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

KIAA0247 Gene

protein-coding   GIFtS: 45
GCID: GC14P070078

KIAA0247

 Explore 1 disease affiliated with
KIAA0247 via our new
 Human Malady Compendium 
Biological research products
for KIAA0247
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
KIAA02471 2
Uncharacterized Protein KIAA02472

External Ids:    HGNC: 199561   Entrez Gene: 97662   Ensembl: ENSG000001006477   UniProtKB: Q925373   

Export aliases for KIAA0247 gene to outside databases

Previous GC identifers: GC14P067583 GC14P063874 GC14P068068 GC14P069148 GC14P050246


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA0247 gene promoter:
         Tal-1   ATF-2   E47   GATA-1   PPAR-gamma1   Ik-2   TGIF   ATF   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA0247

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0247


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

Entrez Gene cytogenetic band: 14q24.1   Ensembl cytogenetic band:  14q24.1   HGNC cytogenetic band: 14q24.1

KIAA0247 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0247 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P070078:  view genomic region     (about GC identifiers)

Start:
70,078,310 bp from pter      End:
70,181,861 bp from pter
Size:
103,552 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: K0247_HUMAN, Q92537 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0247 precursor  
Size: 303 amino acids; 32090 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Sequence caution: Sequence=BAA13378.2; Type=Erroneous initiation;

Explore the universe of human proteins at neXtProt for KIAA0247: NX_Q92537

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92537

  • KIAA0247 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055549.1  
    ENSEMBL proteins: 
     ENSP00000344424  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0016021integral to membrane IEA--


    KIAA0247 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KIAA0247 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000436 Sushi_SCR_CCP

    Graphical View of Domain Structure for InterPro Entry Q92537

    ProtoNet protein and cluster: Q92537

    1 Blocks protein family: IPB000436 Sushi domain/SCR domain/CCP module

    UniProtKB/Swiss-Prot: K0247_HUMAN, Q92537
    Similarity: Contains 1 Sushi (CCP/SCR) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-140-5p hsa-miR-607 hsa-miR-1321 hsa-miR-106a hsa-miR-15a hsa-miR-938 hsa-miR-632 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidKIAA0247 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    KIAA0247 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for KIAA0247:
     Decreased TP53 protein express  Decreased Wnt reporter activit 

    Animal Models:
         1 MGI phenotypic allele for 4933426M11Rik (no phenotypes)

    KIAA0247 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA0247

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

    1 Interacting protein for KIAA0247 (ENSP000003444244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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


    KIAA0247 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 KIAA0247
    Search CenterWatch for drugs/clinical trials and news about KIAA0247 / K0247 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA0247 gene: 
    NM_014734.3  

    Unigene Cluster for KIAA0247:

    KIAA0247
    Hs.440025  [show with all ESTs]
    Unigene Representative Sequence: BC064697
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342745(uc001xlk.3 uc010aqz.3) ENST00000553497 ENST00000556993


    miRNA
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    hsa-miR-140-5p hsa-miR-607 hsa-miR-1321 hsa-miR-106a hsa-miR-15a hsa-miR-938 hsa-miR-632 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidKIAA0247 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK130809.1 AK309302.1 AK311470.1 BC064697.1 D87434.1 

    6 DOTS entries:

    DT.417644  DT.100035637  DT.104430  DT.100738747  DT.40295489  DT.92431625 

    24/247 AceView cDNA sequences (see all 247):

    CA314035 BQ448605 BQ185909 D80119 BM272101 W02960 BM128004 CK819126 
    CB216530 AI141032 D87434 AA625832 AI572337 AW168042 BQ023197 AI307363 
    BQ420280 BM547798 AW504882 CK819431 AI391748 AI628675 BC064697 NM_014734 

    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™, 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

    KIAA0247 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGGCTTCAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    KIAA0247 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KIAA0247 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA0247

    SOURCE GeneReport for Unigene cluster: Hs.440025
        SABiosciences Custom PCR Arrays for KIAA0247
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0247

    (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 chordates.

    Orthologs for KIAA0247 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4933426M11Rik1 , 5 RIKEN cDNA 4933426M11 gene1, 5 87.97(n)1
    89.4(a)1
      12 (37.05 cM)5
    2176841  NM_178682.41  NP_848797.11 
     807905325 
    chicken
    (Gallus gallus)
    Aves KIAA02471 KIAA0247 73.78(n)
    74.67(a)
      423259  XM_421180.3  XP_421180.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA02476
    --
    73(a)
    1 ↔ 1
    GL343318.1(655538-664390)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044987.12   -- 79.62(n)    BC044987.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.113642 Transcribed sequence 84(n)    BG308774.1 


    ENSEMBL Gene Tree for KIAA0247 (if available)
    TreeFam Gene Tree for KIAA0247 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA0247 gene
    SUSD42  
    1 SIMAP similar gene for KIAA0247 using alignment to 1 protein entry:     K0247_HUMAN:
    SUSD4

    KIAA0247 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1726 NCBI SNPs in KIAA0247 are shown (see all 1726    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs616069581,2
    C,--70076357(+) TCTCCC/TGCCTC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs101500321,2
    C,F,A,H,--70076391(+) CAGGCC/ATGTGC 1 -- us2k111Minor allele frequency- A:0.10NA WA CSA 20
    rs1850784321,2
    --70076517(+) GGGATC/TACAGG 1 -- us2k10--------
    rs1475106581,2
    --70076730(+) CTTTC-/CTTT  
            
    CTTTC
    1 -- us2k10--------
    rs1883240071,2
    --70076730(+) CTTTCA/CTTTCT 1 -- us2k10--------
    rs782330661,2
    C--70077121(+) TGGGGA/CGGAGC 1 -- us2k10--------
    rs1467914631,2
    --70077130(+) GCATCC/TTGTTT 1 -- us2k10--------
    rs1405851621,2
    --70077147(+) TTCAAA/GCTACT 1 -- us2k10--------
    rs1442929891,2
    --70077186(+) GTGCTA/TTTCCC 1 -- us2k10--------
    rs1811500261,2
    --70077197(+) GAAAGC/TCTACT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA0247 (70078310 - 70181861 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KIAA0247: --

    SABiosciences Cancer Mutation 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.)
    About This Section

    KIAA0247 for disorders           About GeneDecksing

    1 disease for KIAA0247:    About MalaCards
    colorectal cancer


    Export disorders for KIAA0247 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 KIAA0247 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KIAA0247)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2, 3 Nagase T....Nomura N. (1996)
    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. A predicted protein, KIAA0247, is a cell cycle modula tor in colorectal cancer cells under 5-FU treatment. (PubMed id 21619678)1 Huang C.J....Chang C.C. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. Characterization of SVEP1, KIAA, and SRPX2 in an in v itro cell culture model of endotoxemia. (PubMed id 20236627)1 Schwanzer-Pfeiffer D....Falkenhagen D. (2010)
    6. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    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. (2002)

    (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: 9766 HGNC: 19956 AceView: KIAA0247 Ensembl:ENSG00000100647 euGenes: HUgn9766
    ECgene: KIAA0247 H-InvDB: KIAA0247

    (According to HUGE)
    About This Section
    HUGE: KIAA0247

    (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 KIAA0247 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 KIAA0247 gene:
    Search GeneIP for patents involving KIAA0247

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    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 


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