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ANKMY2 Gene

protein-coding   GIFtS: 46
GCID: GC07M016639

Ankyrin Repeat And MYND Domain Containing 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ankyrin Repeat And MYND Domain Containing 21 2
ZMYND202
Ankyrin Repeat And MYND Domain-Containing Protein 22

External Ids:    HGNC: 253701   Entrez Gene: 570372   Ensembl: ENSG000001065247   UniProtKB: Q8IV383   

Export aliases for ANKMY2 gene to outside databases

Previous GC identifers: GC07M016384 GC07M016412 GC07M016606 GC07M016526


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ANKMY2 Gene:
ANKMY2 (ankyrin repeat and MYND domain containing 2) is a protein-coding gene. Diseases associated with ANKMY2 include retinitis, and malaria.

UniProtKB/Swiss-Prot: ANKY2_HUMAN, Q8IV38
Function: May be involved in the trafficking of signaling proteins to the cilia (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKMY2 gene promoter:
         HOXA9   HOXA9B   USF1   AP-1   USF2   USF-1:USF-2   USF-1   Meis-1a   MRF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKMY2 promoter sequence
   Search Chromatin IP Primers for ANKMY2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKMY2


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

Entrez Gene cytogenetic band: 7p21   Ensembl cytogenetic band:  7p21.1   HGNC cytogenetic band: 7p21

ANKMY2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKMY2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M016639:  view genomic region     (about GC identifiers)

Start:
16,639,401 bp from pter      End:
16,685,442 bp from pter
Size:
46,042 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 16,692,527-16,738,565     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ANKY2_HUMAN, Q8IV38 (See protein sequence)
Recommended Name: Ankyrin repeat and MYND domain-containing protein 2  
Size: 441 amino acids; 49299 Da
Subunit: Interacts with the retinal-specific guanylyl cyclase GC1 (By similarity)
Secondary accessions: A4D124 Q659G1 Q96BL3

Explore the universe of human proteins at neXtProt for ANKMY2: NX_Q8IV38

Explore proteomics data for ANKMY2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKMY2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064715.1  
    ENSEMBL proteins: 
     ENSP00000303570   ENSP00000392259   ENSP00000410075  

    ANKMY2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for ANKMY2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZMYND: Zinc fingers, MYND-type
    ANKRD: Ankyrin repeat domain containing

    3 InterPro protein domains:
     IPR002893 Znf_MYND
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8IV38

    ProtoNet protein and cluster: Q8IV38

    2 Blocks protein domains:
    IPB002110 Ankyrin repeat signature
    IPB002893 Zn-finger


    UniProtKB/Swiss-Prot: ANKY2_HUMAN, Q8IV38
    Similarity: Contains 3 ANK repeats
    Similarity: Contains 1 MYND-type zinc finger


    ANKMY2 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: ANKY2_HUMAN, Q8IV38
    Function: May be involved in the trafficking of signaling proteins to the cilia (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    ANKMY2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANKMY2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANKMY2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANKMY2

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate ANKMY2:
    hsa-miR-587 hsa-miR-141* hsa-miR-183 hsa-miR-375
    SwitchGear 3'UTR luciferase reporter plasmidANKMY2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat ANKMY2

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKMY2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKMY2


    (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
    ANKY2_HUMAN, Q8IV38: Cell projection, cilium (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    extracellular2
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium IEA--

    ANKMY2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANKMY2
    Interactions:

        Search GeneGlobe Interaction Network for ANKMY2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for ANKMY2 (Q8IV383 ENSP000003035704) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PBDC1Q9BVG43I2D: score=5 
    RAPGEF2Q9Y4G83I2D: score=2 
    ACDENSP000003774964STRING: ENSP00000377496
    POT1ENSP000003502494STRING: ENSP00000350249
    TINF2ENSP000002674154STRING: ENSP00000267415
    About this table

    (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 ANKMY2 (ANKY2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ANKMY2 gene: 
    NM_020319.2  

    Unigene Cluster for ANKMY2:

    Ankyrin repeat and MYND domain containing 2
    Hs.157378  [show with all ESTs]
    Unigene Representative Sequence: AK001740
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306999(uc003sti.3) ENST00000447802(uc010ktz.3) ENST00000453623
    ENST00000421746
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate ANKMY2:
    hsa-miR-587 hsa-miR-141* hsa-miR-183 hsa-miR-375
    SwitchGear 3'UTR luciferase reporter plasmidANKMY2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ANKMY2
    Predesigned siRNA for gene silencing in human, mouse, rat ANKMY2
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    GenScript: all cDNA clones in your preferred vector: ANKMY2 (NM_020319)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANKMY2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKMY2
    Primer
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    OriGene qPCR primer pairs and template standards for ANKMY2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ANKMY2
      QuantiTect SYBR Green Assays in human, mouse, rat ANKMY2
      QuantiFast Probe-based Assays in human, mouse, rat ANKMY2

    Additional mRNA sequence: 

    AK001389.1 AK001740.1 AK023704.1 AL050390.1 BC015453.1 BC035353.1 

    8 DOTS entries:

    DT.95273011  DT.115315  DT.100779084  DT.121051986  DT.100671686  DT.115316  DT.95273010  DT.100779086 

    Selected AceView cDNA sequences (see all 146):

    BC035353 AA953263 AW958268 F02001 AI868104 CB156355 AU133350 AA742203 
    NM_020319 BM504247 BM510789 AL541077 BU730047 BM789219 BU628095 CR598118 
    AA889045 BC015453 AI887185 Z44891 CB159320 BM791635 AA749359 Z40659 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ANKMY2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for ANKMY2

    (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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    ANKMY2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCACTTCC
    ANKMY2 Expression
    About this image

    ANKMY2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKMY2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.157378
        Custom PCR Arrays for ANKMY2
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ANKMY2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankmy21 , 5 ankyrin repeat and MYND domain containing 21, 5 84.92(n)1
    88.86(a)1
      12 (16.54 cM)5
    2174731  NM_146033.31  NP_666145.31 
     361571245 
    chicken
    (Gallus gallus)
    Aves ANKMY21 ankyrin repeat and MYND domain containing 2 77.2(n)
    82.59(a)
      420593  NM_001030979.1  NP_001026150.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKMY26
    ankyrin repeat and MYND domain containing 2
    72(a)
    1 ↔ 1
    6(27456662-27482753)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.261082 Xenopus laevis transcribed sequence with weak similarity more 78.61(n)    BG578528.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi46e082 wufi46e08 75.17(n)   334389  BC044410.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG80031 CG8003 50.91(n)
    42.35(a)
      39210  NM_001274754.1  NP_001261683.1 
    worm
    (Caenorhabditis elegans)
    Secernentea daf-251 daf-25 46.67(n)
    34.63(a)
      171623  NM_058318.3  NP_490719.1 


    ENSEMBL Gene Tree for ANKMY2 (if available)
    TreeFam Gene Tree for ANKMY2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKMY2 gene
    3 SIMAP similar genes for ANKMY2 using alignment to 3 protein entries:     ANKY2_HUMAN (see all proteins):
    NRARP    IkBa    ZDHHC17

    ANKMY2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ANKMY2 (see all 1069)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1395858931,2
    C--16638927(+) GTGAAC/TTGGGG 1 -- int10--------
    rs1149762971,2
    F--16639041(+) TGGGCG/ATGTTG 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1896704371,2
    --16639048(+) GTTGGC/TGGGCA 1 -- int10--------
    rs1131289001,2
    F--16639137(+) GATAGC/TGCCAT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs5160381,2
    C,F--16639151(+) ACTCCC/TGTGTG 1 -- int15Minor allele frequency- T:0.08NA WA EA 362
    rs69792421,2
    C,F--16639160(+) tgggcA/C/Gacaag 1 -- int12WA 120
    rs1439256331,2
    --16639201(+) CCAACA/CAACAA 1 -- int10--------
    rs733107381,2
    C,F--16639326(+) CAAGTT/CCCCTA 1 -- int12Minor allele frequency- C:0.08WA 120
    rs1813020871,2
    --16639362(+) CTCTAA/GTATTT 1 -- int10--------
    rs47215171,2
    C,F,A,H--16639379(+) CCCCAG/ACAAAT 1 -- int123Minor allele frequency- A:0.14NS EA NA WA CSA 2762

    HapMap Linkage Disequilibrium report for ANKMY2 (16639401 - 16685442 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ANKMY2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657728CNV Deletion23128226
    esv2174786CNV Deletion18987734
    esv2734056CNV Deletion23290073
    nsv522819CNV Loss19592680
    nsv887758CNV Gain21882294
    nsv830912CNV Gain17160897
    nsv887759CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANKMY2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for ANKMY2:    About MalaCards
    retinitis    malaria


    ANKMY2 for disorders           About GeneDecksing


    Export disorders for ANKMY2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ANKMY2 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ANKMY2)
        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. (Genome Res. 2004)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (amp 2011)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57037 HGNC: 25370 AceView: ANKMY2 Ensembl:ENSG00000106524 euGenes: HUgn57037
    ECgene: ANKMY2 H-InvDB: ANKMY2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ANKMY2 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 ANKMY2 gene:
    Search GeneIP for patents involving ANKMY2

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



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