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ANKRD30A Gene

protein-coding   GIFtS: 50
GCID: GC10P037414

Ankyrin Repeat Domain 30A

  See ANKRD30A-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ankyrin Repeat Domain 30A1 2
Breast Cancer Antigen NY-BR-11 2
Serologically Defined Breast Cancer Antigen NY-BR-12 3
NY-BR-12
Ankyrin Repeat Domain-Containing Protein 30A2

External Ids:    HGNC: 172341   Entrez Gene: 910742   Ensembl: ENSG000001485137   OMIM: 6108565   UniProtKB: Q9BXX33   

Export aliases for ANKRD30A gene to outside databases

Previous GC identifers: GC10P037419 GC10P037454 GC10P037134


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ANKRD30A Gene:
ANKRD30A (ankyrin repeat domain 30A) is a protein-coding gene. Diseases associated with ANKRD30A include breast cancer. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is POTEF.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD30A gene promoter:
         Sox5   Pbx1a   Pax-6   Nkx2-2   FOXD1   HNF-1A   POU2F1   COMP1   POU2F1a   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKRD30A promoter sequence
   Search Chromatin IP Primers for ANKRD30A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD30A


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

Entrez Gene cytogenetic band: 10p11.21   Ensembl cytogenetic band:  10p11.21   HGNC cytogenetic band: 10p11.21

ANKRD30A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD30A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P037414:  view genomic region     (about GC identifiers)

Start:
37,414,785 bp from pter      End:
37,673,039 bp from pter
Size:
258,255 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AN30A_HUMAN, Q9BXX3 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 30A  
Size: 1397 amino acids; 158835 Da
Caution: It is uncertain whether Met-1 or Met-57 is the initiator
Sequence caution: Sequence=AAK27325.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAH71320.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI16567.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q5W025

Explore the universe of human proteins at neXtProt for ANKRD30A: NX_Q9BXX3

Explore proteomics data for ANKRD30A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKRD30A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_443723.2  
    ENSEMBL proteins: 
     ENSP00000363792   ENSP00000473551   ENSP00000354432  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9BXX3

    ProtoNet protein and cluster: Q9BXX3

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: AN30A_HUMAN, Q9BXX3
    Similarity: Contains 6 ANK repeats


    Find genes that share domains with ANKRD30A           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS11280766
    GO:0003700sequence-specific DNA binding transcription factor activity NAS11280766
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ANKRD30A           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for ANKRD30A:
     Decreased p24 protein expressi  Increased gamma-H2AX phosphory  Increased homologous recombina  Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANKRD30A
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    miRNA
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    miRTarBase miRNAs that target ANKRD30A:
    hsa-mir-335-5p (MIRT019048)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11280766

    Find genes that share ontologies with ANKRD30A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANKRD30A
    Interactions:

        Search GeneGlobe Interaction Network for ANKRD30A

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

    1 Interacting protein for ANKRD30A (ENSP000003544324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated NAS11280766

    Find genes that share ontologies with ANKRD30A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ANKRD30A (AN30A)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ANKRD30A gene: 
    NM_052997.2  

    Unigene Cluster for ANKRD30A:

    Ankyrin repeat domain 30A
    Hs.373787  [show with all ESTs]
    Unigene Representative Sequence: AF269087
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374660(uc001iza.1) ENST00000602533 ENST00000475522 ENST00000361713(uc021ppc.1)

    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat ANKRD30A

    Additional mRNA sequence: AF269087.1 

    5 DOTS entries:

    DT.99948140  DT.75197678  DT.121234778  DT.121234781  DT.91744003 

    4 AceView cDNA sequences:

    BF746340 BF746270 AI951118 BF328582 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ANKRD30A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTCTTCCT
    ANKRD30A Expression
    About this image

    ANKRD30A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKRD30A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.373787

    UniProtKB/Swiss-Prot: AN30A_HUMAN, Q9BXX3
    Tissue specificity: Mainly expressed in breast and testis. A very faint signal is detected in placenta. Also
    expressed in many breast cancer cells

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ANKRD30A gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    19(a)
    1 → many
    1(24064036-24111623)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    31(a)
    many ↔ many
    GL344195.1(38786-58936)
    zebrafish
    (Danio rerio)
    Actinopterygii ANKRD76
    ankyrin repeat domain 7
    11(a)
    1 → many
    25(3581527-3655709) ENSDARG00000013015
            Species with no ortholog for ANKRD30A

    ENSEMBL Gene Tree for ANKRD30A (if available)
    TreeFam Gene Tree for ANKRD30A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKRD30A gene
    POTEF2  POTEI2  POTEB22  ANKRD362  ANKRD72  POTEB2  ANKRD30BL2  ANKRD20A32  
    POTEH2  ANKRD30B2  LOC6442492  ENSG000002663022  ANKRD36C2  POTEJ2  POTEC2  ANKRD20A22  
    ANKRD262  POTEG2  ANKRD622  ANKRD18A2  POTEM2  ANKRD20A12  CCDC144A2  POTED2  
    POTEE2  ANKRD20A42  ANKRD18B2  LOC1002889662  
    7 SIMAP similar genes for ANKRD30A using alignment to 3 protein entries:     AN30A_HUMAN (see all proteins):
    PRED4    ANKRD19P    ANKRD36BP1    ANKRD30BL    DKFZp781D1722    ANKRD30B
    POTEA

    Find genes that share paralogs with ANKRD30A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ANKRD30A
    PGOHUM00000238762


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ANKRD30A (see all 2528)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356114
    A breast cancer sample4--see VAR_0356112 Q E mis40--------
    rs1840329751,2
    --37412790(+) CTGGGC/TGACAA 1 -- us2k10--------
    rs122212531,2
    C,F,H--37412799(+) aagaaC/Ttaaac 1 -- us2k18Minor allele frequency- T:0.01NS NA 1020
    rs1890111721,2
    --37412850(+) AGGCAC/TGGTGT 1 -- us2k10--------
    rs1995692401,2
    --37412967(+) ATATA-/TAAAAA 1 -- us2k10--------
    rs1917634341,2
    C--37412968(+) ATATAA/TAAAAA 1 -- us2k10--------
    rs1827152771,2
    --37413056(+) AGGACA/GCGGAG 1 -- us2k10--------
    rs1870453181,2
    C--37413113(+) AGAGCA/GAGACT 1 -- us2k10--------
    rs578940121,2
    C--37413138(+) AAAAAAAAAAA  
     AAAAA
    /-
    GAAAA
    1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs79088871,2
    C,A--37413139(+) aaaaaA/Gaaaaa 1 -- us2k1 trp30--------

    HapMap Linkage Disequilibrium report for ANKRD30A (37414785 - 37664785 bp, first 250kb of ANKRD30A)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ANKRD30A (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735572CNV Deletion23290073
    esv2735517CNV Deletion23290073
    esv995125CNV Deletion20482838
    nsv820758CNV Duplication20802225
    nsv509351CNV Insertion20534489
    nsv819536CNV Insertion19587683
    nsv6410CNV Insertion18451855
    nsv6421CNV Insertion18451855
    nsv895021CNV Loss21882294
    nsv819914CNV Loss19587683

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 610856    OMIM disorders: --

    1 disease for ANKRD30A:    
    About MalaCards
    breast cancer


    Find genes that share disorders with ANKRD30A           About GenesLikeMe

    Genetic Association Database (GAD): ANKRD30A
    Human Genome Epidemiology (HuGE) Navigator: ANKRD30A (2 documents)

    Export disorders for ANKRD30A 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)
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    PubMed articles for ANKRD30A gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with ANKRD30A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a tissue-specific putative transcription factor in breast tissue by serological screening of a breast cancer library. (PubMed id 11280766)1, 2, 3 Jaeger D.... Chen Y.-T. (Cancer Res. 2001)
    2. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    3. Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. (PubMed id 19043545)1, 4 Gieger C....Suhre K. (PLoS Genet. 2008)
    4. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)1, 4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    7. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    8. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    9. Cancer testis antigens and NY-BR-1 expression in primary breast cancer: prognostic and therapeutic implications. (PubMed id 23731661)1 Balafoutas D....Stickeler E. (BMC Cancer 2013)
    10. Genome-wide association study of periodontal pathogen colonization. (PubMed id 22699663)1 Divaris K....Offenbacher S. (J. Dent. Res. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 91074 HGNC: 17234 AceView: ANKRD30A Ensembl:ENSG00000148513 euGenes: HUgn91074
    ECgene: ANKRD30A H-InvDB: ANKRD30A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ANKRD30A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ANKRD30A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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