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KIAA2018 Gene

protein-coding   GIFtS: 41
GCID: GC03M113367

KIAA2018

  Search for KIAA2018
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
KIAA20181 2
Basic Helix-Loop-Helix Domain-Containing Protein KIAA20182

External Ids:    HGNC: 304941   Entrez Gene: 2057172   Ensembl: ENSG000001765427   UniProtKB: Q68DE33   

Export aliases for KIAA2018 gene to outside databases

Previous GC identifers: GC03U900029 GC03M114653 GC03M114694 GC03M114693 GC03M114855 GC03M110742


(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 KIAA2018 Gene:
KIAA2018 (KIAA2018) is a protein-coding gene. GO annotations related to this gene include mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and calcium ion binding.


(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_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA2018 gene promoter:
         NF-1   NF-1/L   C/EBPbeta   HOXA3   XBP-1   AP-4   Roaz   POU2F1   HSF2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA2018

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA2018


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

Entrez Gene cytogenetic band: 3q13.2   Ensembl cytogenetic band:  3q13.2   HGNC cytogenetic band: 3q13.2

KIAA2018 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA2018 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M113367:  view genomic region     (about GC identifiers)

Start:
113,367,232 bp from pter      End:
113,415,493 bp from pter
Size:
48,262 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, 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: K2018_HUMAN, Q68DE3 (See protein sequence)
Recommended Name: Basic helix-loop-helix domain-containing protein KIAA2018  
Size: 2245 amino acids; 241681 Da
Sequence caution: Sequence=BAB14518.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=CAH18277.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q7Z3L9 Q8IVF3 Q9H8T4

Explore the universe of human proteins at neXtProt for KIAA2018: NX_Q68DE3

Explore proteomics data for KIAA2018 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn1223
  • Modification sites at PhosphoSitePlus

  • See KIAA2018 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001009899.2  
    ENSEMBL proteins: 
     ENSP00000420752   ENSP00000420721   ENSP00000320794  

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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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    2 InterPro protein domains:
     IPR011598 bHLH_dom
     IPR001382 Glyco_hydro_47

    Graphical View of Domain Structure for InterPro Entry Q68DE3

    ProtoNet protein and cluster: Q68DE3

    UniProtKB/Swiss-Prot: K2018_HUMAN, Q68DE3
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Find genes that share domains with KIAA2018           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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004571mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0046983protein dimerization activity IEA--
         
    Find genes that share ontologies with KIAA2018           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Gm608 (no phenotypes)

    Find genes that share phenotypes with KIAA2018           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA2018
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    hsa-miR-26a-2* hsa-miR-106a hsa-miR-128 hsa-miR-134 hsa-miR-3653 hsa-miR-519a hsa-miR-200b hsa-miR-4273
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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 UniProtKB/Swiss-Prot
    K2018_HUMAN, Q68DE3: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0016020membrane IEA--

    Find genes that share ontologies with KIAA2018           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 KIAA2018
    Interactions:

        Search GeneGlobe Interaction Network for KIAA2018

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

    2 Interacting proteins for KIAA2018 (Q68DE33 ENSP000003207944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFYCQ139523, ENSP000003966204I2D: score=2 STRING: ENSP00000396620
    CREB1P162203I2D: score=1 
    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 KIAA2018 (K2018)



    (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 KIAA2018 gene: 
    NM_001009899.2  

    Unigene Cluster for KIAA2018:

    KIAA2018
    Hs.632570  [show with all ESTs]
    Unigene Representative Sequence: NM_001009899
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491165 ENST00000496826 ENST00000478658 ENST00000316407(uc003eal.3 uc003eam.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KIAA2018 (see all 144):
    hsa-miR-26a-2* hsa-miR-106a hsa-miR-128 hsa-miR-134 hsa-miR-3653 hsa-miR-519a hsa-miR-200b hsa-miR-4273
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AB095938.1 BC043383.1 BX537728.1 CR749439.1 

    6 DOTS entries:

    DT.454086  DT.99968530  DT.75121030  DT.95217706  DT.92022315  DT.120882792 

    Selected AceView cDNA sequences (see all 70):

    BX456786 AF150324 AI129525 BM968129 AL598860 BU674900 BQ006722 BI324975 
    BU172123 CR590163 AA258136 AW089788 BC043383 AL599379 R77491 AI567719 
    AI418791 BG497855 AL596890 AA865631 AI651814 AI702429 BX507683 BI713134 

    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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    KIAA2018 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGCAGTGT
    KIAA2018 Expression
    About this image

    KIAA2018 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA2018 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632570
        Custom PCR Arrays for KIAA2018
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA2018

    (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 KIAA2018 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm6081 , 5 predicted gene 6081, 5 85.82(n)1
    83.79(a)1
      16 (28.51 cM)5
    2078061  NM_001029889.21  NP_001025060.11 
     441732465 
    chicken
    (Gallus gallus)
    Aves KIAA20181 KIAA2018 71.89(n)
    68.92(a)
      418320  NM_001277825.1  NP_001264754.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA20186
    KIAA2018
    58(a)
    1 ↔ 1
    GL343473.1(330955-368392)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.336422 Xenopus laevis transcribed sequences 74.31(n)    CA788718.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-196k8.26
    si:ch73-196k8.2
    31(a)
    1 ↔ 1
    24(21800046-21811241) ENSDARG00000077431


    ENSEMBL Gene Tree for KIAA2018 (if available)
    TreeFam Gene Tree for KIAA2018 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA2018 gene
    3 SIMAP similar genes for KIAA2018 using alignment to 2 protein entries:     K2018_HUMAN (see all proteins):
    USF1    USF2    MAX

    Find genes that share paralogs with KIAA2018           About GenesLikeMe



    (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 KIAA2018 (see all 1003)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1148534221,2
    C,F--113366744(+) TGTAGG/CCTAGC 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1834486711,2
    --113366881(+) CTATCA/GGGAAA 1 -- ds50010--------
    rs1472501021,2
    --113367131(+) TGTTAC/TAGCAA 1 -- ds50010--------
    rs1396722121,2
    --113367175(+) GCAAGA/CCAAGC 1 -- ds50010--------
    rs2000717971,2
    C--113367176(-) GGCTTG/TTCTTG 1 -- ds50010--------
    rs763265181,2
    C,F--113367213(+) ATGCAA/GTGATC 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs761578231,2
    C,F--113367340(+) AAATTT/CCCAAA 1 -- ut311Minor allele frequency- C:0.03EA 120
    rs1886682431,2
    --113367448(+) TAGGAA/CAATCC 1 -- ut310--------
    rs1918895871,2
    --113367458(+) CTGATA/CATATT 1 -- ut310--------
    rs1447587281,2
    C--113367676(+) AATTTC/GTGAAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KIAA2018 (113367232 - 113415493 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KIAA2018:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv819838CNV Loss19587683

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA2018
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA2018

    (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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      --

    (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 KIAA2018 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KIAA2018)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (Nat. Genet. 2013)
    2. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (PubMed id 22504420)1 Estrada K....Rivadeneira F. (Nat. Genet. 2012)
    3. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (Nat. Methods 2010)
    4. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    6. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (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: 205717 HGNC: 30494 AceView: KIAA2018 Ensembl:ENSG00000176542 euGenes: HUgn205717
    ECgene: KIAA2018 H-InvDB: KIAA2018

    (According to HUGE)
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    HUGE: KIAA2018

    (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 KIAA2018 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 KIAA2018 gene:
    Search GeneIP for patents involving KIAA2018

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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)
    About This Section

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