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

ANKRD49 Gene

protein-coding   GIFtS: 47
GCID: GC11P094227

ankyrin repeat domain 49

  Search for ANKRD49
in our new
 Human Malady Compendium 
Biological research products
for ANKRD49
    

(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 491 2
FGIF1 2 3
GBIF1 2
Fetal Globin-Inducing Factor2 3
FLJ201891
Ankyrin Repeat Domain-Containing Protein 492

External Ids:    HGNC: 259701   Entrez Gene: 548512   Ensembl: ENSG000001688767   UniProtKB: Q8WVL73   

Export aliases for ANKRD49 gene to outside databases

Previous GC identifers: GC11P093867 GC11P090292


(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_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKRD49 gene promoter:
         HOXA9B   HOXA9   AML1a   POU6F1 (c2)   Meis-1b   PPAR-gamma1   PPAR-gamma2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKRD49 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKRD49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRD49


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

Entrez Gene cytogenetic band: 11q21   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q21

ANKRD49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD49 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P094227:  view genomic region     (about GC identifiers)

Start:
94,226,795 bp from pter      End:
94,232,749 bp from pter
Size:
5,955 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: ANR49_HUMAN, Q8WVL7 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 49  
Size: 239 amino acids; 27290 Da
Secondary accessions: Q8NDF2 Q96JE5 Q9NXK7

Explore the universe of human proteins at neXtProt for ANKRD49: NX_Q8WVL7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WVL7

  • ANKRD49 Protein expression data from MOPED and PaxDb:    About this image 
    ANKRD49 Protein Expression
    REFSEQ proteins: NP_060174.2  
    ENSEMBL proteins: 
     ENSP00000440396   ENSP00000438506   ENSP00000444030   ENSP00000442449   ENSP00000441877  
     ENSP00000445597   ENSP00000446433   ENSP00000439200   ENSP00000303518  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ANKRD49

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IC16131492

    ANKRD49 for ontologies           About GeneDecksing



    ANKRD49 Antibody Products: 
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    Uscn ELISAs and CLIAs for ANKRD49


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

    ANKRD49 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q8WVL7

    ProtoNet protein and cluster: Q8WVL7

    1 Blocks protein family: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: ANR49_HUMAN, Q8WVL7
    Similarity: Contains 4 ANK repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for ANKRD49:
     Decreased viability of wild-ty 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ANKRD49 

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    hsa-miR-607 hsa-let-7d hsa-miR-29a hsa-miR-342-3p hsa-miR-650 hsa-let-7g hsa-let-7a hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidANKRD49 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: ANKRD49
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKRD49


    (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 ANKRD49

    2 Interacting proteins for ANKRD49 (Q8WVL73) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EWSR1Q018443I2D: score=1 
    NFE2Q166213I2D: score=1 
    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:0045893positive regulation of transcription, DNA-dependent IDA11162141

    ANKRD49 for ontologies           About GeneDecksing



    (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 ANKRD49
    Search CenterWatch for drugs/clinical trials and news about ANKRD49 / ANR49 

    (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, Sirion Biotech, 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 ANKRD49 gene: 
    NM_017704.2  

    Unigene Cluster for ANKRD49:

    Ankyrin repeat domain 49
    Hs.29052  [show with all ESTs]
    Unigene Representative Sequence: AL833977
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000544612(uc001pew.3) ENST00000540349 ENST00000534911 ENST00000535502
    ENST00000545130 ENST00000544514 ENST00000544253(uc001pex.3) ENST00000541144
    ENST00000302755 ENST00000539883 ENST00000538535(uc001pey.3)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANKRD49
    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate ANKRD49 (see all 32):
    hsa-miR-607 hsa-let-7d hsa-miR-29a hsa-miR-342-3p hsa-miR-650 hsa-let-7g hsa-let-7a hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidANKRD49 3' UTR sequence
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANKRD49 (see all 7)
    OriGene shRNA RFP: ANKRD49
    OriGene siRNA: ANKRD49
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANKRD49
    Sirion Biotech Custom design and validation of potent shRNA sequences against ANKRD49 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANKRD49
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANKRD49

    Additional cDNA sequence: 

    AF025354.1 AK000196.1 AK000448.1 AK057696.1 AL833977.1 BC017798.1 

    7 DOTS entries:

    DT.101961674  DT.212411  DT.100020218  DT.100782064  DT.86852984  DT.120701070  DT.120812359 

    24/99 AceView cDNA sequences (see all 99):

    AI273656 AI824504 BF791893 AA811579 CR609043 AW194169 AI673304 AW273349 
    AI861888 AA768384 NM_017704 AA812179 CN481781 AK057696 BQ575085 AI698788 
    AA502756 CB216066 CA313383 AA768837 AA971763 BF328964 AL833977 AW665337 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD49 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for ANKRD49

    (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

    ANKRD49 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACACAACTA
    ANKRD49 Expression
    About this image
    See ANKRD49 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKRD49

    SOURCE GeneReport for Unigene cluster: Hs.29052

    UniProtKB/Swiss-Prot: ANR49_HUMAN, Q8WVL7
    Tissue specificity: Widely expressed in fetus, at a high level in fetal liver, brain and lung

        SABiosciences Custom PCR Arrays for ANKRD49
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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 ANKRD49 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankrd491 , 5 ankyrin repeat domain 491, 5 88.66(n)1
    87.82(a)1
      9 (4.33 cM)5
    565031  NM_019683.31  NP_062657.21 
     147802095 
    chicken
    (Gallus gallus)
    Aves ANKRD491 ankyrin repeat domain 49 74.14(n)
    72.41(a)
      418997  XM_003640591.1  XP_003640639.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKRD496
    --
    72(a)
    1 ↔ 1
    3(195877913-195881439)
    zebrafish
    (Danio rerio)
    Actinopterygii ankrd491 ankyrin repeat domain 49 55.35(n)
    55.81(a)
      550246  NM_001017584.1  NP_001017584.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)35Be1 lethal (2) 35Be 52.63(n)
    45.61(a)
      34874  NM_135891.3  NP_609735.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F26F4.121 Protein F26F4.12 47.68(n)
    42.42(a)
      175656  NM_065629.2  NP_498030.1 


    ENSEMBL Gene Tree for ANKRD49 (if available)
    TreeFam Gene Tree for ANKRD49 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKRD49 gene
    6 SIMAP similar genes for ANKRD49 using alignment to 6 protein entries:     ANR49_HUMAN (see all proteins):
    ANKRD44    ANKRD12    IkBa    ANKRD29    PPP1R12A    ANKRD54

    ANKRD49 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for ANKRD49
    PGOHUM00000256694 PGOHUM00000240539 PGOHUM00000235767 PGOHUM00000232972


    (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

    10/61 NCBI SNPs in ANKRD49 are shown (see all 61    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1500359731,2
    --94229042(+) AAGACA/GTGGAT 1 -- int10--------
    rs1928611621,2
    --94229053(+) CTTGCG/TCATTA 1 -- int10--------
    rs1854738921,2
    --94229154(+) AAAACA/GAGGAC 1 -- int10--------
    rs1895317731,2
    --94229283(+) AGATAC/TATGTA 1 -- int10--------
    rs1916414771,2
    --94229447(+) CTTCAC/TTGTAT 1 -- int10--------
    rs361114671,2
    C,F--94229477(+) TTAAGC/TATTCA 1 -- int15Minor allele frequency- T:0.05NA WA 244
    rs5401991,2
    C,F,A,H--94229665(+) AAACAA/GGAGTT 1 -- int19Minor allele frequency- G:0.31EA NA NS CSA WA 536
    rs1472972731,2
    --94229686(+) TTAATC/TGTATA 1 -- int10--------
    rs1181815601,2
    F--94229707(+) ACTTAT/CCTATG 1 -- int11Minor allele frequency- C:0.02NA 120
    rs1154788791,2
    F--94229746(+) ACTAAT/AAACTT 1 -- int11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for ANKRD49 (94226795 - 94232749 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ANKRD49
         1 CNV: 85953
         1 Indel: 58542

    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

    ANKRD49 for disorders           About MalaCards

    ANKRD49 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: ANKRD49 (2 documents)

    Export disorders for ANKRD49 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 ANKRD49 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ANKRD49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a potential transcriptional activator of human gamma-globin genes. (PubMed id 11162141)1, 2, 3 Yang Y....Stamatoyannopoulos G. (2001)
    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. {gamma}-Globin gene expression in chemical inducer of dimerization (CID)-dependent multipotential cells established from human {beta}-globin locus yeast artificial chromosome ({beta}-YAC) transgenic mice. (PubMed id 16131492)1, 9 Blau C.A....Peterson K.R. (2005)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1 Hosgood H.D....Lan Q. (2009)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. 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)
    10. hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. (PubMed id 11371508)1 Pitts S.A....Byrd P.J. (2001)

    (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: 54851 HGNC: 25970 AceView: FGIF Ensembl:ENSG00000168876 euGenes: HUgn54851
    ECgene: ANKRD49 H-InvDB: ANKRD49

    (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 ANKRD49 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 ANKRD49 gene:
    Search GeneIP for patents involving ANKRD49

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



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