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

KIAA0930 Gene

protein-coding   GIFtS: 46
GCID: GC22M045589

KIAA0930

(Previous name: chromosome 22 open reading frame 9)
(Previous symbol: C22orf9)
  Search for KIAA0930
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
KIAA09301 2
C22orf91 2 3
Chromosome 22 Open Reading Frame 91
Uncharacterized Protein KIAA09302

External Ids:    HGNC: 13141   Entrez Gene: 233132   Ensembl: ENSG000001003647   UniProtKB: Q6ICG63   

Export aliases for KIAA0930 gene to outside databases

Previous GC identifers: GC22M042225 GC22M043866 GC22M043868


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

GeneCards Summary for KIAA0930 Gene: 
KIAA0930 (KIAA0930) is a protein-coding gene.

Gene Wiki entry for KIAA0930 (C22orf9) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KIAA0930
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA0930

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0930


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

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13.31

KIAA0930 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0930 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M045589:  view genomic region     (about GC identifiers)

Start:
45,588,114 bp from pter      End:
45,636,650 bp from pter
Size:
48,537 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: K0930_HUMAN, Q6ICG6 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0930  
Size: 404 amino acids; 45794 Da
Secondary accessions: B0QY17 B0QY19 B3KT48 Q6ZVE5 Q7Z6K9 Q8IZ76 Q9Y2E2
Alternative splicing: 3 isoforms:  Q6ICG6-1   Q6ICG6-2   Q6ICG6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA0930: NX_Q6ICG6

Explore proteomics data for KIAA0930 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ICG6

  • KIAA0930 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA0930 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001009880.1  NP_056079.1  

    ENSEMBL proteins: 
     ENSP00000336720   ENSP00000399125   ENSP00000251993   ENSP00000375485   ENSP00000402514  
     ENSP00000403030   ENSP00000392752   ENSP00000395994   ENSP00000389482  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019141 DUF2045

    Graphical View of Domain Structure for InterPro Entry Q6ICG6

    ProtoNet protein and cluster: Q6ICG6


    KIAA0930 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:
         Genatlas biochemistry entry for KIAA0930:
    related to C elegans cos C16E9

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA0930

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/7 Interacting proteins for KIAA0930 (Q6ICG62, 3 ENSP000002519934) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAGP619812, 3, ENSP000003063304MINT-50900 MINT-50682 I2D: score=4 STRING: ENSP00000306330
    YWHABP319462, 3, ENSP000003001614MINT-50993 I2D: score=4 STRING: ENSP00000300161
    SFNP319472, 3MINT-3976517 I2D: score=1 
    USP11P517843, ENSP000002183484I2D: score=2 STRING: ENSP00000218348
    YWHAZP631043, ENSP000003095034I2D: score=3 STRING: ENSP00000309503
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 KIAA0930 (K0930)

    Search CenterWatch for drugs/clinical trials and news about KIAA0930 / K0930

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA0930 gene (2 alternative transcripts): 
    NM_001009880.1  NM_015264.1  

    Unigene Cluster for KIAA0930:

    KIAA0930
    Hs.592207  [show with all ESTs]
    Unigene Representative Sequence: NM_015264
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336156(uc010gzw.1 uc003bfv.1 uc003bfw.1 uc010gzx.2 uc003bfx.1)
    ENST00000423262 ENST00000251993 ENST00000391627 ENST00000488038 ENST00000483374
    ENST00000498418 ENST00000474515 ENST00000493003 ENST00000440039 ENST00000414854
    ENST00000424508 ENST00000486640 ENST00000417906 ENST00000496226 ENST00000492273
    ENST00000443310
    miRNA
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    hsa-let-7d hsa-miR-4328 hsa-miR-1224-3p hsa-miR-4315 hsa-let-7g hsa-miR-9 hsa-miR-629* hsa-miR-654-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AB023147.1 AK025608.1 AK094359.1 AK094937.1 AK124648.1 AK297058.1 AK309015.1 AK315883.1 
    AY007105.1 BC016882.1 BC038414.1 BC053595.1 CR456402.1 DQ457059.1 

    19 DOTS entries:

    DT.215051  DT.92436606  DT.95322913  DT.97794418  DT.100790105  DT.313359  DT.313358  DT.97847001 
    DT.95203221  DT.120638263  DT.100730688  DT.102829442  DT.95297964  DT.100790104  DT.120638257  DT.40200470 
    DT.40210546  DT.95203222  DT.100790103 

    24/276 AceView cDNA sequences (see all 276):

    BQ675334 AW963988 CB851657 AK094937 BU729650 AL138419 BQ690687 BF900843 
    BM915770 CF137188 BQ674890 AI129781 BU845584 BQ070790 CF131263 BM811337 
    BU191790 CA306600 BQ069717 BQ932746 AI868746 BC016882 AK124648 BM666701 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0930 (see all 14)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b ^
    SP1:                                -     -     -     -                       -     -                                               -     -     -     -         
    SP2:                                                                          -     -                                               -     -     -     -         
    SP3:              -     -     -     -     -     -     -                       -     -                                               -     -     -     -         
    SP4:                                                                          -     -                                               -     -     -     -         
    SP5:        -     -     -     -     -     -     -     -     -                 -     -                                                                           

    ExUns: 18a · 18b ^ 19a · 19b · 19c
    SP1:  -                           
    SP2:  -                           
    SP3:  -                           
    SP4:  -                           
    SP5:                              


    ECgene alternative splicing isoforms for KIAA0930

    (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

    KIAA0930 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGCGTTTC
    KIAA0930 Expression
    About this image


    See KIAA0930 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA0930

    SOURCE GeneReport for Unigene cluster: Hs.592207
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    In Situ
    Assay Products:
     

     
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    (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 animals.

    Orthologs for KIAA0930 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 5031439G07Rik1 , 5 RIKEN cDNA 5031439G07 gene1, 5 89.83(n)1
    97.27(a)1
      15 (40.25 cM)5
    2237391  NM_001033273.21  NP_001028445.11 
     849439365 
    chicken
    (Gallus gallus)
    Aves KIAA09301 KIAA0930 80.41(n)
    93.09(a)
      418241  XM_416465.3  XP_416465.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA09306
    KIAA0930
    80(a)
    1 ↔ 1
    5(84459143-84511978)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC533032 hypothetical protein MGC53303 82.42(n)    BC047259.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1721391 zgc:172139 82.05(n)
    88.21(a)
      100003412  NM_001128288.1  NP_001121760.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96463   -- 52(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea C16E9.2a3   -- 37(a)   X(6971024-6973998)   --


    ENSEMBL Gene Tree for KIAA0930 (if available)
    TreeFam Gene Tree for KIAA0930 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA0930 gene
    1 SIMAP similar gene for KIAA0930 using alignment to 7 protein entries:     K0930_HUMAN (see all proteins):
    C22orf9

    KIAA0930 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) 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

    10/1396 SNPs in KIAA0930 are shown (see all 1396)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1908003641,2
    --28583830(+) ACTGGA/GGATGG 1 -- int10--------
    rs285781531,2
    C,F--28583842(+) GGATCA/GGACAG 1 -- int12Minor allele frequency- G:0.04NA 122
    rs1830509271,2
    C--28583892(+) CATCCC/TTCTTT 1 -- int10--------
    rs1443021191,2
    --28583920(+) AGCACA/CCCCTG 1 -- int10--------
    rs613002611,2
    C,F--45587633(+) ATTCTC/TCTGCC 2 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1887289311,2
    --45587717(+) TGGGGC/GTTTCA 2 -- ds50010--------
    rs1815068321,2
    --45587731(+) TATGTC/TGGCCA 2 -- ds50010--------
    rs96150581,2
    C--45587745(+) TGGTCG/TCGAAC 2 -- ds50010--------
    rs2265201,2
    C,F,A--45587746(+) GGTCTT/CGAACT 2 -- ds50015Minor allele frequency- C:0.44NA CSA 9
    rs1859971311,2
    --45587788(+) TCCCAA/CAGCAC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for KIAA0930 (45588114 - 45636650 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for KIAA0930 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724394CNV Deletion23290073
    dgv787e201CNV Deletion23290073
    esv1262903CNV Deletion17803354
    esv2724391CNV Deletion23290073
    esv2724392CNV Deletion23290073
    esv2677451CNV Deletion23128226
    esv2925CNV Deletion18987735
    esv1008540CNV Deletion20482838
    nsv834220CNV Loss17160897
    nsv915294CNV Loss21882294

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 KIAA0930 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with KIAA0930)
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    1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (1999)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    10. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23313 HGNC: 1314 AceView: C22orf9 Ensembl:ENSG00000100364 euGenes: HUgn23313
    ECgene: KIAA0930 H-InvDB: KIAA0930

    (According to HUGE)
    About This Section
    HUGE: KIAA0930

    (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 KIAA0930 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 KIAA0930 gene:
    Search GeneIP for patents involving KIAA0930

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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