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ANKRD18A Gene

protein-coding   GIFtS: 44
GCID: GC09M038603

Ankyrin Repeat Domain 18A

  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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Aliases
Ankyrin Repeat Domain 18A1 2
Ankyrin Repeat Domain-Containing Protein 18A2
KIAA20153

External Ids:    HGNC: 236431   Entrez Gene: 2536502   Ensembl: ENSG000001800717   UniProtKB: Q8IVF63   

Export aliases for ANKRD18A gene to outside databases

Previous GC identifers: GC09U900260 GC09M038531 GC09M038532 GC09M038544 GC09M038524 GC09M038546 GC09M038549 GC09M038555 GC09M038563 GC09M038588


(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 ANKRD18A Gene:
ANKRD18A (ankyrin repeat domain 18A) is a protein-coding gene. Diseases associated with ANKRD18A include lung 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_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD18A gene promoter:
         FOXI1   HFH-3   POU2F1   COMP1   POU2F1a   FOXD3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ANKRD18A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD18A


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

Entrez Gene cytogenetic band: 9p13.1   Ensembl cytogenetic band:  9p13.1   HGNC cytogenetic band: 9p13.1

ANKRD18A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD18A gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M038603:  view genomic region     (about GC identifiers)

Start:
38,540,566 bp from pter      End:
38,620,657 bp from pter
Size:
80,092 bases      Orientation:
minus 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: AN18A_HUMAN, Q8IVF6 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 18A  
Size: 992 amino acids; 115597 Da
Sequence caution: Sequence=AAH56266.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAC23111.1; Type=Erroneous initiation;
Secondary accessions: A7MD11 A8MVU5 Q5SY86 Q7Z468

Explore the universe of human proteins at neXtProt for ANKRD18A: NX_Q8IVF6

Explore proteomics data for ANKRD18A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKRD18A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_671728.2  
    ENSEMBL proteins: 
     ENSP00000473463   ENSP00000382610   ENSP00000326555   ENSP00000477435  

    ANKRD18A Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for ANKRD18A

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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

    3 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR021885 DUF3496
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8IVF6

    ProtoNet protein and cluster: Q8IVF6

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: AN18A_HUMAN, Q8IVF6
    Similarity: Contains 5 ANK repeats


    ANKRD18A 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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    ANKRD18A for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANKRD18A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANKRD18A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANKRD18A

    miRNA
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    miRTarBase miRNAs that target ANKRD18A:
    hsa-mir-25-3p (MIRT050202)

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    Browse Sino Biological Human cDNA Clones
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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
    cytosol2
    nucleus2
    mitochondrion1

    (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 ANKRD18A
    Interactions:

        Search GeneGlobe Interaction Network for ANKRD18A

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for ANKRD18A (Q8IVF62, 3 ENSP000003826104) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    YWHAZP631042, ENSP000003095034MINT-7899812 MINT-7900157 STRING: ENSP00000309503
    ACTA2P627362MINT-7899812 MINT-7900157
    ACTBP607092MINT-7899812 MINT-7900157
    ATP5A1P257052MINT-7899812 MINT-7900157
    About this table

    (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 ANKRD18A (AN18A)



    (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 ANKRD18A gene: 
    NM_147195.2  

    Unigene Cluster for ANKRD18A:

    Ankyrin repeat domain 18A
    Hs.644630  [show with all ESTs]
    Unigene Representative Sequence: NM_147195
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000602295 ENST00000399703(uc004abf.1 uc004abg.4 uc010mme.3)
    ENST00000475234 ENST00000313339(uc004abb.1 uc010mmc.1 uc010mmd.1)
    ENST00000607974
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ANKRD18A
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKRD18A
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ANKRD18A
      QuantiTect SYBR Green Assays in human, mouse, rat ANKRD18A
      QuantiFast Probe-based Assays in human, mouse, rat ANKRD18A

    Additional mRNA sequence: 

    AB095935.1 AK093059.1 AL834388.1 AY550933.1 BC056266.1 BC131497.1 BC152434.1 

    9 DOTS entries:

    DT.95314615  DT.95100841  DT.121150165  DT.97803866  DT.40129103  DT.411005  DT.100649256  DT.40198617 
    DT.97763883 

    Selected AceView cDNA sequences (see all 52):

    CR596617 BF059321 AL040461 AL834388 AA113206 AL704977 AI302398 BM743102 
    BX400001 BX955153 AI806762 AL040460 BX330761 AI674958 BX390567 BM907031 
    N45556 AI684691 CA335843 BG195024 BX104642 AK093059 AL039203 NM_147195 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD18A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
    SP1:                                                            
    SP2:                                            -               
    SP3:                                                            
    SP4:                                                            


    ECgene alternative splicing isoforms for ANKRD18A

    (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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    ANKRD18A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ANKRD18A Expression
    About this image

    ANKRD18A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKRD18A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644630
        Custom PCR Arrays for ANKRD18A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKRD18A

    (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 ANKRD18A 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
    17(a)
    1 → many
    1(24064036-24111623)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    42(a)
    many ↔ many
    GL344195.1(38786-58936)
    zebrafish
    (Danio rerio)
    Actinopterygii ANKRD76
    ankyrin repeat domain 7
    12(a)
    1 → many
    25(3581527-3655709) ENSDARG00000013015
            Species with no ortholog for ANKRD18A

    ENSEMBL Gene Tree for ANKRD18A (if available)
    TreeFam Gene Tree for ANKRD18A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKRD18A gene
    POTEF2  POTEI2  ANKRD30A2  POTEB22  ANKRD362  ANKRD72  POTEB2  ANKRD30BL2  
    ANKRD20A32  POTEH2  ANKRD30B2  LOC6442492  ENSG000002663022  ANKRD36C2  POTEJ2  POTEC2  
    ANKRD20A22  ANKRD262  POTEG2  ANKRD622  POTEM2  ANKRD20A12  CCDC144A2  POTED2  
    POTEE2  ANKRD20A42  ANKRD18B2  LOC1002889662  
    15 SIMAP similar genes for ANKRD18A using alignment to 4 protein entries:     AN18A_HUMAN (see all proteins):
    ANKRD19P    ANKRD18B    LOC644249    ANKRD30BL    ANKRD36BP1    ANKRD20A3
    ANKRD26    DKFZp781D1722    POTEG    PRED4    ANKRD20A1    ANKRD20A2
    ANKRD20A4    ANKRD20A8P    POTEA

    ANKRD18A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ANKRD18A
    PGOHUM00000236278


    (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 ANKRD18A (see all 981)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs5967921,2
    F--38570955(+) AGACAT/CCCTGT 1 -- int12Minor allele frequency- C:0.00NA 4
    rs5971921,2
    --38571000(+) CCCGAC/TCTAGA 1 -- int12Minor allele frequency- T:0.00NA 4
    rs1116501591,2
    C,F--38571010(+) AGACAC/AAGCAC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1855286141,2
    --38571086(+) CCAGAC/TAGCTA 1 -- int10--------
    rs123495681,2
    C,F--38571130(+) GGATGC/AGACAG 1 -- int1 ese31Minor allele frequency- A:0.04EU 447
    rs20150761,2
    C,F--38571163(-) TCATGC/TGCTCA 1 -- int13Minor allele frequency- T:0.02WA EU 465
    rs30450021,2
    C--38571214(+) AAAAT-/ACAACATT 1 -- cds10--------
    rs1483902751,2
    C--38571215(+) AAATA-/ACACATTA 1 -- cds10--------
    rs1899935951,2
    --38571325(+) TAATCC/TTGGGG 1 -- int10--------
    rs736462151,2
    C,F--38571330(+) TTGGGG/CAACTG 1 -- int11Minor allele frequency- C:0.50WA 2

    HapMap Linkage Disequilibrium report for ANKRD18A (38540566 - 38620657 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ANKRD18A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6539CNV Insertion18451855
    esv27275CNV Loss19812545
    nsv428211CNV Loss18775914
    dgv261e55CNV Loss17911159
    nsv893067CNV Gain21882294
    nsv8445CNV Gain+Loss18304495
    dgv2313e1CNV Complex17122850
    dgv2312e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANKRD18A
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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 ANKRD18A:    About MalaCards
    lung cancer


    ANKRD18A for disorders           About GeneDecksing


    Export disorders for ANKRD18A 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 ANKRD18A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ANKRD18A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ANKRD18A as a novel epigenetic regulation gene in lung cancer. (PubMed id 23131552)1 Liu W.B....Liu J.Y. (Biochem. Biophys. Res. Commun. 2012)
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    3. Proteomic and biochemical analysis of 14-3-3-binding proteins during C2-ceramide-induced apoptosis. (PubMed id 20618440)1 Pozuelo-Rubio M. (FEBS J. 2010)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)
    8. 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)
    9. (PubMed id )2 

    (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: 253650 HGNC: 23643 AceView: FLJ35740 Ensembl:ENSG00000180071 euGenes: HUgn253650
    ECgene: ANKRD18A H-InvDB: ANKRD18A

    (According to HUGE)
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    HUGE: KIAA2015

    (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 ANKRD18A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANKRD18A gene:
    Search GeneIP for patents involving ANKRD18A

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