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

RBM12B Gene

protein-coding   GIFtS: 44
GCID: GC08M094813

RNA binding motif protein 12B

 Explore 2 diseases affiliated with
RBM12B via our new
 Human Malady Compendium 
Biological research products
for RBM12B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RNA Binding Motif Protein 12B1 2
RNA-Binding Motif Protein 12B2 3
MGC:338372
RNA-Binding Protein 12B2

External Ids:    HGNC: 323101   Entrez Gene: 3896772   Ensembl: ENSG000001838087   UniProtKB: Q8IXT53   

Export aliases for RBM12B gene to outside databases

Previous GC identifer: GC08M089951


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

  --

(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_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBM12B gene promoter:
         STAT1   STAT4   STAT1beta   STAT5A   STAT1alpha   POU2F1   STAT2   POU2F1a   Sox9   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBM12B promoter sequence
   Search SABiosciences Chromatin IP Primers for RBM12B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBM12B


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

Entrez Gene cytogenetic band: 8q22.1   Ensembl cytogenetic band:  8q22.1   HGNC cytogenetic band: 8q22

RBM12B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBM12B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M094813:  view genomic region     (about GC identifiers)

Start:
94,741,584 bp from pter      End:
94,753,245 bp from pter
Size:
11,662 bases      Orientation:
minus strand

(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: RB12B_HUMAN, Q8IXT5 (See protein sequence)
Recommended Name: RNA-binding protein 12B  
Size: 1001 amino acids; 118103 Da
Secondary accessions: A8MYB5

Explore the universe of human proteins at neXtProt for RBM12B: NX_Q8IXT5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IXT5

  • RBM12B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_976324.2  
    ENSEMBL proteins: 
     ENSP00000382239   ENSP00000427729   ENSP00000430474   ENSP00000428269   ENSP00000429807  
     ENSP00000430466  

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

    RBM12B for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q8IXT5

    ProtoNet protein and cluster: Q8IXT5

    UniProtKB/Swiss-Prot: RB12B_HUMAN, Q8IXT5
    Similarity: Contains 4 RRM (RNA recognition motif) domains


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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI--


    RBM12B for ontologies           About GeneDecksing



    (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 RBM12B

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for RBM12B (Q8IXT51, 3 ENSP000003822394) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1AO005551, 3EBI-3044077,EBI-766279 I2D: score=1 
    MAP1LC3AQ9H4923, ENSP000003639704I2D: score=1 STRING: ENSP00000363970
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    (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 RBM12B
    Search CenterWatch for drugs/clinical trials and news about RBM12B / RB12B 

    (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,
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    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 RBM12B gene: 
    NM_203390.2  

    Unigene Cluster for RBM12B:

    RNA binding motif protein 12B
    Hs.606916  [show with all ESTs]
    Unigene Representative Sequence: NM_203390
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399300(uc003yfz.3) ENST00000517700 ENST00000520961 ENST00000519109
    ENST00000518597 ENST00000520560 ENST00000521947

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    hsa-miR-411* hsa-miR-26a-2* hsa-miR-379* hsa-miR-300 hsa-miR-429 hsa-miR-513a-5p hsa-miR-548l hsa-miR-3908
    SwitchGear 3'UTR luciferase reporter plasmidRBM12B 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: BC039260.1 

    5 DOTS entries:

    DT.442203  DT.121467836  DT.102829155  DT.95346106  DT.100654411 

    24/70 AceView cDNA sequences (see all 70):

    BX095016 BX488985 BX462881 AA922008 BG944479 BM713325 BU681085 BE549821 
    CD678931 AA406490 BX387160 BQ069253 AA314461 BX345112 AI810636 CD678930 
    BM713201 BX341143 BU506977 AI913932 BU790011 CA950671 BX431733 W23872 

    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

    RBM12B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTGACTTTG

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

    About this image

    RBM12B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSecondary SpermatocyteGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RBM12B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBM12B

    SOURCE GeneReport for Unigene cluster: Hs.606916
        SABiosciences Custom PCR Arrays for RBM12B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM12B

    (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 RBM12B gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RBM12B1 RNA binding motif protein 12B 67.68(n)
    58.57(a)
      420223  NM_001030944.1  NP_001026115.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBM12B6
    --
    33(a)
    1 ↔ 1
    4(18705456-18724572)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060345.12   -- 75.73(n)    BC060345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:561481 zgc:56148 51.34(n)
    39.33(a)
      334496  XM_003200159.1  XP_003200207.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG78796
    --
    15(a)
    1 → many
    3L(1559813-1568608)
    worm
    (Caenorhabditis elegans)
    Secernentea Y106G6D.76
    Protein Y106G6D.7
    14(a)
    possible ortholog
    I(10122461-10130206)


    ENSEMBL Gene Tree for RBM12B (if available)
    TreeFam Gene Tree for RBM12B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBM12B gene
    HNRNPH32  ESRP12  HNRNPH22  GRSF12  ESRP22  HNRNPH12  HNRNPF2  RBM122  
    2 SIMAP similar genes for RBM12B using alignment to 6 protein entries:     RB12B_HUMAN (see all proteins):
    RBM12    HNRNPH1

    RBM12B for paralogs           About GeneDecksing



    (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

    10/148 NCBI SNPs in RBM12B are shown (see all 148    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1931947211,2
    --94743230(+) CAAATA/CATAAA 1 -- int10--------
    rs1398699021,2
    --94743292(+) CTGAGA/GCAGGA 1 -- int10--------
    rs1846826901,2
    --94743349(+) GACCAC/TTGCAC 1 -- int10--------
    rs1494326041,2
    --94743477(+) ATGCAA/GTTCCA 1 -- int10--------
    rs1899535831,2
    --94743549(+) TTTTTA/TAACTT 1 -- int10--------
    rs1813478001,2
    --94743573(+) CAAAAA/TGGGTG 1 -- int10--------
    rs358686371,2
    C,F,--94743876(+) CTGACA/GAAGTA 1 -- ut314Minor allele frequency- G:0.03NA 126
    rs1835026091,2
    --94743929(+) TGTAAA/GTTTAA 1 -- ut310--------
    rs1387969341,2
    C,--94744221(+) AAAAT-/AATC  
            
    ATTTA
    1 -- ut310--------
    rs1448161421,2
    --94744343(+) CCCCAC/TGATTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RBM12B (94741584 - 94753245 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RBM12B: --

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    (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

    RBM12B for disorders           About GeneDecksing

    2 diseases for RBM12B:    About MalaCards
    macular degeneration    ataxia


    Export disorders for RBM12B 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 RBM12B gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with RBM12B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    2. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    3. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. Purification and identification of endogenous polySUMO conjugates. (PubMed id 21252943)1 Bruderer R....Hay R.T. (2011)
    6. Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (2011)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    8. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)
    9. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)

    (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: 389677 HGNC: 32310 AceView: LOC389677 Ensembl:ENSG00000183808 euGenes: HUgn389677
    ECgene: RBM12B H-InvDB: RBM12B

    (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 RBM12B 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 RBM12B gene:
    Search GeneIP for patents involving RBM12B

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    Advanced Cell Diagnostics
    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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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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