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

ANKRA2 Gene

protein-coding   GIFtS: 49
GCID: GC05M072883

Ankyrin Repeat, Family A (RFXANK-Like), 2

  Search for ANKRA2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ankyrin Repeat, Family A (RFXANK-Like), 21 2
ANKRA2 3 5
RFXANK-Like Protein 22 3
Ankyrin Repeat Family A Protein 22

External Ids:    HGNC: 132081   Entrez Gene: 577632   Ensembl: ENSG000001643317   OMIM: 6057875   UniProtKB: Q9H9E13   

Export aliases for ANKRA2 gene to outside databases

Previous GC identifers: GC05M071653 GC05M073081 GC05M072886 GC05M072932 GC05M068053


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

GeneCards Summary for ANKRA2 Gene: 
ANKRA2 (ankyrin repeat, family A (RFXANK-like), 2) is a protein-coding gene. GO annotations related to this gene include low-density lipoprotein particle binding and histone deacetylase binding. An important paralog of this gene is RFXANK.

UniProtKB/Swiss-Prot: ANRA2_HUMAN, Q9H9E1
Function: May facilitate endocytosis by linking megalin to components of the cytoskeleton or endocytic machinery




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006713.15  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKRA2 gene promoter:
         ATF-2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   POU2F1   POU2F1b   POU2F1a   c-Jun   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKRA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKRA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRA2


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

Entrez Gene cytogenetic band: 5q12-q13   Ensembl cytogenetic band:  5q13.2   HGNC cytogenetic band: 5q12-q13

ANKRA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRA2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M072883:  view genomic region     (about GC identifiers)

Start:
72,848,025 bp from pter      End:
72,861,511 bp from pter
Size:
13,487 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ANRA2_HUMAN, Q9H9E1 (See protein sequence)
Recommended Name: Ankyrin repeat family A protein 2  
Size: 313 amino acids; 34272 Da
Subunit: Interacts with the cytoplasmic tail of LRP2/megalin, HDAC4, HDAC5, and HDAC9, all these interactions
occur via the recognition of a PxLPxI/L motif. Interacts with AHRR (By similarity). Interacts with NEK6
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Membrane; Peripheral membrane protein (By
similarity)
4 PDB 3D structures from and Proteopedia for ANKRA2:
3SO8 (3D)        3V2O (3D)        3V2X (3D)        3V31 (3D)    

Explore the universe of human proteins at neXtProt for ANKRA2: NX_Q9H9E1

Explore proteomics data for ANKRA2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H9E1

  • ANKRA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ANKRA2 Protein Expression
    REFSEQ proteins: NP_075526.1  
    ENSEMBL proteins: 
     ENSP00000296785   ENSP00000422643  

    Human Recombinant Protein Products for ANKRA2: 
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    Cloud-Clone Corp. Proteins for ANKRA2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IDA11095640
    GO:0005856cytoskeleton IEA--
    GO:0016020membrane IDA11095640

    ANKRA2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q9H9E1

    ProtoNet protein and cluster: Q9H9E1

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: ANRA2_HUMAN, Q9H9E1
    Domain: The three central ANK repeats mediate binding to the PxLPxI/L motif of interactors
    Similarity: Contains 5 ANK repeats


    ANKRA2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANRA2_HUMAN, Q9H9E1
    Function: May facilitate endocytosis by linking megalin to components of the cytoskeleton or endocytic machinery

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0030169low-density lipoprotein particle binding IDA11095640
    GO:0042826histone deacetylase binding IEA--
         
    ANKRA2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ANKRA2:
     Elongated cells 

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ANKRA2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling events mediated by HDAC Class II
    Signaling events mediated by HDAC Class II


    1 BioSystems Pathway for ANKRA2
        Signaling events mediated by HDAC Class II



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANKRA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for ANKRA2 (Q9H9E13 ENSP000002967854) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC4P565243, ENSP000002646064I2D: score=2 STRING: ENSP00000264606
    LRP2P981643, ENSP000002638164I2D: score=2 STRING: ENSP00000263816
    AHRRA9YTQ33, ENSP000003238164STRING: ENSP00000323816 I2D: score=1 
    HDAC5Q9UQL63, ENSP000002259834I2D: score=2 STRING: ENSP00000225983
    HDAC9Q9UKV03, ENSP000004086174I2D: score=1 STRING: ENSP00000408617
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    ANKRA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 ANKRA2 (ANRA2)

    Search CenterWatch for drugs/clinical trials and news about ANKRA2 / ANRA2

    (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,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for ANKRA2 gene: 
    NM_023039.4  

    Unigene Cluster for ANKRA2:

    Ankyrin repeat, family A (RFXANK-like), 2
    Hs.239154  [show with all ESTs]
    Unigene Representative Sequence: NM_023039
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296785(uc003kcu.2) ENST00000505301 ENST00000515249 ENST00000504641
    ENST00000506130 ENST00000515804 ENST00000514916 ENST00000509433
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF251051.1 AF314032.1 AK022876.1 BC012917.1 

    9 DOTS entries:

    DT.443440  DT.91748791  DT.100775278  DT.95083899  DT.99998858  DT.100772638  DT.91674771  DT.95083883 
    DT.100662456 

    24/153 AceView cDNA sequences (see all 153):

    NM_023039 AL546663 BC012917 AU280004 BQ222914 BM711293 AA442702 CR600986 
    AI632886 CA773710 BM701933 AK022876 AI371756 BF447929 CR604361 BI908680 
    AF251051 AW771301 BG054552 BI761919 AW770054 BX339562 BF446446 BX488870 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ANKRA2    About this scheme

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


    ECgene alternative splicing isoforms for ANKRA2

    (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

    ANKRA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATTTTTA
    ANKRA2 Expression
    About this image


    See ANKRA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKRA2

    SOURCE GeneReport for Unigene cluster: Hs.239154
        SABiosciences Expression via Pathway-Focused PCR Array including ANKRA2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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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 animals.

    Orthologs for ANKRA2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankra21 , 5 ankyrin repeat, family A (RFXANK-like), 21, 5 88.78(n)1
    95.19(a)1
      13 (51.89 cM)5
    685581  NM_023472.11  NP_075961.11 
     982631585 
    chicken
    (Gallus gallus)
    Aves ANKRA21 ankyrin repeat, family A (RFXANK-like), 2 80.94(n)
    92.65(a)
      426153  NM_001006565.1  NP_001006565.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKRA26
    Uncharacterized protein
    92(a)
    1 ↔ 1
    2(15878644-15889035)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.39152 Transcribed sequence with moderate similarity to protein more 82.25(n)    BX722582.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC053275.12   -- 76.6(n)    BC053275.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58466
    --
    30(a)
    1 → many
    2L(9956148-9957019)


    ENSEMBL Gene Tree for ANKRA2 (if available)
    TreeFam Gene Tree for ANKRA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKRA2 gene
    RFXANK2  ANKEF12  
    1 SIMAP similar gene for ANKRA2 using alignment to 2 protein entries:     ANRA2_HUMAN (see all proteins):
    RFXANK

    ANKRA2 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) 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

    10/258 SNPs in ANKRA2 are shown (see all 258)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3431011,2
    C,F,H--72847601(+) CTAAAT/CATCAT 1 -- ds500119Minor allele frequency- C:0.43MN NS EA NA WA 2138
    rs1136770991,2
    C,F--72847605(+) ACATCA/GTATTA 1 -- ds50012Minor allele frequency- G:0.07WA 120
    rs68823871,2
    C,F--72847699(+) CTTTCC/TCTTCC 1 -- ds50012Minor allele frequency- T:0.09CSA WA 120
    rs1818446011,2
    C--72847810(+) CCTACA/CCTCAG 1 -- ds50010--------
    rs1181434441,2
    F--72847852(+) TCTTCA/GTGGCT 1 -- ds50011Minor allele frequency- G:0.03EA 120
    rs1859816381,2
    --72847861(+) CTTCTG/TTGAAA 1 -- ds50010--------
    rs800083851,2
    C--72847877(+) TTCAT-/AAGTGC 1 -- ds50010--------
    rs349093111,2
    C,F--72847878(+) TTCAT-/AGTGCT 1 -- ds50014Minor allele frequency- A:0.38NA CSA 8
    rs1916828061,2
    --72848027(+) ATTGAC/GTTAGA 1 -- ut310--------
    rs1835402561,2
    --72848055(+) ACATAC/TATTGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ANKRA2 (72848025 - 72861511 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ANKRA2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830346CNV Loss17160897
    nsv830347CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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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.)
    About This Section

    ANKRA2 for disorders           About MalaCards
    OMIM gene information: 605787    OMIM disorders: --


    ANKRA2 for disorders           About GeneDecksing


    Export disorders for ANKRA2 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 ANKRA2 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with ANKRA2)
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    1. Sequence-specific recognition of a PxLPxI/L motif by a n ankyrin repeat tumbler lock. (PubMed id 22649097)1, 2 Xu C....Min J. (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. Assignment of ankyrin repeat, family A (RFXANK-like) 2 (ANKRA2) to human chromosome 5q12-->q13 by radiation hybrid mapping and somatic cell hybrid PCR. (PubMed id 10965114)1, 3 Rader K....Arden K.C. (2000)
    5. Characterization of ANKRA, a novel ankyrin repeat protein that interacts with the cytoplasmic domain of megalin. (PubMed id 11095640)1, 2 Rader K.... Farquhar M.G. (2000)
    6. Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases. (PubMed id 15964851)1, 9 Wang A.H....Yang X.J. (2005)
    7. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Characterization of hNek6 interactome reveals an impo rtant role for its short N-terminal domain and colocalization with proteins at the centrosome. (PubMed id 20873783)2 Vaz Meirelles G....Kobarg J. (2010)
    10. Molecular mechanism of transcriptional repression of AhR repressor involving ANKRA2, HDAC4, and HDAC5. (PubMed id 17949687)1 Oshima M....Fujii-Kuriyama Y. (2007)

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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: 57763 HGNC: 13208 AceView: ANKRA2 Ensembl:ENSG00000164331 euGenes: HUgn57763
    ECgene: ANKRA2 H-InvDB: ANKRA2

    (According to HUGE)
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    (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 ANKRA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANKRA2 gene:
    Search GeneIP for patents involving ANKRA2

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