothelin converting enzyme 2 69.07(n)
    76.73(a)
      100488407  XM_002935143.2  XP_002935189.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ECE26
    endothelin converting enzyme 2
    72(a)
    1 ↔ 1
    15(4032047-4106634) ENSDARG00000087841
    fruit fly
    (Drosophila melanogaster)
    Insecta Nep33
    Nep11
    metalloendopeptidase3
    Neprilysin 11
    46(a)
    (best of 14)3
    53.06(n)1
    41.13(a)1
      19A33
    315471  NM_167059.11  NP_727065.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T05A8.43
    nep-111
    protease3
    nep-111
    34(a)
    (best of 10)3
    48.46(n)1
    38.81(a)1
      II(2717612-2725538)3
    1736851  NM_062137.31  NP_494538.11 


    ENSEMBL Gene Tree for ECE2 (if available)
    TreeFam Gene Tree for ECE2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ECE2 gene
    PHEX2  MME2  KEL2  ECE12  MMEL12  ECEL12  
    6 SIMAP similar genes for ECE2 using alignment to 3 protein entries:     ECE2_HUMAN (see all proteins):
    ECE1    MMEL1    MME    PHEX    ECEL1    KEL

    Find genes that share paralogs with ECE2           About GenesLikeMe



    (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 ECE2 (see all 990)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs342351851,2
    F--183969359(+) GGTGGC/G/TCTGTG 2 -- int10--------
    rs98120391,2
    C,F,H--183969441(+) gctgtG/Aatggc 2 -- int14Minor allele frequency- A:0.05EA NS WA 418
    rs1905455291,2
    --183969643(+) TAAAAA/TCATAA 2 -- int10--------
    rs98321181,2
    C,F,H--183969659(+) tttatT/Caattg 2 -- int17Minor allele frequency- C:0.10NS NA WA 910
    rs1381004561,2
    --183969677(+) AGTTGA/TTTAAA 2 -- int10--------
    rs8433561,2
    H--183969742(-) ACACAG/CAGAAC 2 -- int15Minor allele frequency- C:0.00EA NS NA 302
    rs16872571,2
    C,H--183969795(-) TCACAG/CATTCA 2 -- int13Minor allele frequency- C:0.00EA NS 298
    rs1436600791,2
    --183969858(+) CTTTAC/GTGTGT 2 -- int10--------
    rs1827232331,2
    --183970019(+) TGACTA/GGTTTT 2 -- int10--------
    rs765457761,2
    C,F--183970020(+) GACTGG/CTTTTT 2 -- int11Minor allele frequency- C:0.13WA 118

    HapMap Linkage Disequilibrium report for ECE2 (183967438 - 184010819 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ECE2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4146CNV Insertion18451855
    nsv878060CNV Loss21882294
    dgv5354n71CNV Loss21882294
    nsv528639CNV Loss19592680
    nsv829813CNV Loss17160897
    nsv829812CNV Loss17160897
    nsv878062CNV Loss21882294
    nsv878057CNV Loss21882294
    nsv878063CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ECE2
    DNA2.0 Custom Variant and Variant Library Synthesis for ECE2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610145    OMIM disorders: --


    Find genes that share disorders with ECE2           About GenesLikeMe

    2 Novoseek inferred disease relationships for ECE2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 31.3 2 7510000 (2)
    tumors 0 1 15139053 (1)

    Genetic Association Database (GAD): ECE2
    Human Genome Epidemiology (HuGE) Navigator: ECE2 (3 documents)

    Export disorders for ECE2 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)
    About This Section

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    PubMed articles for ECE2 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with ECE2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human endothelin converting enzyme-2 (ECE2): characterization of mRNA species and chromosomal localization. (PubMed id 11718899)1, 2, 3, 9 Lorenzo M.-N....Marsden P.A. (Biochim. Biophys. Acta 2001)
    2. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. (PubMed id 16567585)1, 4, 9 Iemitsu M....Matsuda M. (Hypertension 2006)
    3. An intact SAM-dependent methyltransferase fold is encoded by the human endothelin-converting enzyme-2 gene. (PubMed id 19089949)1, 2, 9 Tempel W.... Bochkarev A. (Proteins 2009)
    4. Alterations in immunological and neurological gene expression patterns in Alzheimer's disease tissues. (PubMed id 17188679)1, 2, 9 Weeraratna A.T.... Taub D.D. (Exp. Cell Res. 2007)
    5. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (Nat. Genet. 2010)
    6. Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. (PubMed id 19626040)1, 4 McCauley J.L....Haines J.L. (Genes Immun. 2009)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    8. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)
    9. Endothelin-converting enzyme-2 is increased in Alzheimer's disease and up-regulated by Abeta. (PubMed id 19541930)1, 9 Palmer J.C....Love S. (Am. J. Pathol. 2009)
    10. Cellular expression of isoforms of endothelin-converting enzyme-1 (ECE-1c, ECE-1b and ECE-1a) and endothelin-converting enzyme-2. (PubMed id 11078322)1, 9 Davenport A.P. and Kuc R.E. (J. Cardiovasc. Pharmacol. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 9718 HGNC: 13275 AceView: ECE2 Ensembl:ENSG00000145194 euGenes: HUgn9718
    ECgene: ECE2 H-InvDB: ECE2

    (According to HUGE)
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    HUGE: KIAA0604

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ECE2 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for ECE2 gene:
    Search GeneIP for patents involving ECE2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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