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ANKRD30B Gene

protein-coding   GIFtS: 36
GCID: GC18P014741

Ankyrin Repeat Domain 30B

  See 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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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 30B1 2
Serologically Defined Breast Cancer Antigen NY-BR-1.12 3
NY-BR-1.12
Ankyrin Repeat Domain-Containing Protein 30B2
Breast Cancer Antigen NY-BR-1.12

External Ids:    HGNC: 241651   Entrez Gene: 3748602   Ensembl: ENSG000001807777   UniProtKB: Q9BXX23   
ORGUL members:         

Export aliases for ANKRD30B gene to outside databases

Previous GC identifer: GC18U900189


(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 ANKRD30B Gene:
ANKRD30B (ankyrin repeat domain 30B) is a protein-coding gene. Diseases associated with ANKRD30B include breast cancer. 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:
NC_000018.10  NT_010859.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD30B gene promoter:
         AML1a   Nkx2-2   IRF-1   HNF-1A   NF-AT   NF-AT4   NF-AT2   HNF-1   NF-AT3   NF-AT1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ANKRD30B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD30B


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

Entrez Gene cytogenetic band: 18p11.21   Ensembl cytogenetic band:  18p11.21   HGNC cytogenetic band: 18p11.21

ANKRD30B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD30B gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P014741:  view genomic region     (about GC identifiers)

Start:
14,728,271 bp from pter      End:
14,852,737 bp from pter
Size:
124,467 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AN30B_HUMAN, Q9BXX2 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 30B  
Size: 1392 amino acids; 158049 Da
Sequence caution: Sequence=AAK27326.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAK27326.1; Type=Frameshift; Positions=120; Sequence=BAG57852.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: B4DGP1 F8WAG3 Q4G175
Alternative splicing: 2 isoforms:  Q9BXX2-1   Q9BXX2-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ANKRD30B: NX_Q9BXX2

Explore proteomics data for ANKRD30B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKRD30B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001138501.1  
    ENSEMBL proteins: 
     ENSP00000351875   ENSP00000463332   ENSP00000399031  

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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 Q9BXX2

    ProtoNet protein and cluster: Q9BXX2

    UniProtKB/Swiss-Prot: AN30B_HUMAN, Q9BXX2
    Similarity: Contains 5 ANK repeats


    ANKRD30B 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    ANKRD30B for ontologies           About GeneDecksing


    Animal Models:
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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
    nucleus3
    cytosol2
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    ANKRD30B for ontologies           About GeneDecksing


    (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 ANKRD30B
    Interactions:

        Search GeneGlobe Interaction Network for ANKRD30B

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    ANKRD30B for ontologies           About GeneDecksing



    (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
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    Browse Tocris compounds for ANKRD30B (AN30B)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ANKRD30B gene (2 alternative transcripts): 
    NM_001029862.1  NM_001145029.1  

    Unigene Cluster for ANKRD30B:

    Ankyrin repeat domain 30B
    Hs.567889  [show with all ESTs]
    Unigene Representative Sequence: NM_001145029
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000579292 ENST00000358984(uc010dlo.2 uc021uhy.1) ENST00000580206(uc010xak.2)
    ENST00000320584(uc010xal.1) ENST00000447268
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    Additional mRNA sequence: 

    AF269088.1 AK294693.1 

    2 DOTS entries:

    DT.97814302  DT.101972904 

    5 AceView cDNA sequences:

    BG717440 AF269088 BC028407 BE070069 BQ429618 

    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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    ANKRD30B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ANKRD30B Expression
    About this image

    ANKRD30B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKRD30B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567889

    UniProtKB/Swiss-Prot: AN30B_HUMAN, Q9BXX2
    Tissue specificity: Expressed in brain, breast and testis

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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 ANKRD30B gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    20(a)
    1 → many
    1(24064036-24111623)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    36(a)
    many ↔ many
    GL344195.1(38786-58936)
    zebrafish
    (Danio rerio)
    Actinopterygii ANKRD76
    ankyrin repeat domain 7
    10(a)
    1 → many
    25(3581527-3655709) ENSDARG00000013015
            Species with no ortholog for ANKRD30B

    ENSEMBL Gene Tree for ANKRD30B (if available)
    TreeFam Gene Tree for ANKRD30B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKRD30B gene
    POTEF2  POTEI2  ANKRD30A2  POTEB22  ANKRD362  ANKRD72  POTEB2  ANKRD30BL2  
    ANKRD20A32  POTEH2  LOC6442492  ENSG000002663022  ANKRD36C2  POTEJ2  POTEC2  ANKRD20A22  
    ANKRD262  POTEG2  ANKRD622  ANKRD18A2  POTEM2  ANKRD20A12  CCDC144A2  POTED2  
    POTEE2  ANKRD20A42  ANKRD18B2  LOC1002889662  
    Selected SIMAP similar genes for ANKRD30B using alignment to 1 protein entry:     AN30B_HUMAN(see all similar genes):
    PRED4    LOC338579    ANKRD26P1    ANKRD19P    ANKRD20A5P    ANKRD36BP1
    LOC254750    ANKRD7    ANKRD30BL    POTEF    ANKRD30A    DKFZp781D1722
    POTEA    POTEB    POTEG    POTEM    ANKRD36    MGC26718

    ANKRD30B for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for ANKRD30B (see all 10)
    PGOHUM00000262946 PGOHUM00000262972 PGOHUM00000249927 PGOHUM00000239014 PGOHUM00000250164


    (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 ANKRD30B (see all 2207)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998621561,2
    C,Funtested114848849(+) AAAAGG/AAACTG 2 /K /E mis11Minor allele frequency- A:0.00EU 593
    rs97974001,2
    C--14746364(+) CTGGGC/TGACAG 1 -- us2k10--------
    rs133815051,2
    C--14746365(+) TGGGCA/GACAGA 1 -- us2k12Minor allele frequency- G:0.25NA 4
    rs1430514111,2
    --14746421(+) AATTGA/TGAGTT 1 -- us2k10--------
    rs97095281,2
    C,F,H--14746505(+) ATGGAA/TAAAAG 1 -- us2k129Minor allele frequency- T:0.13NS EA NA WA CSA 2777
    rs97098141,2
    C,F,H--14746546(+) AATAAA/GTAACA 1 -- us2k1 tfbs325Minor allele frequency- G:0.13NS EA NA WA CSA 2344
    rs3765168411,2
    F--14746546(+) AATAA-/A/GTAACA 1 -- us2k11NS 40
    rs1180121271,2
    C,F--14746614(+) GTCTCT/CACAAC 1 -- us2k11Minor allele frequency- C:0.01NA 120
    rs725289741,2
    C--14746629(+) TAGAC-/GT/TG 
            
    TTTAT
    1 -- us2k11CSA 2
    rs455611341,2
    C--14746630(+) AGACT-/GTTTATT 1 -- us2k12Minor allele frequency- GT:0.07NS NA 42

    HapMap Linkage Disequilibrium report for ANKRD30B (14728271 - 14852737 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ANKRD30B (see all 29):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716842CNV Deletion23290073
    esv2429241CNV Deletion19546169
    esv2671401CNV Deletion23128226
    esv2107318CNV Deletion18987734
    esv2716843CNV Deletion23290073
    esv2716844CNV Deletion23290073
    esv1712682CNV Deletion17803354
    nsv436247CNV Deletion17901297
    esv2397925CNV Deletion18987734
    esv999230CNV Deletion20482838

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    (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.)
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    1 disease for ANKRD30B:    About MalaCards
    breast cancer


    ANKRD30B for disorders           About GeneDecksing


    Export disorders for ANKRD30B 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 ANKRD30B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ANKRD30B)
        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. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (Nature 2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 374860 HGNC: 24165 AceView: ANKRD30B Ensembl:ENSG00000180777 euGenes: HUgn374860
    ECgene: ANKRD30B H-InvDB: ANKRD30B

    (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 ANKRD30B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ANKRD30B 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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    Patent Information for ANKRD30B gene:
    Search GeneIP for patents involving ANKRD30B

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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