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RCC2 Gene

protein-coding   GIFtS: 59
GCID: GC01M017733

Regulator Of Chromosome Condensation 2

  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)
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Aliases
Regulator Of Chromosome Condensation 21 2     Protein RCC22
Telophase Disk Protein Of 60 KDa2 3     KIAA14703
RCC1-Like Protein TD-602 3     TD603
TD-602     

External Ids:    HGNC: 302971   Entrez Gene: 559202   Ensembl: ENSG000001790517   OMIM: 6095875   UniProtKB: Q9P2583   

Export aliases for RCC2 gene to outside databases

Previous GC identifers: GC01M017479 GC01M017605 GC01M015979


(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 RCC2 Gene:
RCC2 (regulator of chromosome condensation 2) is a protein-coding gene. Diseases associated with RCC2 include basal cell carcinoma, and hepatitis c. An important paralog of this gene is SERGEF.

UniProtKB/Swiss-Prot: RCC2_HUMAN, Q9P258
Function: Required for completion of mitosis and cytokinesis. May function as a guanine nucleotide exchange factor
for the small GTPase RAC1

Gene Wiki entry for RCC2 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:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the RCC2 gene promoter:
         CBF-B   AML1a   Chx10   CP1A   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RCC2 promoter sequence
   Search Chromatin IP Primers for RCC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RCC2


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

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

RCC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RCC2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M017733:  view genomic region     (about GC identifiers)

Start:
17,733,251 bp from pter      End:
17,766,220 bp from pter
Size:
32,970 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RCC2_HUMAN, Q9P258 (See protein sequence)
Recommended Name: Protein RCC2  
Size: 522 amino acids; 56085 Da
Subunit: Binds preferentially to the nucleotide-free form of RAC1. Interacts with microtubules
Sequence caution: Sequence=BAA95994.1; Type=Erroneous initiation; Sequence=CAB94882.1; Type=Frameshift;
Positions=477;
Secondary accessions: Q8IVL9 Q9BSN6 Q9NPV8

Explore the universe of human proteins at neXtProt for RCC2: NX_Q9P258

Explore proteomics data for RCC2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys92, Lys293, Lys320, Lys349, Lys377
  • Modification sites at PhosphoSitePlus

  • See RCC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129676.1  NP_061185.1  

    ENSEMBL proteins: 
     ENSP00000364585   ENSP00000364582  
    Reactome Protein details: Q9P258

    RCC2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for RCC2
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RCC2

    RCC2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Cell Signaling Technology (CST) Antibodies for RCC2  (TD-60)
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    Novus Biologicals RCC2 Antibodies
    Abcam antibodies for RCC2
    Cloud-Clone Corp. Antibodies for RCC2
    ThermoFisher Antibody for RCC2
    LSBio Antibodies in human, mouse, rat for RCC2

    RCC2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RCC2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RCC2
    Cloud-Clone Corp. CLIAs for RCC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR028641 RCC2
     IPR009091 RCC1/BLIP-II
     IPR000408 Reg_chr_condens

    Graphical View of Domain Structure for InterPro Entry Q9P258

    ProtoNet protein and cluster: Q9P258

    1 Blocks protein domain: IPB000408 Regulator of chromosome condensation

    UniProtKB/Swiss-Prot: RCC2_HUMAN, Q9P258
    Similarity: Contains 7 RCC1 repeats


    RCC2 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RCC2_HUMAN, Q9P258
    Function: Required for completion of mitosis and cytokinesis. May function as a guanine nucleotide exchange factor
    for the small GTPase RAC1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008017microtubule binding IMP12919680
    GO:0044822poly(A) RNA binding IDA--
         
    RCC2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RCC2:
     Decreased circadian period len  Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RCC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RCC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RCC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RCC2

    miRNA
    Products:
        
    miRTarBase miRNAs that target RCC2:
    hsa-mir-210-3p (MIRT047008), hsa-mir-7-5p (MIRT025685), hsa-mir-9-5p (MIRT021351), hsa-mir-124-3p (MIRT022250), hsa-mir-3131 (MIRT052659), hsa-mir-182-5p (MIRT047181), hsa-mir-92a-3p (MIRT049492), hsa-mir-192-5p (MIRT048286), hsa-mir-484 (MIRT042027), hsa-mir-615-3p (MIRT040314), hsa-mir-1 (MIRT023502), hsa-mir-1226-3p (MIRT036431)

    Block miRNA regulation of human, mouse, rat RCC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RCC2 (see all 48):
    hsa-miR-29a hsa-miR-4275 hsa-miR-502-3p hsa-miR-548m hsa-miR-124 hsa-miR-3622b-3p hsa-miR-508-5p hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidRCC2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RCC2
    Predesigned siRNA for gene silencing in human, mouse, rat RCC2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RCC2

    Clone
    Products:
         
    OriGene clones in human, mouse for RCC2 (see all 11)
    OriGene ORF clones in mouse, rat for RCC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RCC2 (NM_000400)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RCC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RCC2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RCC2
    Browse ESI BIO Cell Lines and PureStem Progenitors for RCC2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RCC2


    (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
    RCC2_HUMAN, Q9P258: Nucleus, nucleolus. Chromosome, centromere. Cytoplasm, cytoskeleton, spindle. Note=Appears
    in the nucleus at G2, then concentrates at the inner centromere region of chromosomes during prophase.
    Redistributes to the midzone of the mitotic spindle during anaphase. Here, the protein covers the entire
    equatorial diameter from cortex to cortex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region ----
    GO:0005730nucleolus IEA--
    GO:0005819spindle ----
    GO:0005829cytosol TAS--
    GO:0005874microtubule IEA--

    RCC2 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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    SuperPaths for RCC2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    3Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92
    4Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    5Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for RCC2
        Cell Cycle / Checkpoint Control
    Cytoskeletal Signaling

    3 Reactome Pathways for RCC2
        Resolution of Sister Chromatid Cohesion
    Mitotic Prometaphase
    Separation of Sister Chromatids



    RCC2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RCC2
    Interactions:

        Search GeneGlobe Interaction Network for RCC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RCC2 (Q9P2583 ENSP000003645824) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AURKBQ96GD43, ENSP000003139504I2D: score=1 STRING: ENSP00000313950
    CDCA8Q53HL23, ENSP000003161214I2D: score=1 STRING: ENSP00000316121
    RAC1P630003, ENSP000003484614I2D: score=1 STRING: ENSP00000348461
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    ATG5Q9H1Y03, ENSP000003433134I2D: score=1 STRING: ENSP00000343313
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0007067mitosis IEA--
    GO:0007229integrin-mediated signaling pathway IDA19738201
    GO:0010971positive regulation of G2/M transition of mitotic cell cycle IMP12919680
    GO:0030334regulation of cell migration ISS--

    RCC2 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 RCC2

    3 HMDB Compounds for RCC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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,
    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 RCC2 gene (2 alternative transcripts): 
    NM_001136204.2  NM_018715.3  

    Unigene Cluster for RCC2:

    Regulator of chromosome condensation 2
    Hs.380857  [show with all ESTs]
    Unigene Representative Sequence: NM_018715
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375436(uc001bal.3 uc001bam.3) ENST00000474892 ENST00000375433

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RCC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RCC2 (see all 48):
    hsa-miR-29a hsa-miR-4275 hsa-miR-502-3p hsa-miR-548m hsa-miR-124 hsa-miR-3622b-3p hsa-miR-508-5p hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidRCC2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RCC2
    Predesigned siRNA for gene silencing in human, mouse, rat RCC2
    Clone
    Products:
         
    OriGene clones in human, mouse for RCC2 (see all 11)
    OriGene ORF clones in mouse, rat for RCC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RCC2 (NM_000400)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RCC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RCC2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for RCC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RCC2
      QuantiTect SYBR Green Assays in human, mouse, rat RCC2
      QuantiFast Probe-based Assays in human, mouse, rat RCC2

    Additional mRNA sequence: 

    AB040903.1 AJ421269.1 AK026005.1 AK126021.1 AL359612.1 BC004933.1 BC042141.1 BC053908.1 
    BC142946.1 

    20 DOTS entries:

    DT.100805235  DT.456264  DT.101987276  DT.101977209  DT.95119529  DT.97813661  DT.91886477  DT.91758883 
    DT.91758891  DT.97867745  DT.100848078  DT.121303350  DT.95249861  DT.102833822  DT.121412910  DT.449107 
    DT.87003895  DT.92414389  DT.97796686  DT.97866273 

    Selected AceView cDNA sequences (see all 487):

    BQ226204 BI860875 BC004933 CR594534 BX358213 CF136366 AW239425 BE906187 
    AA291084 BM806802 BM820882 BU740014 BU193085 BM798086 AI990778 BX363301 
    AW169809 BQ069634 CA748501 AI891124 BE018455 AW193051 CF528468 AW305184 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RCC2 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for RCC2

    (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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    RCC2 expression in normal human tissues (normalized intensities)      RCC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTTCCTAA
    RCC2 Expression
    About this image


    RCC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
    RCC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RCC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.380857
        Custom PCR Arrays for RCC2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for RCC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RCC2
    QuantiTect SYBR Green Assays in human, mouse, rat RCC2
    QuantiFast Probe-based Assays in human, mouse, rat RCC2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RCC2

    (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 eukaryotes.

    Orthologs for RCC2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rcc21 , 5 regulator of chromosome condensation 21, 5 87.69(n)1
    96.35(a)1
      4 (72.15 cM)5
    1089111  NM_173867.51  NP_776292.11 
     1407005415 
    chicken
    (Gallus gallus)
    Aves RCC21 regulator of chromosome condensation 2 83.61(n)
    94.15(a)
      419361  XM_004947289.1  XP_004947346.1 
    lizard
    (Anolis carolinensis)
    Reptilia RCC26
    regulator of chromosome condensation 2
    81(a)
    1 ↔ 1
    GL344443.1(21-32014)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.73882 Xenopus laevis transcribed sequence with moderate similarity more 76.72(n)    BX843204.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD759489.12   -- 79.31(n)    CD759489.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91351 CG9135 52.74(n)
    46.41(a)
      33850  NM_135141.2  NP_608985.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G198801 AT1G19880 48.52(n)
    39.9(a)
      838576  NM_101843.3  NP_173417.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g06628001 Os04g0662800 47.95(n)
    42.05(a)
      4337298  NM_001060694.1  NP_001054159.1 


    ENSEMBL Gene Tree for RCC2 (if available)
    TreeFam Gene Tree for RCC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RCC2 gene
    SERGEF2  RCBTB22  IBTK2  WBSCR162  RCC12  RPGR2  RCBTB12  

    RCC2 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for RCC2 (see all 10)
    PGOHUM00000242758 PGOHUM00000244513 PGOHUM00000237753 PGOHUM00000238101 PGOHUM00000245650


    (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 RCC2 (see all 843)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1458367121,2
    C--16013228(+) GGGACG/TCTCCA 1 -- us2k10--------
    rs1814545301,2
    --16013274(+) AAGCTA/GTCTGG 1 -- us2k10--------
    rs729064611,2
    C--16013319(+) TCTGAG/AGAGGT 1 -- us2k12Minor allele frequency- A:0.05WA 120
    rs1384015521,2
    --16013343(+) AGGGCC/TTGCAT 1 -- us2k10--------
    rs1895494631,2
    --17732797(+) GGGAGA/CGTGTC 2 -- int10--------
    rs1807468781,2
    --17732903(+) CGGGGA/CCTGAC 2 -- int10--------
    rs1131932221,2
    C--17732965(+) GGATGCCT/-CCTCC 2 -- cds11Minor allele frequency- -:0.50CSA 2
    rs106953081,2
    C--17732967(+) CCTCC-/TCCCATGA 2 -- cds10--------
    rs2006931841,2
    C--17732971(-) GTCATA/GGNNNN 2 -- int10--------
    rs38389491,2
    C--17733051(-) GACAG-/AGTCAGT 2 -- int12Minor allele frequency- AG:0.25NA 4

    HapMap Linkage Disequilibrium report for RCC2 (17733251 - 17766220 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RCC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821932CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing RCC2
    DNA2.0 Custom Variant and Variant Library Synthesis for RCC2

    (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.)
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    OMIM gene information: 609587    OMIM disorders: --

    6 diseases for RCC2:    About MalaCards
    basal cell carcinoma    hepatitis c    melanoma    hiv-1
    hepatitis    malaria


    RCC2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RCC2
    Human Genome Epidemiology (HuGE) Navigator: RCC2 (1 document)

    Export disorders for RCC2 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 RCC2 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with RCC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The mammalian passenger protein TD-60 is an RCC1 family member with an essential role in prometaphase to metaphase progression. (PubMed id 12919680)1, 2, 3, 9 Mollinari C.... Margolis R.L. (Dev. Cell 2003)
    2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    3. Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. (PubMed id 18849993)1, 4 Stacey S.N....Stefansson K. (Nat. Genet. 2008)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. 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)
    6. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    7. Colocalization of TD-60 and INCENP throughout G2 and mitosis: evidence for their possible interaction in signalling cytokinesis. (PubMed id 9914378)1, 2 Martineau-Thuillier S.... Margolis R.L. (Chromosoma 1998)
    8. Delay of HeLa cell cleavage into interphase using dihydrocytochalasin B: retention of a postmitotic spindle and telophase disc correlates with synchronous cleavage recovery. (PubMed id 7559776)1, 2 Martineau S.N.... Margolis R.L. (J. Cell Biol. 1995)
    9. Telophase disc: a new mammalian mitotic organelle that bisects telophase cells with a possible function in cytokinesis. (PubMed id 1939370)1, 2 Andreassen P.R.... Margolis R.L. (J. Cell Sci. 1991)
    10. MiR-29c is downregulated in gastric carcinomas and regulates cell proliferation by targeting RCC2. (PubMed id 23442884)1 Matsuo M....Moriyama M. (Mol. Cancer 2013)

    (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)
    About This Section

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    Entrez Gene: 55920 HGNC: 30297 AceView: TD-60 Ensembl:ENSG00000179051 euGenes: HUgn55920
    ECgene: RCC2 H-InvDB: RCC2

    (According to HUGE)
    About This Section

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    HUGE: KIAA1470

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RCC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RCC2 gene:
    Search GeneIP for patents involving RCC2

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



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