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KIAA0247 Gene

protein-coding   GIFtS: 45
GCID: GC14P070078

KIAA0247

  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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KIAA0247 Gene:
KIAA0247 (KIAA0247) is a protein-coding gene. Diseases associated with KIAA0247 include colorectal cancer. An important paralog of this gene is SUSD4.


(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_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   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 Chromatin IP Primers for KIAA0247

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: K0247_HUMAN, Q92537 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0247 precursor  
Size: 303 amino acids; 32090 Da
Sequence caution: Sequence=BAA13378.2; Type=Erroneous initiation;

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

Explore proteomics data for KIAA0247 at MOPED


See KIAA0247 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_055549.1  
ENSEMBL proteins: 
 ENSP00000344424  

KIAA0247 Human Recombinant Protein Products:

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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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1 InterPro protein domain:
 IPR000436 Sushi_SCR_CCP

Graphical View of Domain Structure for InterPro Entry Q92537

ProtoNet protein and cluster: Q92537

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

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


KIAA0247 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:0003674molecular_function ND--
     
KIAA0247 for ontologies           About GeneDecksing


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

     1 MGI phenotypic allele for 4933426M11Rik (no phenotypes)

KIAA0247 for phenotypes           About GeneDecksing

Animal Models:
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miRNA
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miRTarBase miRNAs that target KIAA0247:
hsa-mir-7-5p (MIRT025696)

Block miRNA regulation of human, mouse, rat KIAA0247 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate KIAA0247 (see all 105):
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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Predesigned siRNA for gene silencing in human, mouse, rat KIAA0247

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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
K0247_HUMAN, Q92537: Membrane; Single-pass type I membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
extracellular2
cytoskeleton1
nucleus1

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

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

KIAA0247 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 KIAA0247
Interactions:

    Search GeneGlobe Interaction Network 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
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Gene Ontology (GO): 1 biological process term:    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, 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 KIAA0247 (K0247)



(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, Primers from OriGene, and/or QIAGEN )
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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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Selected qRT-PCR Assays for microRNAs that regulate KIAA0247 (see all 105):
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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Predesigned siRNA for gene silencing in human, mouse, rat KIAA0247
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Primer
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OriGene qPCR primer pairs and template standards for KIAA0247
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  QuantiTect SYBR Green Assays in human, mouse, rat KIAA0247
  QuantiFast Probe-based Assays in human, mouse, rat KIAA0247

Additional mRNA 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 

Selected AceView cDNA sequences (see all 247):

CA941495 AI141032 CA428390 BM128004 NM_014734 CK819126 CA941772 BQ023197 
AI307363 BE220293 N91376 AA988431 BM129026 CB216530 D87434 BM272101 
AW168042 BC064697 BX951538 W02960 AI572337 BQ420280 CK819431 CA314035 

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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KIAA0247 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAGGCTTCAC
KIAA0247 Expression
About this image


KIAA0247 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Blood (Hematopoietic System)
         Granulocytes Peripheral Blood
KIAA0247 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KIAA0247 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.440025
    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)
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This gene was present in the common ancestor of chordates.

Orthologs for KIAA0247 gene from Selected species (see all 12)    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_421180.4  XP_421180.1 
lizard
(Anolis carolinensis)
Reptilia KIAA02476
KIAA0247
72(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)
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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, 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 KIAA0247 (see all 2090)    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,F--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
C--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
     Database of Genomic Variants (DGV) 3 variations for KIAA0247:    About this table    
Variant IDTypeSubtypePubMed ID
nsv1336CNV Insertion18451855
nsv826971CNV Loss20364138
nsv456336CNV Gain19166990

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KIAA0247
DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0247

(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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1 disease for KIAA0247:    
About MalaCards
colorectal cancer


KIAA0247 for disorders           About GeneDecksing


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)
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PubMed articles for KIAA0247 gene integrated from 10 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. (DNA Res. 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. (Genome Res. 2004)
  3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  4. A predicted protein, KIAA0247, is a cell cycle modulator in colorectal cancer cells under 5-FU treatment. (PubMed id 21619678)1 Huang C.J....Chang C.C. (J Transl Med 2011)
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
  6. Characterization of SVEP1, KIAA, and SRPX2 in an in vitro cell culture model of endotoxemia. (PubMed id 20236627)1 Schwanzer-Pfeiffer D....Falkenhagen D. (Cell. Immunol. 2010)
  7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
  8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  9. 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: 9766 HGNC: 19956 AceView: KIAA0247 Ensembl:ENSG00000100647 euGenes: HUgn9766
ECgene: KIAA0247 H-InvDB: KIAA0247

(According to HUGE)
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HUGE: KIAA0247

(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 KIAA0247 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 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, 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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