Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ANKRD54 Gene

protein-coding   GIFtS: 47
GCID: GC22M038226

Ankyrin Repeat Domain 54

  See related diseases
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

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 Domain 541 2
LIAR2 3 5
Lyn-Interacting Ankyrin Repeat Protein2 3
Ankyrin Repeat Domain-Containing Protein 542

External Ids:    HGNC: 251851   Entrez Gene: 1291382   Ensembl: ENSG000001001247   OMIM: 6133835   UniProtKB: Q6NXT13   
ORGUL members:         
NONCODE14:n410123      

Export aliases for ANKRD54 gene to outside databases

Previous GC identifers: GC22M036556 GC22M021193


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

GeneCards Summary for ANKRD54 Gene: 
ANKRD54 (ankyrin repeat domain 54) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with ANKRD54 include root resorption, and dental caries. GO annotations related to this gene include protein complex binding and protein kinase regulator activity. An important paralog of this gene is ANKRD2.

UniProtKB/Swiss-Prot: ANR54_HUMAN, Q6NXT1
Function: Plays an important role in regulating intracellular signaling events associated with erythroid terminal
differentiation (By similarity)




(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_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKRD54 gene promoter:
         Pax-5   NF-YA   NF-YC   CBF-C   CBF-A   CBF-B   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKRD54 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKRD54

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRD54


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

ANKRD54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD54 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M038226:  view genomic region     (about GC identifiers)

Start:
38,226,862 bp from pter      End:
38,240,438 bp from pter
Size:
13,577 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: ANR54_HUMAN, Q6NXT1 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 54  
Size: 300 amino acids; 32505 Da
Subunit: Interacts (via ankyrin repeat region) with LYN (via SH3-domain) in an activation-independent status of
LYN (By similarity). Forms a multiprotein complex with LYN and HCLS1 (By similarity). Interacts with TSN2, VAV1,
DBNL AND LASP1 (By similarity)
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity). Midbody (By similarity). Note=Shuttles
between nucleus and cytoplasm during the cell cycle. EPO stimulation induces nuclear accumulation (By similarity)
Secondary accessions: Q6ZSB1 Q9UGV1
Alternative splicing: 2 isoforms:  Q6NXT1-1   Q6NXT1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKRD54: NX_Q6NXT1

Explore proteomics data for ANKRD54 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6NXT1

  • ANKRD54 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ANKRD54 Protein Expression
    REFSEQ proteins: NP_620152.1  
    ENSEMBL proteins: 
     ENSP00000215941   ENSP00000384392   ENSP00000405782   ENSP00000412534   ENSP00000385180  
     ENSP00000391744   ENSP00000393035   ENSP00000387507  

    Human Recombinant Protein Products for ANKRD54: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ANKRD54
    OriGene Protein Over-expression Lysate for ANKRD54
    OriGene MassSpec for ANKRD54 
    OriGene Custom Protein Services for ANKRD54
    GenScript Custom Purified and Recombinant Proteins Services for ANKRD54
    Novus Biologicals ANKRD54 Proteins
    Novus Biologicals ANKRD54 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ANKRD54 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0030496midbody ISS--

    ANKRD54 for ontologies           About GeneDecksing



    ANKRD54 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ANKRD54
    OriGene Custom Antibody Services for ANKRD54
    GenScript Custom Superior Antibodies Services for ANKRD54
    Novus Biologicals ANKRD54 Antibodies
    Abcam antibodies for ANKRD54
    Cloud-Clone Corp. Antibodies for ANKRD54 
    ThermoFisher Antibodies for ANKRD54
    LSBio Antibodies in human, mouse, rat for ANKRD54 

    Assay Products for ANKRD54: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ANKRD54
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ANKRD54
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ANKRD54 
    Cloud-Clone Corp. CLIAs for ANKRD54


    (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 Q6NXT1

    ProtoNet protein and cluster: Q6NXT1

    UniProtKB/Swiss-Prot: ANR54_HUMAN, Q6NXT1
    Similarity: Contains 4 ANK repeats


    ANKRD54 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: ANR54_HUMAN, Q6NXT1
    Function: Plays an important role in regulating intracellular signaling events associated with erythroid terminal
    differentiation (By similarity)

         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:0019887protein kinase regulator activity IEA--
    GO:0032403protein complex binding IEA--
         
    ANKRD54 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ANKRD54 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ANKRD54

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANKRD54 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANKRD54 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANKRD54
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate ANKRD54 (see all 17):
    hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-4299 hsa-miR-512-3p hsa-miR-520a-3p hsa-miR-372 hsa-miR-520d-3p
    SwitchGear 3'UTR luciferase reporter plasmidANKRD54 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ANKRD54
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANKRD54

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ANKRD54
    Sirion Biotech Customized adenovirus for overexpression of ANKRD54

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ANKRD54 (see all 7)
    OriGene ORF clones in mouse, rat for ANKRD54
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ANKRD54 (NM_138797)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANKRD54
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKRD54
    Sirion Biotech Customized lentivirus for stable overexpression of ANKRD54 
                         Customized lentivirus expression plasmids for stable overexpression of ANKRD54 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ANKRD54
    Search LifeMap BioReagents cell lines for ANKRD54
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKRD54


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ANKRD54

    2 Interacting proteins for ANKRD54 (Q6NXT13) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITKQ088813I2D: score=1 
    LYNP079483I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006913nucleocytoplasmic transport IEA--
    GO:0007049cell cycle IEA--
    GO:0010627regulation of intracellular protein kinase cascade ISS--
    GO:0045648positive regulation of erythrocyte differentiation ISS--
    GO:0045859regulation of protein kinase activity ----

    ANKRD54 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 ANKRD54 (ANR54)

    Search CenterWatch for drugs/clinical trials and news about ANKRD54 / ANR54

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ANKRD54 gene: 
    NM_138797.2  

    Unigene Cluster for ANKRD54:

    Ankyrin repeat domain 54
    Hs.135259  [show with all ESTs]
    Unigene Representative Sequence: AK127583
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215941(uc003auc.3 uc003aud.3) ENST00000498417 ENST00000406423
    ENST00000411961 ENST00000458278 ENST00000407117 ENST00000464849 ENST00000413497
    ENST00000424350 ENST00000434930
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANKRD54
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate ANKRD54 (see all 17):
    hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-4299 hsa-miR-512-3p hsa-miR-520a-3p hsa-miR-372 hsa-miR-520d-3p
    SwitchGear 3'UTR luciferase reporter plasmidANKRD54 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ANKRD54
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANKRD54
    Clone
    Products:
         
    OriGene clones in human, mouse for ANKRD54 (see all 7)
    OriGene ORF clones in mouse, rat for ANKRD54
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ANKRD54 (NM_138797)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANKRD54
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKRD54
    Sirion Biotech Customized lentivirus for stable overexpression of ANKRD54 
                         Customized lentivirus expression plasmids for stable overexpression of ANKRD54 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ANKRD54
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ANKRD54
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANKRD54
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANKRD54

    Additional mRNA sequence: 

    AK127583.1 BC014641.1 BC066909.1 CR456471.1 NR_036556.1 

    17 DOTS entries:

    DT.102840386  DT.120636935  DT.452401  DT.95232856  DT.101969079  DT.100822988  DT.95232860  DT.101978165 
    DT.97768010  DT.120636921  DT.120637150  DT.95232851  DT.100700124  DT.100771270  DT.100822982  DT.120636952 
    DT.100705236 

    24/236 AceView cDNA sequences (see all 236):

    AI203323 BE673551 AW590390 AA670174 BQ427640 BU623733 BU157235 AW194448 
    BU632516 CR456471 CB853585 CR617257 CR595513 BX368923 BG764413 AA011085 
    CR592145 T31995 AW204144 BM782993 NM_138797 BU174080 CR600489 AI982911 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD54 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for ANKRD54

    (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

    ANKRD54 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTAATCCC
    ANKRD54 Expression
    About this image


    See ANKRD54 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKRD54

    SOURCE GeneReport for Unigene cluster: Hs.135259
        SABiosciences Custom PCR Arrays for ANKRD54
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ANKRD54
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ANKRD54
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANKRD54
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANKRD54
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKRD54

    (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 ANKRD54 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankrd541 , 5 ankyrin repeat domain 541, 5 87.51(n)1
    92.31(a)1
      15 (37.70 cM)5
    2236901  NM_144849.11  NP_659098.11 
     790530945 
    chicken
    (Gallus gallus)
    Aves ANKRD541 ankyrin repeat domain 54 77.42(n)
    86.69(a)
      418034  XM_416271.3  XP_416271.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKRD546
    Uncharacterized protein
    71(a)
    1 ↔ 1
    GL343460.1(14720-26111)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.42162 Xenopus laevis transcribed sequence with weak similarity more 77.24(n)    CA985578.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi33d092 Transcribed sequence with weak similarity to protein more 79.81(n)    BM265794.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG108096
    --
    23(a)
    1 → many
    3L(9850688-9852989)


    ENSEMBL Gene Tree for ANKRD54 (if available)
    TreeFam Gene Tree for ANKRD54 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKRD54 gene
    ANKRD22  PSMD102  ANKRD272  ANKRD232  ASB82  ANKRD12  ANKRD442  
    18/37 SIMAP similar genes for ANKRD54 using alignment to 8 protein entries:     ANR54_HUMAN (see all proteins) (see all similar genes):
    ANK2    ANKRD65    ANKDD1B    RAI14    ANK1    ASB2
    PPP1R12B    ANKRD6    CDKN2A    ANK3    ANKRD60    HACE1
    OSBPL1A    PLA2G6    ANKRD12    ANKRD28    ANKRD7    CDKN2B

    ANKRD54 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ANKRD54
    PGOHUM00000238445


    (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

    10/298 SNPs in ANKRD54 are shown (see all 298)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs605630701,2
    C,F--38226471(+) CTAGGT/CTCTAT 2 -- int11Minor allele frequency- C:0.03WA 118
    rs1824106121,2
    C--38226494(+) GATCTG/TAGCCA 2 -- int10--------
    rs1167750771,2
    F--38226585(+) GCAGAG/ACCAGG 2 -- int11Minor allele frequency- A:0.02WA 118
    rs1874461961,2
    --38226589(+) AGCCAA/GGCGGG 2 -- int10--------
    rs1405951301,2
    --38226599(+) GACACA/GGACTG 2 -- int10--------
    rs1456574811,2
    --38226608(+) TGATCA/GCCTGG 2 -- int10--------
    rs1147835191,2
    C,F--38226836(+) TTGCTG/ACTGCA 2 -- int11Minor allele frequency- A:0.06WA 118
    rs1177733721,2
    C,F--38226922(+) TAAAAT/CTAGCC 2 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.02EA 120
    rs1919916541,2
    --38227086(+) CTCCCA/GTCACC 2 -- ut31 nc-transcript-variant0--------
    rs1451874881,2
    --38227114(+) GACCCA/GGGTGA 2 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for ANKRD54 (38226862 - 38240438 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ANKRD54:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2666189CNV Deletion23128226
    dgv4966n71CNV Loss21882294
    nsv915035CNV Loss21882294
    dgv4965n71CNV Loss21882294
    dgv1406e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ANKRD54
    DNA2.0 Custom Variant and Variant Library Synthesis for ANKRD54

    (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
    OMIM gene information: 613383    OMIM disorders: --

    2 diseases for ANKRD54:    About MalaCards
    root resorption    dental caries


    ANKRD54 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ANKRD54

    Export disorders for ANKRD54 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 ANKRD54 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with ANKRD54)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2, 3 Collins J.E.... Dunham I. (2004)
    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. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (2013)
    6. Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin rep eat domain 54 (ANKRD54). (PubMed id 22527282)1 Gustafsson M.O....Nore B.F. (2012)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    10. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (2009)

    (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: 129138 HGNC: 25185 AceView: LOC129138 Ensembl:ENSG00000100124 euGenes: HUgn129138
    ECgene: ANKRD54 H-InvDB: ANKRD54

    (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 ANKRD54 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 ANKRD54 gene:
    Search GeneIP for patents involving ANKRD54

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ANKRD54   OriGene RNAi products in human, mouse, rat for ANKRD54  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ANKRD54  
     OriGene MassSpec something-or-other for ANKRD54   OriGene clones in human, mouse for ANKRD54  
     OriGene qSTAR qPCR primer pairs in human, mouse for ANKRD54   OriGene Purified Protein for ANKRD54  
     OriGene ORF clones in mouse, rat for ANKRD54   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ANKRD54   OriGene Custom Protein Services for ANKRD54  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ANKRD54
     QIAGEN SeqTarget long-range PCR primers for resequencing ANKRD54
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRD54
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANKRD54
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANKRD54
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANKRD54
     GenScript Custom Purified and Recombinant Proteins Services for ANKRD54 GenScript cDNA clones with any tag delivered in your preferred vector for ANKRD54
     GenScript Custom Assay Services for ANKRD54 GenScript Custom Superior Antibodies Services for ANKRD54
     GenScript Custom overexpressing Cell Line Services for ANKRD54 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ANKRD54 promoter
     Search Chromatin IP Primers for ANKRD54
     RT2 qPCR Primer Assay in human, mouse, rat ANKRD54
     Search GNC Networks for ANKRD54
     SABiosciences Custom PCR Arrays for ANKRD54
     Search Tocris compounds for ANKRD54 (ANR54)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ANKRD54 antibodies
     ANKRD54 proteins
     ANKRD54 lysates
     Antibodies for ANKRD54
     See all of Abcam's Antibodies, Kits and Proteins for ANKRD54
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for ANKRD54
     Antibodies for ANKRD54
     ELISAs for ANKRD54
     CLIAs for ANKRD54
     Search LifeMap BioReagents cell lines for ANKRD54
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKRD54
     SwitchGear 3'UTR luciferase reporter plasmids for ANKRD54
     SwitchGear Promoter luciferase reporter plasmids for ANKRD54
     ThermoFisher Antibodies for ANKRD54
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKRD54
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ANKRD54
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ANKRD54
    Customized:
     lentivirus for stable overexpression of ANKRD54
     lentivirus expression plasmids for stable overexpression of ANKRD54
     adenovirus for overexpression of ANKRD54
     LSBio Antibodies in human, mouse, rat for ANKRD54
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ANKRD54 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4