Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

KIAA0226 Gene

protein-coding   GIFtS: 54
GCID: GC03M197398

KIAA0226

Microbiology & Infectious Diseases Congress
  See related diseases
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
KIAA02261 2     Run Domain Beclin-1 Interacting And Cystein-Rich Containing Protein2
Beclin-1 Associated RUN Domain Containing Protein2 3     Run Domain Beclin-1 Interacting And Cysteine-Rich Containing Protein2
Beclin 1-Interacting Protein1     RUN Domain Protein As Beclin 1-Interacting And Cysteine-Rich Containing2
RUN Domain And Cysteine-Rich Domain Containing1     rundataxin2
RUBICON2     Baron3
baron2     Rubicon3
RUN Domain And Cysteine-Rich Domain Containing, Beclin 1-Interacting
Protein2
     

External Ids:    HGNC: 289911   Entrez Gene: 97112   Ensembl: ENSG000001450167   OMIM: 6135165   UniProtKB: Q926223   

Export aliases for KIAA0226 gene to outside databases

Previous GC identifers: GC03M194676 GC03M199276 GC03M198806 GC03M198725 GC03M198887


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

GeneCards Summary for KIAA0226 Gene: 
KIAA0226 (KIAA0226) is a protein-coding gene. Diseases associated with KIAA0226 include lactose intolerance, and cerebellar ataxia. GO annotations related to this gene include protein binding. An important paralog of this gene is PLEKHM3.

UniProtKB/Swiss-Prot: RUBIC_HUMAN, Q92622
Function: Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit
PIK3C3 activity (By similarity)




(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_000003.11  NT_029928.13  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA0226 gene promoter:
         c-Fos   MZF-1   CREB   RP58   AP-1   Lmo2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA0226

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0226


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

KIAA0226 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0226 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M197398:  view genomic region     (about GC identifiers)

Start:
197,398,259 bp from pter      End:
197,476,598 bp from pter
Size:
78,340 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: RUBIC_HUMAN, Q92622 (See protein sequence)
Recommended Name: Run domain Beclin-1 interacting and cysteine-rich containing protein  
Size: 972 amino acids; 108622 Da
Subunit: Forms a complex with BECN1, PIK3C3, PIK3R4 and UVRAG, but not with ATG14. The complex containing ATG14
up-regulates autophagy, while the one containing Rubicon down-regulates autophagy (By similarity)
Subcellular location: Late endosome. Lysosome. Early endosome. Note=Predominantly located in late
endosomes/lysosomes, only partially detected in early endososome and not at all in the Golgi apparatus
Sequence caution: Sequence=BAA13215.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q96CK5
Alternative splicing: 3 isoforms:  Q92622-1   Q92622-2   Q92622-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA0226: NX_Q92622

Explore proteomics data for KIAA0226 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92622

  • KIAA0226 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA0226 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_055502.1  NP_001139114.1  

    ENSEMBL proteins: 
     ENSP00000273582   ENSP00000405115   ENSP00000296343   ENSP00000409618   ENSP00000411894  
     ENSP00000390962   ENSP00000374316  

    Human Recombinant Protein Products for KIAA0226: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for KIAA0226
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for KIAA0226
    GenScript Custom Purified and Recombinant Proteins Services for KIAA0226
    Novus Biologicals KIAA0226 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--
    GO:0005769early endosome IDA19270696
    GO:0005770late endosome IDA19270696
    GO:0005794NOT colocalizes with Golgi apparatus IDA19270696

    KIAA0226 for ontologies           About GeneDecksing



    KIAA0226 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for KIAA0226  (rubicon)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for KIAA0226
    GenScript Custom Superior Antibodies Services for KIAA0226
    Novus Biologicals KIAA0226 Antibody
    Abcam antibodies for KIAA0226
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for KIAA0226
    LSBio Antibodies in human, mouse, rat for KIAA0226 

    Assay Products for KIAA0226: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KIAA0226
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KIAA0226
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR025258 DUF4206
     IPR004012 Run

    Graphical View of Domain Structure for InterPro Entry Q92622

    ProtoNet protein and cluster: Q92622

    UniProtKB/Swiss-Prot: RUBIC_HUMAN, Q92622
    Similarity: Contains 1 RUN domain


    KIAA0226 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:

         UniProtKB/Swiss-Prot Summary: RUBIC_HUMAN, Q92622
    Function: Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit
    PIK3C3 activity (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19270696
         
    KIAA0226 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for KIAA0226:
     Decreased viability  Increased G1 DNA content  Increased gamma-H2AX phosphory  Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIAA0226 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KIAA0226

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KIAA0226 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KIAA0226 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIAA0226
    8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA0226 (see all 79):
    hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-15a hsa-miR-519a hsa-miR-3921 hsa-miR-4267 hsa-miR-629*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KIAA0226
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIAA0226

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KIAA0226
    Sirion Biotech Customized adenovirus for overexpression of KIAA0226

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for KIAA0226 (see all 11)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): KIAA0226 (NM_014687)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA0226
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0226
    Sirion Biotech Customized lentivirus for stable overexpression of KIAA0226 
                         Customized lentivirus expression plasmids for stable overexpression of KIAA0226 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KIAA0226
    Search LifeMap BioReagents cell lines for KIAA0226
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0226


    (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

    SuperPaths for KIAA0226 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Apoptosis and Autophagy
    Apoptosis and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KIAA0226
        Apoptosis and Autophagy



    KIAA0226 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA0226

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

    5/6 Interacting proteins for KIAA0226 (Q926223 ENSP000002963434) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3C3Q8NEB93, ENSP000002620394I2D: score=3 STRING: ENSP00000262039
    BECN1Q144573, ENSP000003552314I2D: score=5 STRING: ENSP00000355231
    UVRAGQ9P2Y53, ENSP000003484554I2D: score=3 STRING: ENSP00000348455
    SMAD9O151983I2D: score=2 
    TECPR1Q7Z6L13I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0006914autophagy IEA--
    GO:0010507negative regulation of autophagy IMP19270696
    GO:0045806negative regulation of endocytosis IMP19270696

    KIAA0226 for ontologies           About GeneDecksing



    (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 KIAA0226 (RUBIC)

    Search CenterWatch for drugs/clinical trials and news about KIAA0226 / RUBIC

    (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 KIAA0226 gene (2 alternative transcripts): 
    NM_014687.1  NM_001145642.2  

    Unigene Cluster for KIAA0226:

    KIAA0226
    Hs.478868  [show with all ESTs]
    Unigene Representative Sequence: NM_001145642
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000273582(uc003fyc.2 uc003fyd.3 uc003fyf.3) ENST00000413360
    ENST00000296343 ENST00000415452(uc003fye.1) ENST00000471364 ENST00000447048
    ENST00000449205(uc003fyg.3) ENST00000467303 ENST00000474214 ENST00000472149
    ENST00000389665
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIAA0226
    8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA0226 (see all 79):
    hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-15a hsa-miR-519a hsa-miR-3921 hsa-miR-4267 hsa-miR-629*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KIAA0226
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIAA0226
    Clone
    Products:
         
    OriGene clones in human, mouse for KIAA0226 (see all 11)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): KIAA0226 (NM_014687)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA0226
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0226
    Sirion Biotech Customized lentivirus for stable overexpression of KIAA0226 
                         Customized lentivirus expression plasmids for stable overexpression of KIAA0226 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KIAA0226
    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA0226
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KIAA0226
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA0226
      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA0226

    Additional mRNA sequence: 

    AK295625.1 BC014173.2 BC033615.1 BX647598.1 D86979.3 

    11 DOTS entries:

    DT.95372149  DT.213532  DT.100009050  DT.120895054  DT.99998410  DT.75193189  DT.75147510  DT.120895026 
    DT.75169295  DT.97825368  DT.91689741 

    24/139 AceView cDNA sequences (see all 139):

    BU689732 CB241734 AW207364 BM719551 AI819969 AI885473 CB528410 CF121460 
    AI657049 BC014173 BC033615 CB266480 CB852284 AA320424 CR601728 AI676054 
    D86979 W94774 AW016481 AI201689 CF136429 AI086822 BU166581 CB123251 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0226 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19
    SP1:                                                                                                                                                      
    SP2:                                                        -                                                                                             
    SP3:                                                                                                              -                                       
    SP4:                                                                                                              -                                       
    SP5:              -                                                                                                                                       


    ECgene alternative splicing isoforms for KIAA0226

    (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

    KIAA0226 expression in normal human tissues (normalized intensities)      KIAA0226 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIAA0226 Expression
    About this image


    KIAA0226 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             Substantia Nigra   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             lymph node   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

    See KIAA0226 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA0226

    SOURCE GeneReport for Unigene cluster: Hs.478868
        SABiosciences Custom PCR Arrays for KIAA0226
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for KIAA0226
    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA0226
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KIAA0226
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA0226
    Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA0226
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0226

    (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 KIAA0226 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1700021K19Rik1 , 5 RIKEN cDNA 1700021K19 gene1, 5 87.38(n)1
    88.49(a)1
      16 (23.38 cM)5
    1005026981  NM_172615.41  NP_766203.11 
     328217075 
    chicken
    (Gallus gallus)
    Aves KIAA02261 KIAA0226 74.42(n)
    74.83(a)
      424920  XM_422730.3  XP_422730.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA02266
    KIAA0226
    68(a)
    1 ↔ 1
    GL343433.1(228837-286434)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch1073-167a23.11 si:ch1073-167a23.1 61.86(n)
    60.48(a)
      100000896  XM_002666369.2  XP_002666415.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG127723   -- 39(a)
    (best of 2)
      8A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y56A3A.166
    Protein Y56A3A.16, isoform a
    16(a)
    1 → many
    III(11911111-11914315)


    ENSEMBL Gene Tree for KIAA0226 (if available)
    TreeFam Gene Tree for KIAA0226 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA0226 gene
    PLEKHM32  DEF82  KIAA0226L2  PLEKHM12  
    2 SIMAP similar genes for KIAA0226 using alignment to 6 protein entries:     RUBIC_HUMAN (see all proteins):
    DKFZp313O2236    KIAA0226L

    KIAA0226 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

    10/1612 SNPs in KIAA0226 are shown (see all 1612)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1867144801,2
    --197397772(+) AGGGAA/GAAGAC 1 -- ds50010--------
    rs1383599651,2
    C--197397792(+) GGACAC/TGCTCA 1 -- ds50010--------
    rs1162946811,2
    C,F--197397803(+) CTACTG/ACAGAG 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1149767391,2
    F--197397838(+) GTAGAG/AGTGGT 2 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1462733211,2
    --197397918(+) GTCTCA/GCTCTT 2 -- ds50010--------
    rs1906617701,2
    --197397937(+) ATGGAC/GTGCAA 2 -- ds50010--------
    rs1128790861,2
    C,F--197397972(+) CCCTCG/ACCTTC 2 -- ds50014Minor allele frequency- A:0.04CSA WA EA 242
    rs1808876151,2
    --197398020(+) AGCTGC/GGATTA 2 -- ds50010--------
    rs1387263781,2
    --197398032(+) AAGCAC/TATGCC 2 -- ds50010--------
    rs1495358791,2
    C--197398037(+) CATGCC/TACCAT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for KIAA0226 (197398259 - 197476598 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for KIAA0226 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663109CNV Deletion23128226
    esv2726674CNV Deletion23290073
    esv2668997CNV Deletion23128226
    esv2726672CNV Deletion23290073
    nsv236569CNV Insertion16902084
    esv1514481CNV Insertion17803354
    nsv508983CNV Insertion20534489
    esv995678CNV Insertion20482838
    nsv829831CNV Loss17160897
    esv25937CNV Loss19812545


    Human Gene Mutation Database (HGMD): KIAA0226
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA0226
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0226

    (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
    OMIM gene information: 613516    OMIM disorders: --

    3 diseases for KIAA0226:    About MalaCards
    lactose intolerance    cerebellar ataxia    ataxia

    1 disease from the University of Copenhagen DISEASES database for KIAA0226:
    Lactose intolerance

    KIAA0226 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA0226
    Human Genome Epidemiology (HuGE) Navigator: KIAA0226 (2 documents)

    Export disorders for KIAA0226 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 KIAA0226 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with KIAA0226)
        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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Rundataxin, a novel protein with RUN and diacylglycer ol binding domains, is mutant in a new recessive ataxia. (PubMed id 20826435)1, 3 Assoum M....Koenig M. (2010)
    4. Two Beclin 1-binding proteins, Atg14L and Rubicon, reciprocally regulate autophagy at different stages. (PubMed id 19270696)1, 2 Matsunaga K....Yoshimori T. (2009)
    5. Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1-phosphatidylinositol-3-kinase complex. (PubMed id 19270693)1, 3 Zhong Y....Yue Z. (2009)
    6. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
    7. The Salih Ataxia Mutation Impairs Rubicon Endosomal Lo calization. (PubMed id 23728897)1 Assoum M....Koenig M. (2013)
    8. The autophagy regulator Rubicon is a feedback inhibito r of CARD9-mediated host innate immunity. (PubMed id 22423967)1 Yang C.S....Jung J.U. (2012)
    9. Recent advances in the genetics of cerebellar ataxias. (PubMed id 22527681)1 Sailer A. and Houlden H. (2012)
    10. Autophagy protein Rubicon mediates phagocytic NADPH ox idase activation in response to microbial infection or TLR stimulation. (PubMed id 22423966)1 Yang C.S....Jung J.U. (2012)

    (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: 9711 HGNC: 28991 AceView: KIAA0226 Ensembl:ENSG00000145016 euGenes: HUgn9711
    ECgene: KIAA0226 H-InvDB: KIAA0226

    (According to HUGE)
    About This Section
    HUGE: KIAA0226

    (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 KIAA0226 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 KIAA0226 gene:
    Search GeneIP for patents involving KIAA0226

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for KIAA0226  
     OriGene qPCR primer pairs and template standards for KIAA0226   OriGene Protein Over-expression Lysate for KIAA0226  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for KIAA0226  
     OriGene qSTAR qPCR primer pairs in human, mouse for KIAA0226   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for KIAA0226   OriGene Custom Protein Services for KIAA0226  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KIAA0226
     QIAGEN SeqTarget long-range PCR primers for resequencing KIAA0226
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0226
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIAA0226
     Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA0226
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA0226
     GenScript Custom Purified and Recombinant Proteins Services for KIAA0226 GenScript cDNA clones with any tag delivered in your preferred vector for KIAA0226
     GenScript Custom Assay Services for KIAA0226 GenScript Custom Superior Antibodies Services for KIAA0226
     GenScript Custom overexpressing Cell Line Services for KIAA0226 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for KIAA0226  (rubicon)

     Regulatory tfbs in KIAA0226 promoter
     Search Chromatin IP Primers for KIAA0226
     RT2 qPCR Primer Assay in human, mouse / rat KIAA0226
     Search GNC Networks for KIAA0226
     SABiosciences Custom PCR Arrays for KIAA0226
     Search Tocris compounds for KIAA0226 (RUBIC)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     KIAA0226 antibodies
     KIAA0226 proteins
     Antibodies for KIAA0226
     See all of Abcam's Antibodies, Kits and Proteins for KIAA0226
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for KIAA0226
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0226
     Browse SwitchGear 3'UTR luciferase reporter plasmids for KIAA0226
     Browse SwitchGear Promoter luciferase reporter plasmids for KIAA0226
     ThermoFisher Antibodies for KIAA0226
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0226
     inGenious Targeting Laboratory - Custom generated mouse model solutions for KIAA0226
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KIAA0226
    Customized:
     lentivirus for stable overexpression of KIAA0226
     lentivirus expression plasmids for stable overexpression of KIAA0226
     adenovirus for overexpression of KIAA0226
     LSBio Antibodies in human, mouse, rat for KIAA0226
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      KIAA0226 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4