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

ANKS3 Gene

protein-coding   GIFtS: 47
GCID: GC16M004747

ankyrin repeat and sterile alpha motif domain containing...

 Explore 1 disease affiliated with
ANKS3 via our new
 Human Malady Compendium 
Biological research products
for ANKS3
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ankyrin Repeat And Sterile Alpha Motif Domain Containing 31 2
KIAA19771 3
FLJ323451
FLJ327671
Ankyrin Repeat And SAM Domain-Containing Protein 32

External Ids:    HGNC: 294221   Entrez Gene: 1244012   Ensembl: ENSG000001680967   UniProtKB: Q6ZW763   
ORGUL members:         
NONCODE:n411666    

Export aliases for ANKS3 gene to outside databases

Previous GC identifer: GC16M004687


(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKS3 gene promoter:
         SREBP-1c   HTF   STAT5A   SREBP-1b   HEN1   MEF-2A   POU2F1   SREBP-1a   POU2F1a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKS3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKS3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKS3


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

ANKS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKS3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M004747:  view genomic region     (about GC identifiers)

Start:
4,746,513 bp from pter      End:
4,784,379 bp from pter
Size:
37,867 bases      Orientation:
minus 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: ANKS3_HUMAN, Q6ZW76 (See protein sequence)
Recommended Name: Ankyrin repeat and SAM domain-containing protein 3  
Size: 656 amino acids; 72038 Da
Secondary accessions: B4DWU4 D3DUE2 Q8TF25
Alternative splicing: 2 isoforms:  Q6ZW76-1   Q6ZW76-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKS3: NX_Q6ZW76

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZW76

  • ANKS3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001229858.1  NP_597707.1  

    ENSEMBL proteins: 
     ENSP00000304586   ENSP00000467591   ENSP00000465203   ENSP00000465294   ENSP00000467439  
     ENSP00000466162   ENSP00000468234   ENSP00000466228   ENSP00000465306   ENSP00000465373  
     ENSP00000467783   ENSP00000465454   ENSP00000466362   ENSP00000468464   ENSP00000467474  
     ENSP00000465361   ENSP00000468380   ENSP00000465566   ENSP00000406796   ENSP00000388270  

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    Uscn Proteins for ANKS3


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    Uscn ELISAs and CLIAs for ANKS3


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

    ANKS3 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR011510 SAM_2
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q6ZW76

    ProtoNet protein and cluster: Q6ZW76

    2 Blocks protein families:
    IPB001660 Sterile alpha motif SAM
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ANKS3_HUMAN, Q6ZW76
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 1 SAM (sterile alpha motif) 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

    miRNA
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    hsa-miR-10b* hsa-miR-3127-5p
    SwitchGear 3'UTR luciferase reporter plasmidANKS3 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 ANKS3

    1 GenomeRNAi human phenotype for ANKS3:
     Bright nuclei 


    (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 ANKS3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for ANKS3 (Q6ZW762, 3 ENSP000003045864) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2878547 I2D: score=3 STRING: ENSP00000344782
    ZNF473Q8WTR73I2D: score=1 
    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 ANKS3
    Search CenterWatch for drugs/clinical trials and news about ANKS3 

    (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 ANKS3 gene (2 alternative transcripts): 
    NM_001242929.1  NM_133450.3  

    Unigene Cluster for ANKS3:

    Ankyrin repeat and sterile alpha motif domain containing 3
    Hs.654859  [show with all ESTs]
    Unigene Representative Sequence: AB075857
    18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000591185 ENST00000589035 ENST00000590803 ENST00000591653 ENST00000304283(uc002cxi.2 uc002cxj.2 uc021tcj.1 uc021tck.1 uc002cxk.3 uc010uxs.2)
    ENST00000590193 ENST00000592077 ENST00000585773 ENST00000588513 ENST00000588398
    ENST00000592840 ENST00000590730 ENST00000586605 ENST00000592421 ENST00000592068
    ENST00000586166 ENST00000592698 ENST00000586159

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANKS3
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ANKS3:
    hsa-miR-10b* hsa-miR-3127-5p
    SwitchGear 3'UTR luciferase reporter plasmidANKS3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANKS3 (see all 7)
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    Clone
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    Additional cDNA sequence: 

    AB075857.1 AK056907.1 AK123371.1 AK123496.1 AK301683.1 BC032314.1 BC050387.1 NR_040252.1 

    14 DOTS entries:

    DT.97841053  DT.425369  DT.97841054  DT.100803894  DT.95160682  DT.97825352  DT.411625  DT.100705167 
    DT.120660424  DT.100704491  DT.120660443  DT.411624  DT.75147314  DT.91849868 

    24/109 AceView cDNA sequences (see all 109):

    CR624377 AB075857 AI560632 AI686618 AI982591 AI342763 BF373197 NM_133450 
    AI084348 AI623930 AK057329 BM687279 AK123371 BQ708528 AW079720 AK123496 
    CA432332 BF001153 BX371980 BU072139 AI372992 BG177947 AA477155 BE550443 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for ANKS3 (see all 18)    About this scheme

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

    ExUns: 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19
    SP1:              -                                 
    SP2:              -                                 
    SP3:              -                                 
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for ANKS3

    (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

    ANKS3 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 ANKS3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKS3

    SOURCE GeneReport for Unigene cluster: Hs.654859
        SABiosciences Custom PCR Arrays for ANKS3
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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 ANKS3 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ANKS31 ankyrin repeat and sterile alpha motif domain containing more 72.13(n)
    70.08(a)
      769431  XM_001231826.2  XP_001231827.2 
    lizard
    (Anolis carolinensis)
    Reptilia ANKS36
    --
    68(a)
    1 ↔ 1
    GL343518.1(251327-275315)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1721421 zgc:172142 61.75(n)
    58.44(a)
      100136846  NM_001114565.1  NP_001108037.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y39C12A.16
    --
    28(a)
    1 ↔ 1
    IV(12222848-12227030)


    ENSEMBL Gene Tree for ANKS3 (if available)
    TreeFam Gene Tree for ANKS3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKS3 gene
    FANK12  
    7 SIMAP similar genes for ANKS3 using alignment to 18 protein entries:     ANKS3_HUMAN (see all proteins):
    CDKN2C    DKFZp761E1322    MTPN    ANKRD6    OSBPL1A    TANC2
    ANKRD46

    ANKS3 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

    10/1007 NCBI SNPs in ANKS3 are shown (see all 1007    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1822173631,2
    --4746364(+) GGGCTG/TGGGAT 3 -- ds50010--------
    rs1871835631,2
    --4746376(+) TTCTTC/GGCTCT 3 -- ds50010--------
    rs8412171,2
    C,F,O,A,H,--4746392(+) CCTTAC/TCTTGA 3 -- ds500126Minor allele frequency- T:0.47MN NS EA NA CSA WA 2853
    rs1453175841,2
    --4746468(+) CTGCAC/TTGGCC 3 -- ds50010--------
    rs1425521281,2
    --4746504(+) CTGAGC/TCCTTC 3 -- ds50010--------
    rs65006281,2
    C,F,A,H,--4746591(+) CTCAGT/ATGGCA 3 -- ut31 nc-transcript-variant3Minor allele frequency- A:0.15NA CSA WA 128
    rs778251841,2
    --4746612(+) TATATA/GGATAC 3 -- ut31 nc-transcript-variant0--------
    rs799764361,2
    F,--4746684(+) CACGAG/CGTTCT 3 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.09WA 118
    rs1906338781,2
    --4746743(+) GGGCCA/GCAGCC 3 -- ut31 nc-transcript-variant0--------
    rs1817402321,2
    --4746770(+) CTGCCA/GGCTGC 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for ANKS3 (4746513 - 4784379 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ANKS3
         3 CNVs: 7110 23004 61491

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ANKS3 for disorders           About GeneDecksing

    1 disease for ANKS3:    About MalaCards
    ataxia


    Export disorders for ANKS3 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 ANKS3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ANKS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2, 3 Nagase T.... Ohara O. (2001)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (2006)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1 Beausoleil S.A.... Gygi S.P. (2006)
    5. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 124401 HGNC: 29422 AceView: KIAA1977 Ensembl:ENSG00000168096 euGenes: HUgn124401
    ECgene: ANKS3 H-InvDB: ANKS3

    (According to HUGE)
    About This Section
    HUGE: KIAA1977

    (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 ANKS3 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 ANKS3 gene:
    Search GeneIP for patents involving ANKS3

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



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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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