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

HECTD2 Gene

protein-coding   GIFtS: 47
GCID: GC10P093160

HECT domain containing E3 ubiquitin protein ligase 2

(Previous name: HECT domain containing 2 )
 Explore 5 diseases affiliated with
HECTD2 via our new
 Human Malady Compendium 
Biological research products
for HECTD2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
HECT Domain Containing E3 Ubiquitin Protein Ligase 21 2
HECT Domain Containing 21 2
HECT Domain-Containing Protein 22 3
FLJ373061
Probable E3 Ubiquitin-Protein Ligase HECTD22
EC 6.3.2.-3

External Ids:    HGNC: 267361   Entrez Gene: 1432792   Ensembl: ENSG000001653387   UniProtKB: Q5U5R93   

Export aliases for HECTD2 gene to outside databases

Previous GC identifers: GC10P092835 GC10P086798


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

UniProtKB/Swiss-Prot: HECD2_HUMAN, Q5U5R9
Function: Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the
form of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)




(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_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HECTD2 gene promoter:
         HOXA9   HOXA9B   Gfi-1   Evi-1   POU2F1   POU2F1a   Meis-1a   Meis-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHECTD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HECTD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HECTD2


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

Entrez Gene cytogenetic band: 10q23.32   Ensembl cytogenetic band:  10q23.32   HGNC chromosome: 10

HECTD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HECTD2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P093160:  view genomic region     (about GC identifiers)

Start:
93,170,096 bp from pter      End:
93,274,586 bp from pter
Size:
104,491 bases      Orientation:
plus strand

(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: HECD2_HUMAN, Q5U5R9 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase HECTD2  
Size: 776 amino acids; 88122 Da
Secondary accessions: Q5VZ97 Q5VZ98 Q5VZ99 Q8N1X7 Q8TCP5
Alternative splicing: 2 isoforms:  Q5U5R9-1   Q5U5R9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HECTD2: NX_Q5U5R9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5U5R9

  • HECTD2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_775768.2  NP_877497.2  

    ENSEMBL proteins: 
     ENSP00000360746   ENSP00000298068   ENSP00000360731   ENSP00000401023   ENSP00000439687  

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    Novus Biologicals HECTD2 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HECTD2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IBA--
    GO:0005737cytoplasm IBA--


    HECTD2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HECTD2


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

    HECTD2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000569 HECT

    Graphical View of Domain Structure for InterPro Entry Q5U5R9

    ProtoNet protein and cluster: Q5U5R9

    1 Blocks protein family: IPB000569 HECT domain (Ubiquitin-protein ligase)

    UniProtKB/Swiss-Prot: HECD2_HUMAN, Q5U5R9
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain


    (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: HECD2_HUMAN, Q5U5R9
    Function: Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the
    form of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)

    Enzyme Number (IUBMB): EC 6.3.2.-1

    miRNA
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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate HECTD2 (see all 26):
    hsa-miR-448 hsa-miR-202 hsa-miR-106a hsa-miR-548v hsa-miR-218 hsa-miR-221 hsa-miR-548a-3p hsa-miR-124
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    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
    GO:0016881acid-amino acid ligase activity ----


    HECTD2 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for HECTD2:
     Increased cell death HMECs cel  Increased cilium length after  


    (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



    UniProtKB/Swiss-Prot: HECD2_HUMAN, Q5U5R9
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HECTD2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/16 Interacting proteins for HECTD2 (Q5U5R93 ENSP000002980684) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    PAPD5Q8NDF83I2D: score=2 
    ABCG2Q9UNQ03I2D: score=1 
    CHIAQ9BZP63I2D: score=1 
    FA2HQ7L5A83I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process ----
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA--


    HECTD2 for ontologies           About GeneDecksing



    (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 HECTD2
    Search CenterWatch for drugs/clinical trials and news about HECTD2 / HECD2 

    (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 HECTD2 gene (2 alternative transcripts): 
    NM_173497.2  NM_182765.3  

    Unigene Cluster for HECTD2:

    HECT domain containing E3 ubiquitin protein ligase 2
    Hs.596096  [show with all ESTs]
    Unigene Representative Sequence: NM_182765
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371681(uc001khk.2) ENST00000298068(uc009xty.1) ENST00000487511
    ENST00000498446 ENST00000371667(uc001khn.1) ENST00000446394(uc001khl.2 uc010qnm.1 uc001khm.2)
    ENST00000536715

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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate HECTD2 (see all 26):
    hsa-miR-448 hsa-miR-202 hsa-miR-106a hsa-miR-548v hsa-miR-218 hsa-miR-221 hsa-miR-548a-3p hsa-miR-124
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    Additional cDNA sequence: 

    AF131793.1 AK094625.1 AK122629.1 AK295723.1 AL713675.1 BC040187.1 BX537856.1 

    8 DOTS entries:

    DT.95159826  DT.75100678  DT.40306043  DT.99955649  DT.410693  DT.100671974  DT.91948400  DT.92035613 

    24/80 AceView cDNA sequences (see all 80):

    AK122629 Z41325 AF131793 AA405558 AI640842 AL713675 AA633619 AL832073 
    Z45654 Z42993 AI217197 AW771211 BC036487 AI682502 AA405548 AA447223 
    AA744571 AI973069 AI635346 BX097208 D62490 AK094625 AW205041 NM_182765 

    GeneLoc Exon Structure


    (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

    HECTD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See HECTD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HECTD2

    SOURCE GeneReport for Unigene cluster: Hs.596096
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    In Situ
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    (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 common ancestor of chordates.

    Orthologs for HECTD2 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hectd21 , 5 HECT domain containing 21, 5 89.1(n)1
    89.53(a)1
      19 (31.77 cM)5
    2260981  NM_172637.31  NP_766225.21 
     365546395 
    chicken
    (Gallus gallus)
    Aves HECTD21 HECT domain containing 2 81.24(n)
    83.97(a)
      427031  XM_424632.3  XP_424632.3 
    lizard
    (Anolis carolinensis)
    Reptilia HECTD26
    --
    77(a)
    1 ↔ 1
    GL343219.1(916610-959512)
    zebrafish
    (Danio rerio)
    Actinopterygii hectd21 HECT domain containing 2 72.3(n)
    78.6(a)
      562999  XM_686363.4  XP_691455.4 


    ENSEMBL Gene Tree for HECTD2 (if available)
    TreeFam Gene Tree for HECTD2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HECTD2 gene
    HERC12  HECTD32  HERC22  HERC32  RCCD12  HERC62  HERC42  UBE3A2  
    HERC52  
    14 SIMAP similar genes for HECTD2 using alignment to 4 protein entries:     HECD2_HUMAN (see all proteins):
    DKFZp313O1018    UBE3A    DKFZp564G092    HERC3    HERC5    WWP2
    HUWE1    NEDD4    HERC4    NEDD4L    DKFZp564H223    HECW1
    SMURF2    HECTD1

    HECTD2 for paralogs           About GeneDecksing



    (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

    10/1351 NCBI SNPs in HECTD2 are shown (see all 1351    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1926847291,2
    --93168162(+) TCATCC/TAAACA 3 -- us2k1 int10--------
    rs606408201,2
    C,F,--93168270(+) ATCTGA/GAATTG 3 -- us2k1 int17Minor allele frequency- G:0.24WA NA CSA EA 366
    rs570338141,2
    C,F,--93168279(+) TGCAGC/TTAAAA 3 -- us2k1 int18Minor allele frequency- T:0.24WA NA CSA EA 367
    rs1419548871,2
    C,--93168408(+) GTTTT-/AAGAAGGA 3 -- int1 us2k10--------
    rs1840230631,2
    --93168591(+) CAACAA/GCAACT 3 -- us2k1 int10--------
    rs728154951,2
    --93168612(+) AGAAAG/TCCTTT 3 -- us2k1 int10--------
    rs1415893941,2
    --93169081(+) TGGGGA/GGTATT 3 -- int1 us2k10--------
    rs70769671,2
    C,F,A,H,--93169202(+) TAAACG/TGAAAG 3 -- us2k1 int110Minor allele frequency- T:0.03NS EA NA WA 1204
    rs1886246101,2
    --93169224(+) GGACGC/GATAGG 3 -- int1 us2k10--------
    rs1931605121,2
    --93169362(+) CTATGA/GGGGAA 3 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for HECTD2 (93170096 - 93274586 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for HECTD2
         3 CNVs: 85431 6894 37570
         2 Inversions: 29427 37113

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    (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

    HECTD2 for disorders           About GeneDecksing

    5 diseases for HECTD2:    About MalaCards
    bovine spongiform encephalopathy    creutzfeldt-jakob syndrome    prion disease    alzheimer's disease
    malaria

    1 disease from the University of Copenhagen DISEASES database for HECTD2:
    Prion disease
    Human Genome Epidemiology (HuGE) Navigator: HECTD2 (2 documents)

    Export disorders for HECTD2 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

    PubMed articles for HECTD2 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with HECTD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    4. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    5. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    6. Absence of association between two HECTD2 polymorphis ms and sporadic Creutzfeldt-Jakob disease. (PubMed id 21335971)1 Jeong B.H....Kim Y.S. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. HECTD2 is associated with susceptibility to mouse and human prion disease. (PubMed id 19214206)1 Lloyd S.E....Collinge J. (2009)
    10. HECTD2, a candidate susceptibility gene for Alzheimer 's disease on 10q. (PubMed id 19754925)1 Lloyd S.E....Collinge J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 143279 HGNC: 26736 AceView: HECTD2 Ensembl:ENSG00000165338 euGenes: HUgn143279
    ECgene: HECTD2 H-InvDB: HECTD2

    (According to HUGE)
    About This Section
      --

    (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 HECTD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HECTD2 gene:
    Search GeneIP for patents involving HECTD2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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