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

HEATR2 Gene

protein-coding   GIFtS: 48
GCID: GC07P000732

HEAT repeat containing 2

  Search for HEATR2
in our new
 Human Malady Compendium 
Biological research products
for HEATR2
    

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

Aliases
HEAT Repeat Containing 21 2     FLJ316711
CILD181 2     FLJ393811
FLJ203971     HEAT Repeat-Containing Protein 22
FLJ255641     

External Ids:    HGNC: 260131   Entrez Gene: 549192   Ensembl: ENSG000001648187   OMIM: 6148645   UniProtKB: Q86Y563   

Export aliases for HEATR2 gene to outside databases


(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 HEATR2:
The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found
only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary
dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants
have been found for this gene. (provided by RefSeq, Feb 2013)




(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_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HEATR2 gene promoter:
         Pax-5   Egr-1   HSF1 (long)   Egr-4   Arnt   CREB   deltaCREB   HSF1short   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 9): HEATR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HEATR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEATR2


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

Entrez Gene cytogenetic band: 7p22.3   Ensembl cytogenetic band:  7p22.3   HGNC cytogenetic band: 7p22.3

HEATR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEATR2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P000732:  view genomic region     (about GC identifiers)

Start:
766,338 bp from pter      End:
829,190 bp from pter
Size:
62,853 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 827,519-884,476     

(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: HEAT2_HUMAN, Q86Y56 (See protein sequence)
Recommended Name: HEAT repeat-containing protein 2  
Size: 855 amino acids; 93521 Da
Subcellular location: Cytoplasm. Note=Observed only in the cytoplasm of ciliated airway epithelial cells. Absent from
cilia
Sequence caution: Sequence=AAH10850.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q69YL1 Q96FI9 Q9NX75
Alternative splicing: 3 isoforms:  Q86Y56-1   Q86Y56-2   Q86Y56-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HEATR2: NX_Q86Y56

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86Y56

  • HEATR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060272.3  
    ENSEMBL proteins: 
     ENSP00000297440   ENSP00000410788   ENSP00000403165   ENSP00000384884   ENSP00000321451  

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    Novus Biologicals HEATR2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HEATR2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--


    HEATR2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HEATR2


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

    HEATR2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011989 ARM-like
     IPR021133 HEAT_type_2
     IPR000357 HEAT
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q86Y56

    ProtoNet protein and cluster: Q86Y56

    1 Blocks protein family: IPB000357 HEAT repeat

    UniProtKB/Swiss-Prot: HEAT2_HUMAN, Q86Y56
    Similarity: Contains 10 HEAT repeats


    (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

    miRNA
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    hsa-miR-1305 hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmidHEATR2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEATR2

    4 GenomeRNAi human phenotypes for HEATR2:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Increased S DNA content  Increased cell size 


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HEATR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/22 Interacting proteins for HEATR2 (Q86Y562, 3 ENSP000002974404) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZBTB16Q055162, 3MINT-64841 I2D: score=5 
    FEZ1Q996892, 3, ENSP000002789194MINT-64842 I2D: score=5 STRING: ENSP00000278919
    SAP18O004223, ENSP000003719734I2D: score=1 STRING: ENSP00000371973
    PGRMC1O002643, ENSP000002179714I2D: score=2 STRING: ENSP00000217971
    PNKPQ96T603, ENSP000003235114I2D: score=2 STRING: ENSP00000323511
    About this table

    (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 HEATR2
    Search CenterWatch for drugs/clinical trials and news about HEATR2 / HEAT2 

    (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 HEATR2 gene: 
    NM_017802.3  

    Unigene Cluster for HEATR2:

    HEAT repeat containing 2
    Hs.535896  [show with all ESTs]
    Unigene Representative Sequence: AK125479
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297440(uc010krz.1 uc003siz.2 uc003sjb.2) ENST00000437419
    ENST00000438961 ENST00000440747 ENST00000491496(uc003sja.3) ENST00000403952(uc003sjc.2)
    ENST00000486546 ENST00000461576 ENST00000313147

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HEATR2:
    hsa-miR-1305 hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmidHEATR2 3' UTR sequence
    Inhib. RNA
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    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEATR2

    Additional cDNA sequence: 

    AK000404.1 AK054595.1 AK056233.1 AK096700.1 AK098430.1 AK125479.1 AK127690.1 AK225507.1 
    AL832914.1 BC010850.1 BC047240.1 BC094840.1 

    17 DOTS entries:

    DT.320263  DT.100644345  DT.100785152  DT.97796293  DT.441345  DT.100785149  DT.92424447  DT.100785153 
    DT.101960785  DT.97822201  DT.92042007  DT.95171644  DT.97854140  DT.100804218  DT.95171647  DT.40267483 
    DT.97844926 

    24/115 AceView cDNA sequences (see all 115):

    BM756077 BM702962 BI762953 CB215545 BM703013 CA392586 AI361872 BM714707 
    AA053037 BM721750 BF793636 BU194106 BM721726 CA424295 CD245719 R99542 
    AK098430 BQ272448 BQ882338 BE890321 BF037220 BG180585 AA323904 BE313023 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for HEATR2 (see all 11)    About this scheme

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

    ExUns: 17a · 17b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for HEATR2

    (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

    HEATR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGAAAATT

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

    About this image
    See HEATR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HEATR2

    SOURCE GeneReport for Unigene cluster: Hs.535896
        SABiosciences Custom PCR Arrays for HEATR2
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    In Situ
    Assay Products:
     

     
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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 animals.

    Orthologs for HEATR2 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Heatr21 , 5 HEAT repeat containing 21, 5 78.68(n)1
    77.82(a)1
      5 (78.02 cM)5
    4339561  NM_001081265.11  NP_001074734.11 
     1391502235 
    chicken
    (Gallus gallus)
    Aves HEATR21 HEAT repeat containing 2 62.64(n)
    58.85(a)
      416447  XM_414755.2  XP_414755.2 
    lizard
    (Anolis carolinensis)
    Reptilia HEATR26
    --
    58(a)
    1 ↔ 1
    GL343385.1(640741-651451)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480124432   -- 75.19(n)    48012443 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003336601 HEAT repeat-containing protein 2-like 58.32(n)
    53.53(a)
      100333660  XM_002667551.2  XP_002667597.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG313201 CG31320 40.26(n)
    26.88(a)
      318680  NM_169581.1  NP_731905.1 


    ENSEMBL Gene Tree for HEATR2 (if available)
    TreeFam Gene Tree for HEATR2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HEATR2 gene

    HEATR2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HEATR2
    PGOHUM00000245552


    (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

    10/1618 NCBI SNPs in HEATR2 are shown (see all 1618    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1499809151,2
    C,F,--769344(+) TGATGC/GAGACC 2 Q E mis12Minor allele frequency- G:0.00NA EU 5863
    rs43988151,2
    C--769400(+) ACAGGC/TGCAGT 2 G syn1 ese32Minor allele frequency- T:0.00NA 4
    rs1491393471,2
    C,F--769401(+) CAGGCG/ACAGTG 2 /T /A mis11Minor allele frequency- A:0.00NA 4548
    rs1150585791,2
    C,F,--769411(+) GATCCA/TTTTTG 2 H L mis11Minor allele frequency- T:0.00NA 4546
    rs1141227121,2
    F--769415(+) CATTTT/CGGCAA 2 /F syn11Minor allele frequency- C:0.00NA 4550
    rs1421416601,2
    C--769422(+) GCAACG/AGGAAG 2 /R /G mis11Minor allele frequency- A:0.00NA 4548
    rs1460149161,2
    C,--769481(+) GTCCCG/TCAGGT 2 P syn11Minor allele frequency- T:0.00NA 4548
    rs788442511,2
    F,--769651(+) AAACTA/GGAAGA 1 -- int11Minor allele frequency- G:0.02NA 120
    rs800576501,2
    --769719(+) CTTGTG/ATAGTT 1 -- int11Minor allele frequency- A:0.01NA 120
    rs1475734271,2
    --769732(+) TGTCTA/CTTAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for HEATR2 (766338 - 829190 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for HEATR2
         4 Indels: 41561 28687 99837 47392
    Human Gene Mutation Database (HGMD): HEATR2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEATR2
    DNA2.0 Custom Variant and Variant Library Synthesis for HEATR2

    (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

    HEATR2 for disorders           About MalaCards

    HEATR2 for disorders           About GeneDecksing

    OMIM gene information: 614864    OMIM disorders: --

    UniProtKB/Swiss-Prot: HEAT2_HUMAN, Q86Y56
  • Defects in HEATR2 are the cause of primary ciliary dyskinesia 18 (CILD18) [MIM:614874]. A disorder
  • characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and
    bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male
    patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry
    and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with
    situs inversus is referred to as Kartagener syndrome

    1 disease from the University of Copenhagen DISEASES database for HEATR2:
    Primary ciliary dyskinesia

    Export disorders for HEATR2 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 HEATR2 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with HEATR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. (PubMed id 23040496)1, 2, 3 Horani A.... Ferkol T.W. (2012)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (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. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54919 HGNC: 26013 AceView: FLJ20397.1 Ensembl:ENSG00000164818 euGenes: HUgn54919
    ECgene: HEATR2 H-InvDB: HEATR2

    (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 HEATR2 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 HEATR2 gene:
    Search GeneIP for patents involving HEATR2

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