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

RIBC2 Gene

protein-coding   GIFtS: 40
GCID: GC22P045809

RIB43A domain with coiled-coils 2

(Previous name: chromosome 22 open reading frame 11 )
(Previous symbol: C22orf11)
  Search for RIBC2
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RIBC2    

Aliases
for RIBC2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
RIB43A Domain With Coiled-Coils 21 2
C22orf111 2 3
DKFZp566F05461
FLJ257201
Chromosome 22 Open Reading Frame 111
RIB43A-Like With Coiled-Coils Protein 22

External Ids:    HGNC: 132411   Entrez Gene: 261502   Ensembl: ENSG000001284087   UniProtKB: Q9H4K13   

Export aliases for RIBC2 gene to outside databases

Previous GC identifers: GC22P044130 GC22P028755


Summaries
for RIBC2 gene

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

Genomic Views
for RIBC2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RIBC2 gene promoter:
         Bach1   Sox5   NRSF form 1   Nkx2-5   NRSF form 2   HNF-3beta   C/EBPalpha   Nkx6-1   c-Myb   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RIBC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RIBC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RIBC2


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: 22q13.3

RIBC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIBC2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P045809:  view genomic region     (about GC identifiers)

Start:
 45,809,572 bp from pter      End:
 45,828,376 bp from pter
Size:
 18,805 bases      Orientation:
 plus strand

Proteins
for RIBC2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RIBC2_HUMAN, Q9H4K1 (See protein sequence)
Recommended Name: RIB43A-like with coiled-coils protein 2  
Size: 309 amino acids; 37060 Da
Secondary accessions: Q6ICD0 Q9Y413

Explore the universe of human proteins at neXtProt for RIBC2: NX_Q9H4K1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H4K1

    • RIBC2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056468.2  
    ENSEMBL proteins: 
     ENSP00000342529   ENSP00000444196  

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    Protein Domains /
    Families
    for RIBC2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RIBC2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008805 RIB43A

    Graphical View of Domain Structure for InterPro Entry Q9H4K1

    ProtoNet protein and cluster: Q9H4K1

    UniProtKB/Swiss-Prot: RIBC2_HUMAN, Q9H4K1
    Similarity: Belongs to the RIB43A family


    Function
    for RIBC2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    Inhib. RNA
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    Pathways & Interactions
    for RIBC2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RIBC2

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

    5/45 Interacting proteins for RIBC2 (Q9H4K13 ENSP000003425294) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158343, ENSP000003116954I2D: score=4 STRING: ENSP00000311695
    JUPP149233, ENSP000003111134I2D: score=4 STRING: ENSP00000311113
    KRT15P190123, ENSP000002540434I2D: score=4 STRING: ENSP00000254043
    NINLQ9Y2I63, ENSP000002788864I2D: score=4 STRING: ENSP00000278886
    NRBP1Q9UHY13, ENSP000002335574I2D: score=4 STRING: ENSP00000233557
    About this table

    Drugs & Compounds
    for RIBC2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 RIBC2
    Search CenterWatch for drugs/clinical trials and news about RIBC2 

    Transcripts
    for RIBC2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for RIBC2 gene: 
    NM_015653.4  

    Unigene Cluster for RIBC2:

    RIB43A domain with coiled-coils 2
    Hs.475110  [show with all ESTs]
    Unigene Representative Sequence: BC003024
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342894(uc011aqs.2) ENST00000498265 ENST00000466226 ENST00000538017


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    Inhib. RNA
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    Additional cDNA sequence: 

    AK098586.1 AK225722.1 AL050075.1 AL442116.1 BC003024.1 BC009904.2 CR456438.1 CR457398.1 

    3 DOTS entries:

    DT.87015638  DT.422404  DT.97814400 

    24/46 AceView cDNA sequences (see all 46):

    AL442116 AI968595 AI636773 AI968566 BE466793 AI671905 BU622987 BM969800 
    BI260080 BP370317 BG823625 BP368881 BC009904 BM972155 BM972599 BX644978 
    BM715551 AK098586 BQ439311 BV205877 NM_015653 BI831088 BC003024 BI828008 

    GeneLoc Exon Structure


    Expression
    for RIBC2 gene

    (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

    RIBC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RIBC2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneEndochondral Facial BonesBone
    BoneStylopod Long BoneBone
    BoneThoracic RibBone
    Skeletal MuscleLumbar Vertebrae Column MusclesSkeletal Muscle
    SomiteLumbar Hypaxial MyotomeSomite
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RIBC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RIBC2

    SOURCE GeneReport for Unigene cluster: Hs.475110
        SABiosciences Custom PCR Arrays for RIBC2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RIBC2
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIBC2

    Orthologs
    for RIBC2 gene

    (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 RIBC2 gene from 4/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves RIBC21 RIB43A domain with coiled-coils 2 63.25(n)
    58.76(a)    		   418244  XM_416468.3  XP_416468.2 
    lizard
    (Anolis carolinensis)    		 Reptilia RIBC26
    		 --
    		 56(a)
    		 1 ↔ 1
    		 5(84247022-84257377)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1715731 zgc:171573 49.86(n)
    40.79(a)    		   568595  XM_691932.3  XP_697024.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG72641 CG7264 42.88(n)
    31.56(a)    		   39339  NM_140258.3  NP_648515.1 


    ENSEMBL Gene Tree for RIBC2 (if available)
    TreeFam Gene Tree for RIBC2 (if available) 

    Paralogs
    for RIBC2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RIBC2 gene
    RIBC12  
    1 SIMAP similar gene for RIBC2 using alignment to 2 protein entries:     RIBC2_HUMAN (see all proteins):
    RIBC1

    RIBC2 for paralogs           About GeneDecksing



    Genomic Variants
    for RIBC2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/90 NCBI SNPs in RIBC2 are shown (see all 90)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs107083471,2
    		C,--28755054(+) AGGGT-/GGGGGG 1 -- us2k11Minor allele frequency- G:0.00CSA 2
    rs726195691,2
    		F,--28755092(+) GGCGAG/AGGCCG 1 -- us2k13Minor allele frequency- A:0.06WA NA EA 358
    rs1179804211,2
    		C,F,--28755224(+) GGAGGG/AACAAG 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs22728051,2
    		C,A,H,--28755813(+) CCTGCG/ACTACA 1 -- ut51 ese37Minor allele frequency- A:0.13EA NA WA 2026
    rs734463041,2
    		C,--28756120(+) GAGGCA/TGCAAA 1 -- int12Minor allele frequency- T:0.07WA 120
    rs594049931,2
    		C--28756395(+) GAAACC/-TTTGG 2 /TF /TLC fra11Minor allele frequency- -:0.00NA 2
    rs734463061,2
    		C,--28756425(+) TATCTA/CTTGGT 1 -- int12Minor allele frequency- C:0.07WA 120
    rs753392851,2
    		F,--28756565(+) TCCTGC/AGTGCA 1 -- int11Minor allele frequency- A:0.05WA 118
    rs756825071,2
    		F,--28756988(+) AATCAT/CAGTAT 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1167149741,2
    		C,F,--28757041(+) CTTCAA/GATACA 1 -- int11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for RIBC2 (45809572 - 45828376 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for RIBC2
         7 CNVs: 50878 8906 31097 4132 50879 50877 3244

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    Disorders / Diseases
    for RIBC2 gene

    (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.)
    About This Section
    		   --

    Publications
    for RIBC2 gene

    (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 RIBC2 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with RIBC2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    5. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    9. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    10. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    External Searches for RIBC2 gene

    (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)

    Genome Databases showing RIBC2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26150 HGNC: 13241 AceView: RIBC2 Ensembl:ENSG00000128408 euGenes: HUgn26150
    ECgene: RIBC2 H-InvDB: RIBC2

    Other Databases showing RIBC2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RIBC2 gene

    (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 RIBC2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for RIBC2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for RIBC2 gene:
    Search GeneIP for patents involving RIBC2

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



    Products
    for RIBC2 gene

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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    von Willebrand factor
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