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

RIBC2 Gene

protein-coding   GIFtS: 42
GCID: GC22P045809

RIB43A Domain With Coiled-Coils 2

(Previous name: chromosome 22 open reading frame 11)
(Previous symbol: C22orf11)
  Search for RIBC2
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
RIB43A Domain With Coiled-Coils 21 2
C22orf111 2 3
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


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

GeneCards Summary for RIBC2 Gene: 
RIBC2 (RIB43A domain with coiled-coils 2) is a protein-coding gene. An important paralog of this gene is RIBC1.


(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:
   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 plasmidRIBC2 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

(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: 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

Explore proteomics data for RIBC2 at MOPED 

Post-translational modifications:

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

  • RIBC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RIBC2 Protein Expression
    REFSEQ proteins: NP_056468.2  
    ENSEMBL proteins: 
     ENSP00000342529   ENSP00000444196  

    Human Recombinant Protein Products for RIBC2: 
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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:
     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


    RIBC2 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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RIBC2 
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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 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

    (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 RIBC2

    Search CenterWatch for drugs/clinical trials and news about RIBC2

    (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 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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RIBC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RIBC2
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    Additional mRNA 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):

    BE466793 AL442116 BU622987 AI968566 AI671905 AI968595 AI636773 BX644978 
    BC009904 AI205482 BM972599 BI260080 AW250691 BM715551 BQ439311 AW651712 
    AW673173 BI828008 BM969800 CR457398 CR456438 BI831088 NM_015653 AK098586 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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)      RIBC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RIBC2 Expression
    About this image


    RIBC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Endochondral Facial Bones
             skeleton/cranium/viscerocranium   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             skeleton/cranium/viscerocranium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             skeleton/cranium/viscerocranium   
     
     Eye (Sensory Organs)
             retinal amacrine cell p0   
     
     Skeletal Muscle (Muscoskeletal System)
             Lumbar Vertebrae Column Muscles

    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
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIBC2

    (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 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ribc21 , 5 RIB43A domain with coiled-coils 21, 5 79.31(n)1
    70.03(a)1
      15 (40.25 cM)5
    677471  NM_026357.21  NP_080633.21 
     851320995 
    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
    Uncharacterized protein
    56(a)
    1 ↔ 1
    5(84243231-84258209)
    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 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



    (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

    10/556 SNPs in RIBC2 are shown (see all 556)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1930982821,2
    --29724667(+) CACCAC/TGTCAG 1 -- us2k10--------
    rs1858567841,2
    --29724764(+) CTCCCA/GGGTTC 1 -- us2k10--------
    rs1406377691,2
    --29724802(+) AGTAGC/GTGGTA 1 -- us2k10--------
    rs60070251,2
    C,F,H--29724818(+) ggcacA/Gtgaca 1 -- us2k1 tfbs35Minor allele frequency- G:0.44NA WA CSA 9
    rs1891693561,2
    --29724886(+) AGGCTA/GGTTTC 1 -- us2k10--------
    rs121065221,2
    C--29724947(+) gattaC/Taggca 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1915480741,2
    --29725086(+) CTCCCA/GGGTTC 1 -- us2k10--------
    rs797381781,2
    C--29725281(+) CCACCG/ACGCCC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1495981011,2
    --29725359(+) AATGGC/TGTGTC 1 -- us2k10--------
    rs19855871,2
    C,F,A,H--29725363(+) gcgtgA/Tccttg 1 -- us2k14Minor allele frequency- T:0.29NA WA CSA 7

    HapMap Linkage Disequilibrium report for RIBC2 (45809572 - 45828376 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for RIBC2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724402CNV Deletion23290073
    nsv3651CNV Insertion18451855
    nsv525550CNV Loss19592680
    nsv834221CNV Loss17160897
    nsv471210CNV Gain18288195
    esv34218CNV Gain17911159
    nsv515690CNV Gain+Loss19592680
    nsv9921CNV Gain+Loss18304495
    dgv1411e1CNV Complex17122850

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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

    RIBC2 for disorders           About MalaCards

    RIBC2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RIBC2

    Export disorders for RIBC2 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 RIBC2 gene, integrated from 9 sources (see all 12):
    (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. A genome-wide association study identifies a novel ma jor locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (2010)
    6. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)

    (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: 26150 HGNC: 13241 AceView: RIBC2 Ensembl:ENSG00000128408 euGenes: HUgn26150
    ECgene: RIBC2 H-InvDB: RIBC2

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (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

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    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 


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