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

ANKRD44 Gene

protein-coding   GIFtS: 44
GCID: GC02M197832

ankyrin repeat domain 44

 Explore 2 diseases affiliated with
ANKRD44 via our new
 Human Malady Compendium 
Biological research products
for ANKRD44
    

(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 441 2
PP6-ARS-B1 2 3
Ankyrin Repeat Domain-Containing Protein 442 3
Serine/Threonine-Protein Phosphatase 6 Regulatory Subunit ARS-B2 3
Protein Phosphatase 6 Ankyrin Repeat Subunit B2
Serine/Threonine-Protein Phosphatase 6 Regulatory Ankyrin Repeat Subunit B2

External Ids:    HGNC: 252591   Entrez Gene: 915262   Ensembl: ENSG000000654137   UniProtKB: Q8N8A23   

Export aliases for ANKRD44 gene to outside databases

Previous GC identifers: GC02M197657 GC02M197539 GC02M197567 GC02M189712


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

UniProtKB/Swiss-Prot: ANR44_HUMAN, Q8N8A2
Function: Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of
phosphoprotein substrates




(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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKRD44 gene promoter:
         SRF   SRF (504 AA)   POU6F1 (c2)   HNF-1A   MEF-2A   S8   FOXC1   HNF-1   aMEF-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKRD44 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKRD44

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRD44


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

Entrez Gene cytogenetic band: 2q33.1   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.1

ANKRD44 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD44 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M197832:  view genomic region     (about GC identifiers)

Start:
197,831,741 bp from pter      End:
198,175,897 bp from pter
Size:
344,157 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: ANR44_HUMAN, Q8N8A2 (See protein sequence)
Recommended Name: Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B  
Size: 993 amino acids; 107603 Da
Subunit: Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic
subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS).
Interacts with PPP6R1
Secondary accessions: Q53SL9 Q6P480 Q86VL5 Q8IZ72 Q9UFA4
Alternative splicing: 5 isoforms:  Q8N8A2-1   Q8N8A2-2   Q8N8A2-3   Q8N8A2-4   Q8N8A2-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKRD44: NX_Q8N8A2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N8A2

  • ANKRD44 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182073.1  NP_710181.2  

    ENSEMBL proteins: 
     ENSP00000403415   ENSP00000413091   ENSP00000331516   ENSP00000416319   ENSP00000387141  
     ENSP00000387233   ENSP00000405983   ENSP00000399895   ENSP00000282272   ENSP00000402420  
     ENSP00000338794   ENSP00000437825  

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

    ANKRD44 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q8N8A2

    ProtoNet protein and cluster: Q8N8A2

    UniProtKB/Swiss-Prot: ANR44_HUMAN, Q8N8A2
    Similarity: Contains 28 ANK 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

    Function Summary:

         UniProtKB/Swiss-Prot: ANR44_HUMAN, Q8N8A2
    Function: Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of
    phosphoprotein substrates

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    hsa-miR-579 hsa-miR-640 hsa-miR-607 hsa-miR-199a-3p hsa-miR-4272 hsa-miR-605 hsa-miR-200a hsa-miR-938
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16555005


    ANKRD44 for ontologies           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 ANKRD44

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

    5/8 Interacting proteins for ANKRD44 (Q8N8A21, 2, 3 ENSP000003315164) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP6CO007432, 3, ENSP000003921474MINT-8287516 I2D: score=1 STRING: ENSP00000392147
    PPP6R1Q9UPN72, 3, ENSP000004142024MINT-8287516 I2D: score=1 STRING: ENSP00000414202
    PLK1P533503, ENSP000003000934I2D: score=2 STRING: ENSP00000300093
    ANKRD28O150842MINT-8287516
    ANKRD52Q8NB462MINT-8287516
    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 ANKRD44
    Search CenterWatch for drugs/clinical trials and news about ANKRD44 / ANR44 

    (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 ANKRD44 gene (2 alternative transcripts): 
    NM_001195144.1  NM_153697.2  

    Unigene Cluster for ANKRD44:

    Ankyrin repeat domain 44
    Hs.432706  [show with all ESTs]
    Unigene Representative Sequence: AL833063
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000424317(uc002utz.4) ENST00000448801 ENST00000493808 ENST00000486006
    ENST00000328737 ENST00000422886 ENST00000409153(uc002uub.3 uc010zgw.2)
    ENST00000477852 ENST00000473081 ENST00000409919(uc002uuc.3) ENST00000447713
    ENST00000443014 ENST00000463879(uc002uud.2) ENST00000282272(uc021vuj.1)
    ENST00000450567(uc021vuk.1) ENST00000337207 ENST00000539527

    miRNA
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    8/106 QIAGEN miScript miRNA Assays for microRNAs that regulate ANKRD44 (see all 106):
    hsa-miR-579 hsa-miR-640 hsa-miR-607 hsa-miR-199a-3p hsa-miR-4272 hsa-miR-605 hsa-miR-200a hsa-miR-938
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    Additional cDNA sequence: 

    AK021632.1 AK301209.1 AL133087.1 AL833063.2 BC050586.2 BC063622.1 

    11 DOTS entries:

    DT.212376  DT.100667061  DT.91750429  DT.101963356  DT.92050239  DT.307516  DT.92050748  DT.120969590 
    DT.100020397  DT.95365170  DT.91678032 

    24/133 AceView cDNA sequences (see all 133):

    BX485775 BX952184 AA232641 BU069309 AA233707 BX485776 BQ694574 AA361303 
    AI655448 BX404859 AU136187 BC063622 AW005342 AA329447 AL048481 AA927336 
    AI492729 AA687278 AI051491 AI476197 AW151493 BE048109 H89586 AA909908 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD44    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
    SP1:                                                                    -                                                                             -         
    SP2:              -     -     -     -     -     -                       -                                                                                       
    SP3:                                                                                                                                                            
    SP4:              -     -     -     -     -     -                                                                                                               

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      


    ECgene alternative splicing isoforms for ANKRD44

    (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

    ANKRD44 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 ANKRD44 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKRD44

    SOURCE GeneReport for Unigene cluster: Hs.432706
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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 ANKRD44 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ANKRD441 ankyrin repeat domain 44 82.36(n)
    90.4(a)
      424055  NM_001012915.1  NP_001012933.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKRD446
    --
    35(a)
    1 ↔ 1
    GL343280.1(92307-218374)
    zebrafish
    (Danio rerio)
    Actinopterygii ankrd441 ankyrin repeat domain 44 66.31(n)
    72.04(a)
      561373  XM_684783.2  XP_689875.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta nompC6
    no mechanoreceptor potential C
    5(a)
    possible ortholog
    2L(5342321-5365760)
    rice
    (Oryza sativa)
    Liliopsida --
    ankyrin repeat domain-containing protein 50, putat...
    9(a)
    possible ortholog
    3(25568429-25570099)


    ENSEMBL Gene Tree for ANKRD44 (if available)
    TreeFam Gene Tree for ANKRD44 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKRD44 gene
    TANC22  TNKS22  ANKRD172  ANK32  ANKHD12  ANK12  ANKRD522  ANKHD1-EIF4EBP32  
    TNKS2  ANKRD502  TANC12  INVS2  ANKRD282  ANK22  
    18/57 SIMAP similar genes for ANKRD44 using alignment to 9 protein entries:     ANR44_HUMAN (see all proteins) (see all similar genes):
    LOC91526    ANKRD28    ANKRD52    PPP1R27    MIB2    NRARP
    IkBa    TNKS    PPP1R12B    ANK1    OSBPL1A    KIDINS220
    ANKRD7    ANK3    ANKRD20A5P    ANKRD49    BARD1    FANK1

    ANKRD44 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

    10/5366 NCBI SNPs in ANKRD44 are shown (see all 5366    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs173846221,2
    C,F,H,--197850906(+) TATCAC/GGTCTT 1 -- ds500111Minor allele frequency- G:0.04NA NS EA WA 804
    rs134312611,2
    C,F,--197851008(+) gtggtG/Acacat 1 -- ds50014Minor allele frequency- A:0.13NA WA CSA 124
    rs1470209241,2
    C,--197851116(+) CCTGG-/ACAACA 1 -- ds50010--------
    rs1457114131,2
    --197851130(+) CAGAAA/GAAAAC 1 -- ds50010--------
    rs1382987931,2
    --197851210(+) CAAGCA/GTATAT 1 -- ds50010--------
    rs1412823291,2
    --197851231(+) TTTCTC/GTAATT 1 -- ds50010--------
    rs1879497661,2
    --197851258(+) AAATCA/GTGAAT 1 -- ds50010--------
    rs1930507541,2
    --197851302(+) AATTTA/GAAGTT 1 -- ds50010--------
    rs1851751901,2
    --197851424(+) AAATAA/GCCATC 1 -- ut310--------
    rs1880920081,2
    --197851447(+) CATAGC/TATATT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ANKRD44 (197831741 - 198081741 bp, first 250kb of ANKRD44)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ANKRD44: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANKRD44
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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

    ANKRD44 for disorders           About GeneDecksing

    2 diseases for ANKRD44:    About MalaCards
    sarcoma    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: ANKRD44 (2 documents)

    Export disorders for ANKRD44 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 ANKRD44 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with ANKRD44)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. (PubMed id 18186651)1, 2 Stefansson B.... Brautigan D.L. (2008)
    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. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Protein phosphatase 6 regulates mitotic spindle forma tion by controlling the T-loop phosphorylation state of Aurora A bound to its a ctivator TPX2. (PubMed id 21187329)1 Zeng K....Gruneberg U. (2010)
    8. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1 Trynka G....Wijmenga C. (2009)
    9. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. (PubMed id 19596235)1 Svendsen J.M.... Harper J.W. (2009)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)

    (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)
    About This Section
    Entrez Gene: 91526 HGNC: 25259 AceView: LOC91526 Ensembl:ENSG00000065413 euGenes: HUgn91526
    ECgene: ANKRD44 H-InvDB: ANKRD44

    (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 ANKRD44 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 ANKRD44 gene:
    Search GeneIP for patents involving ANKRD44

    GeneCards and IP:
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