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KIAA0232 Gene

protein-coding   GIFtS: 46
GCID: GC04P006783

KIAA0232

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(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
KIAA02321 2
Uncharacterized Protein KIAA02322

External Ids:    HGNC: 289921   Entrez Gene: 97782   Ensembl: ENSG000001708717   UniProtKB: Q926283   

Export aliases for KIAA0232 gene to outside databases

Previous GC identifers: GC04P006690 GC04P006906 GC04P006849 GC04P006902 GC04P006715


(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 KIAA0232 Gene:
KIAA0232 (KIAA0232) is a protein-coding gene.


(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_000004.11  NT_006051.19  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA0232 gene promoter:
         Max1   ER-alpha   STAT5B   STAT1   Pax-6   STAT1alpha   Gfi-1   MZF-1   Pax-3   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA0232

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA0232


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

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.1

KIAA0232 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0232 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P006783:  view genomic region     (about GC identifiers)

Start:
6,783,102 bp from pter      End:
6,885,899 bp from pter
Size:
102,798 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: K0232_HUMAN, Q92628 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0232  
Size: 1395 amino acids; 154789 Da
Sequence caution: Sequence=BAA13221.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A7E2D2

Explore the universe of human proteins at neXtProt for KIAA0232: NX_Q92628

Explore proteomics data for KIAA0232 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA0232 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001094060.1  NP_055558.2  

    ENSEMBL proteins: 
     ENSP00000426815   ENSP00000303928   ENSP00000413739  

    KIAA0232 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search antibodies-online for proteins for KIAA0232 

     
    Search antibodies-online for peptides for KIAA0232

    KIAA0232 Antibody Products:

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    Search antibodies-online for antibodies for KIAA0232 

    KIAA0232 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for KIAA0232 
    antibodies-online kits for KIAA0232 (4 products) 


    (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:
     IPR027871 DUF4603

    Graphical View of Domain Structure for InterPro Entry Q92628

    ProtoNet protein and cluster: Q92628


    Find genes that share domains with KIAA0232           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with KIAA0232           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for KIAA0232:
     Increased Hepatitis C virus re 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KIAA0232

    miRNA
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    miRTarBase miRNAs that target KIAA0232:
    hsa-mir-106b-3p (MIRT038590), hsa-mir-375 (MIRT019736), hsa-mir-26b-5p (MIRT029109), hsa-mir-125a-5p (MIRT045711)

    Block miRNA regulation of human, mouse, rat KIAA0232 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIAA0232 (see all 77):
    hsa-miR-607 hsa-miR-106a hsa-miR-485-3p hsa-miR-128 hsa-miR-138-2* hsa-miR-371-5p hsa-miR-3921 hsa-miR-3916
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KIAA0232

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): KIAA0232 (NM_014743)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0232


    (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
    cytoskeleton1

    (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 KIAA0232
    Interactions:

        Search GeneGlobe Interaction Network for KIAA0232

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for KIAA0232 (Q926282, 3 ENSP000003039284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC35F6Q8N3572, 3MINT-65063 I2D: score=4 
    YWHAEP622583, ENSP000002643354I2D: score=2 STRING: ENSP00000264335
    YWHAZP631043, ENSP000003095034I2D: score=2 STRING: ENSP00000309503
    WNK1Q9H4A33, ENSP000003130594I2D: score=1 STRING: ENSP00000313059
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    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 KIAA0232 (K0232)



    (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 KIAA0232 gene (2 alternative transcripts): 
    NM_001100590.1  NM_014743.2  

    Unigene Cluster for KIAA0232:

    KIAA0232
    Hs.79276  [show with all ESTs]
    Unigene Representative Sequence: NM_014743
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503278 ENST00000508423 ENST00000307659(uc003gjr.4) ENST00000503069
    ENST00000425103(uc003gjq.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KIAA0232 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIAA0232 (see all 77):
    hsa-miR-607 hsa-miR-106a hsa-miR-485-3p hsa-miR-128 hsa-miR-138-2* hsa-miR-371-5p hsa-miR-3921 hsa-miR-3916
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KIAA0232
    Predesigned siRNA for gene silencing in human, mouse, rat KIAA0232
    Clone
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    OriGene clones in human, mouse for KIAA0232 (see all 11)
    OriGene ORF clones in mouse, rat for KIAA0232
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): KIAA0232 (NM_014743)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA0232
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0232
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA0232
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIAA0232
      QuantiTect SYBR Green Assays in human, mouse, rat KIAA0232
      QuantiFast Probe-based Assays in human, mouse, rat KIAA0232

    Additional mRNA sequence: 

    AF143884.1 AK124715.1 BC150286.1 CR457160.1 D86985.3 EF553521.1 

    8 DOTS entries:

    DT.118111  DT.91701977  DT.100700972  DT.100785040  DT.121260491  DT.92433565  DT.100012762  DT.121260484 

    Selected AceView cDNA sequences (see all 230):

    T33116 AA037276 BU178853 BF000455 BF475386 AA235126 AI628593 CR613368 
    BE501060 BM678073 AA256625 AI420199 CA307271 CK300683 BM683617 BM725535 
    AI184742 D86985 BQ187368 AU119640 AA702636 AW237460 BM128586 BQ000832 

    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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    KIAA0232 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAATGGAA
    KIAA0232 Expression
    About this image


    KIAA0232 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    KIAA0232 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA0232 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.79276
        Custom PCR Arrays for KIAA0232
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    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA0232
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0232

    (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 KIAA0232 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D5Ertd579e1 , 5 DNA segment, Chr 5, ERATO Doi 579, expressed1, 5 88.53(n)1
    88.86(a)1
      5 (19.18 cM)5
    3206611  NM_001081232.31  NP_001074701.31 
     365847885 
    chicken
    (Gallus gallus)
    Aves KIAA02321 KIAA0232 84.51(n)
    86.51(a)
      422860  XM_004936181.1  XP_004936238.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA02326
    KIAA0232
    74(a)
    1 ↔ 1
    4(79398811-79457388)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.309502 Xenopus laevis transcribed sequences 80.57(n)    48033214 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc44c062 Transcribed sequence with weak similarity to protein more 70.1(n)    57050020 


    ENSEMBL Gene Tree for KIAA0232 (if available)
    TreeFam Gene Tree for KIAA0232 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 KIAA0232 (see all 2209)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1921860641,2
    --6713389(+) GGTCTG/TGAGTG 1 -- int10--------
    rs1505762811,2
    --6713419(+) GGAAAC/GAAACA 1 -- int10--------
    rs3726252661,2
    C--6713520(+) CCAAAA/CGGGCA 1 -- int10--------
    rs1396198551,2
    C--6782464(+) CCACCA/GGCTCC 2 -- us2k10--------
    rs1844044851,2
    --6782582(+) AAGTAA/GTAAAA 2 -- us2k10--------
    rs1896977031,2
    --6782585(+) TAATAA/TAAAAA 2 -- us2k10--------
    rs2005971401,2
    --6782603(+) ATAAA-/CTCTGTG 2 -- us2k10--------
    rs1125196051,2
    C--6782604(+) TAAAC-/TCTGTG
            
    TGTGT
    1 -- us2k11Minor allele frequency- TCTGTG:0.00CSA 2
    rs1446028261,2
    C--6782604(+) TAAAC-/TCTG  
            
    TGTGT
    1 -- us2k10--------
    rs44267761,2
    C,H--6782605(+) AAACtC/Gtgtgt 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA0232 (6783102 - 6885899 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIAA0232 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2727011CNV Deletion23290073
    esv2727009CNV Deletion23290073
    dgv859e201CNV Deletion23290073
    esv2727010CNV Deletion23290073
    esv1704198CNV Insertion17803354
    esv1098216CNV Insertion17803354
    esv23947CNV Loss19812545
    nsv878529CNV Loss21882294
    nsv4216CNV Loss18451855
    esv23110CNV Gain19812545

    Human Gene Mutation Database (HGMD): KIAA0232
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA0232
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0232

    (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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    Find genes that share disorders with KIAA0232           About GenesLikeMe

    Genetic Association Database (GAD): KIAA0232

    Export disorders for KIAA0232 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 KIAA0232 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with KIAA0232)
        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. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (Nature 2011)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    5. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. (PubMed id 24026423)1 Shameer K....Kullo I.J. (Hum. Genet. 2014)
    6. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    7. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (Nat. Methods 2010)
    8. 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)
    9. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    10. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)

    (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: 9778 HGNC: 28992 AceView: KIAA0232 Ensembl:ENSG00000170871 euGenes: HUgn9778
    ECgene: KIAA0232 H-InvDB: KIAA0232

    (According to HUGE)
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    HUGE: KIAA0232

    (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 KIAA0232 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 KIAA0232 gene:
    Search GeneIP for patents involving KIAA0232

    GeneCards and IP:
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    (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, eBioscience, antibodies-online, 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 genOway)
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