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

ANKRD13A Gene

protein-coding   GIFtS: 46
GCID: GC12P110437

ankyrin repeat domain 13A

(Previous name: ankyrin repeat domain 13 )
(Previous symbol: ANKRD13)
 Explore 2 diseases affiliated with
ANKRD13A via our new
 Human Malady Compendium 
Biological research products
for ANKRD13A
    

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

Aliases
Ankyrin Repeat Domain 13A1 2     Ankyrin Repeat Domain-Containing Protein 13A2
ANKRD131 2 3     NY-REN-25 Antigen2
NY-REN-251 2     Protein KE033
Ankyrin Repeat Domain 131     

External Ids:    HGNC: 212681   Entrez Gene: 884552   Ensembl: ENSG000000765137   UniProtKB: Q8IZ073   

Export aliases for ANKRD13A gene to outside databases

Previous GC identifers: GC12P108921 GC12P107452


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

  --

(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_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKRD13A gene promoter:
         E2F-4   E2F-3a   E2F-5   Elk-1   AP-1   E2F-2   POU2F1   E2F   E2F-1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKRD13A promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKRD13A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRD13A


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

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.12

ANKRD13A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD13A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P110437:  view genomic region     (about GC identifiers)

Start:
110,436,991 bp from pter      End:
110,477,568 bp from pter
Size:
40,578 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: AN13A_HUMAN, Q8IZ07 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 13A  
Size: 590 amino acids; 67619 Da
Sequence caution: Sequence=AAC17109.1; Type=Frameshift; Positions=343, 348;
Secondary accessions: O60736

Explore the universe of human proteins at neXtProt for ANKRD13A: NX_Q8IZ07

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IZ07

  • ANKRD13A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_149112.1  
    ENSEMBL proteins: 
     ENSP00000261739   ENSP00000449781   ENSP00000449085   ENSP00000449220   ENSP00000448470  
     ENSP00000447288   ENSP00000447110  

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    Uscn Proteins for ANKRD13A


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    Uscn ELISAs and CLIAs for ANKRD13A


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

    ANKRD13A for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR003903 Ubiquitin-int_motif
     IPR021832 ANKRD13
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q8IZ07

    ProtoNet protein and cluster: Q8IZ07

    2 Blocks protein families:
    IPB002110 Ankyrin repeat signature
    IPB003903 Ubiquitin interacting motif


    UniProtKB/Swiss-Prot: AN13A_HUMAN, Q8IZ07
    Similarity: Contains 2 ANK repeats
    Similarity: Contains 3 UIM (ubiquitin-interacting motif) 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-193a-3p hsa-miR-607 hsa-miR-631 hsa-miR-548m hsa-miR-124 hsa-miR-9 hsa-miR-506 hsa-miR-193b
    SwitchGear 3'UTR luciferase reporter plasmidANKRD13A 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKRD13A

    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ankrd13a):
     limbs/digits/tail  skeleton 

    ANKRD13A for phenotypes           About GeneDecksing


    (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 ANKRD13A

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for ANKRD13A (Q8IZ072, 3 ENSP000002617394) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LAPTM5Q135712, 3MINT-62174 MINT-62173 I2D: score=4 
    RNF11Q9Y3C52, 3MINT-60880 I2D: score=2 
    SMAD5Q997172, 3MINT-61841 I2D: score=2 
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    TOLLIPQ9H0E23, ENSP000003147334I2D: score=1 STRING: ENSP00000314733
    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 ANKRD13A
    Search CenterWatch for drugs/clinical trials and news about ANKRD13A / AN13A 

    (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 ANKRD13A gene: 
    NM_033121.1  

    Unigene Cluster for ANKRD13A:

    Ankyrin repeat domain 13A
    Hs.528703  [show with all ESTs]
    Unigene Representative Sequence: NM_033121
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553025(uc009zvl.1) ENST00000550404(uc009zvm.2) ENST00000261739(uc001tpx.3 uc010sxw.2 uc001tpy.3 uc001tqa.3)
    ENST00000547639 ENST00000546476 ENST00000547419 ENST00000553251(uc001tpz.3)
    ENST00000549826 ENST00000551491 ENST00000553246

    miRNA
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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate ANKRD13A (see all 49):
    hsa-miR-193a-3p hsa-miR-607 hsa-miR-631 hsa-miR-548m hsa-miR-124 hsa-miR-9 hsa-miR-506 hsa-miR-193b
    SwitchGear 3'UTR luciferase reporter plasmidANKRD13A 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANKRD13A (see all 7)
    OriGene shRNA RFP: ANKRD13A
    OriGene siRNA: ANKRD13A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANKRD13A
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ANKRD13A (see all 4)
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    Additional cDNA sequence: 

    AF064604.1 AF155103.1 AK022658.1 AK095130.1 AK293232.1 AK302535.1 AK308923.1 AY364251.1 
    BC032833.2 

    18 DOTS entries:

    DT.100780270  DT.117869  DT.95300633  DT.92438549  DT.100780267  DT.95300628  DT.407517  DT.121186456 
    DT.95284707  DT.95300636  DT.100642475  DT.100780268  DT.100666602  DT.121186460  DT.121186503  DT.75120823 
    DT.91996504  DT.92438552 

    24/278 AceView cDNA sequences (see all 278):

    AA442320 AA992014 NM_033121 CD109650 AW069120 AI457813 CD724151 AW958869 
    BM798794 AL120745 W46423 AA639629 CB122859 AK130522 AA371369 CD242698 
    AA358054 BQ223645 AA483310 BM970069 BX098259 BF447132 AA722582 AA830102 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD13A (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for ANKRD13A

    (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

    ANKRD13A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGCCAGTAT

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

    About this image

    ANKRD13A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    HeartOutflow TractHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ANKRD13A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKRD13A

    SOURCE GeneReport for Unigene cluster: Hs.528703
        SABiosciences Custom PCR Arrays for ANKRD13A
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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 eukaryotes.

    Orthologs for ANKRD13A gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankrd13a1 , 5 ankyrin repeat domain 13a1, 5 85.54(n)1
    90.82(a)1
      5 (55.99 cM)5
    684201  NM_026718.21  NP_080994.21 
     1147746775 
    chicken
    (Gallus gallus)
    Aves ANKRD13A1 ankyrin repeat domain 13A 74.04(n)
    76.86(a)
      416902  XM_415193.3  XP_415193.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.43882 Xenopus laevis transcribed sequence with weak similarity more 76.7(n)    48035942 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.273272 Transcribed sequence with weak similarity to protein more 69.94(n)    CA496293.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG151186
    --
    37(a)
    1 → many
    2R(15021222-15031646)
    worm
    (Caenorhabditis elegans)
    Secernentea C18F10.71 Protein C18F10.7 47.2(n)
    36.68(a)
      175889  NM_065973.4  NP_498374.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G242106
    AT1G620506
    (see all 5)
    ankyrin repeat-containing protein
    (see all 5)
    19(a)
    18(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    3(8753474-8756065)
    1(22936127-22939024)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    ankyrin repeat domain containing protein, expresse...
    ankyrin repeat domain containing protein, expresse...
    (see all 3)
    20(a)
    19(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2(34613941-34617796)
    7(14573503-14579341)


    ENSEMBL Gene Tree for ANKRD13A (if available)
    TreeFam Gene Tree for ANKRD13A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKRD13A gene
    ANKRD13B2  ANKRD13D2  ANKRD13C2  
    5 SIMAP similar genes for ANKRD13A using alignment to 7 protein entries:     AN13A_HUMAN (see all proteins):
    ANKRD13    ANKRD13D    ANKRD13B    ANKRD13C    NRARP

    ANKRD13A 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

    10/578 NCBI SNPs in ANKRD13A are shown (see all 578    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1418296131,2
    --110436402(+) GCAGAC/TTGTGG 1 -- us2k10--------
    rs1844622971,2
    --110436466(+) AGCTAA/GCTTAA 1 -- us2k10--------
    rs1507019201,2
    --110436741(+) AATCAC/TGAAGT 1 -- us2k10--------
    rs1401643031,2
    --110436755(+) AATATA/CCCCTT 1 -- us2k10--------
    rs1872991531,2
    --110437044(+) ACTTTC/TCGCGT 1 -- us2k10--------
    rs2003795931,2
    --110437560(+) ACTACC/GGGCAG 2 R G mis10--------
    rs1929906701,2
    C,--110437621(+) CCCGGG/TGGGGA 1 -- int10--------
    rs1421710331,2
    --110437690(+) GGGATC/TCCCAG 1 -- int10--------
    rs1463496121,2
    --110437762(+) CGTGCA/GACGGG 1 -- int10--------
    rs1848043541,2
    --110437989(+) TAAGAA/GTAGCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for ANKRD13A (110436991 - 110477568 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ANKRD13A: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANKRD13A
    DNA2.0 Custom Variant and Variant Library Synthesis for ANKRD13A

    (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

    ANKRD13A for disorders           About GeneDecksing

    2 diseases for ANKRD13A:    About MalaCards
    renal cell carcinoma    carcinoma


    Export disorders for ANKRD13A 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 ANKRD13A gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with ANKRD13A)
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    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. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 3 Scanlan M.J....Old L.J. (1999)
    3. The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor endocytosis from the plasma membrane. (PubMed id 22298428)1 Tanno H....Komada M. (2012)
    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. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    6. 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)
    7. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. 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)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (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: 88455 HGNC: 21268 AceView: ANKRD13 Ensembl:ENSG00000076513 euGenes: HUgn88455
    ECgene: ANKRD13A H-InvDB: ANKRD13A

    (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 ANKRD13A 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 ANKRD13A gene:
    Search GeneIP for patents involving ANKRD13A

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