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RBM12 Gene

protein-coding   GIFtS: 47
GCID: GC20M034236

RNA Binding Motif Protein 12

  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
RNA Binding Motif Protein 121 2     HRIHFB20912
SWAN2 3     RNA-Binding Protein 122
RNA-Binding Motif Protein 122 3     KIAA07653
SH3/WW Domain Anchor Protein In The Nucleus2 3     

External Ids:    HGNC: 98981   Entrez Gene: 101372   Ensembl: ENSG000002444627   OMIM: 6071795   UniProtKB: Q9NTZ63   

Export aliases for RBM12 gene to outside databases

Previous GC identifers: GC20U990034 GC20M033933 GC20M034882 GC20M034930 GC20M034931 GC20M033678 GC20M033700 GC20M031014


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RBM12 Gene:
This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and
proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing
in the 5' UTR results in four transcript variants. All variants encode the same protein. (provided by RefSeq, Nov
2010)

GeneCards Summary for RBM12 Gene:
RBM12 (RNA binding motif protein 12) is a protein-coding gene. Diseases associated with RBM12 include gas gangrene, and monocytic leukemia. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is RBM12B.

Gene Wiki entry for RBM12 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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Regulatory elements:
   Regulatory transcription factor binding sites in the RBM12 gene promoter:
         TBP   GR   Sox5   AML1a   Pax-5   SEF-1 (1)   GR-alpha   AP-2gamma   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RBM12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBM12


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

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.21

RBM12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBM12 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M034236:  view genomic region     (about GC identifiers)

Start:
34,236,847 bp from pter      End:
34,252,878 bp from pter
Size:
16,032 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RBM12_HUMAN, Q9NTZ6 (See protein sequence)
Recommended Name: RNA-binding protein 12  
Size: 932 amino acids; 97395 Da
Sequence caution: Sequence=BAA34485.2; Type=Erroneous initiation;
5 PDB 3D structures from and Proteopedia for RBM12:
1WEL (3D)        2CPY (3D)        2DNN (3D)        2EK1 (3D)        2EK6 (3D)    
Secondary accessions: B3KRU2 E1P5R6 O94865 Q8N3B1 Q9H196

Explore the universe of human proteins at neXtProt for RBM12: NX_Q9NTZ6

Explore proteomics data for RBM12 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys349
  • Modification sites at PhosphoSitePlus

  • See RBM12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001185767.1  NP_001185769.1  NP_006038.2  NP_690051.1  

    ENSEMBL proteins: 
     ENSP00000363228   ENSP00000352668   ENSP00000363217   ENSP00000411036   ENSP00000392642  
     ENSP00000411692  

    RBM12 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for RBM12
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    Novus Biologicals RBM12 Proteins
    Novus Biologicals RBM12 Lysates
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    Cloud-Clone Corp. Proteins for RBM12

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    LSBio Antibodies in human, mouse, rat for RBM12

    RBM12 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RBM12
    Cloud-Clone Corp. CLIAs for RBM12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

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

    Graphical View of Domain Structure for InterPro Entry Q9NTZ6

    ProtoNet protein and cluster: Q9NTZ6

    UniProtKB/Swiss-Prot: RBM12_HUMAN, Q9NTZ6
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    RBM12 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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         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
    GO:0044822poly(A) RNA binding IDA--
         
    RBM12 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RBM12:
     Synthetic lethal with gemcitab 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbm12):
     embryogenesis  growth/size/body  nervous system 

    RBM12 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBM12
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBM12
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBM12

    miRNA
    Products:
        
    miRTarBase miRNAs that target RBM12:
    hsa-let-7d-5p (MIRT032119), hsa-let-7b-5p (MIRT052047), hsa-mir-182-5p (MIRT047177), hsa-mir-34a-5p (MIRT025312)

    Block miRNA regulation of human, mouse, rat RBM12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBM12 (see all 116):
    hsa-miR-124* hsa-miR-549 hsa-miR-579 hsa-miR-607 hsa-miR-3607-3p hsa-miR-15a hsa-miR-200a hsa-miR-1245
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBM12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBM12

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM12


    (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
    RBM12_HUMAN, Q9NTZ6: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane3
    cytosol1
    extracellular1
    lysosome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    RBM12 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBM12
    Interactions:

        Search GeneGlobe Interaction Network for RBM12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for RBM12 (Q9NTZ62, 3 ENSP000003526684) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GIGYF2Q6Y7W62, 3, ENSP000003871704MINT-65886 MINT-65889 I2D: score=3 STRING: ENSP00000387170
    CD2BP2O954002, 3, ENSP000003049034MINT-62653 I2D: score=1 STRING: ENSP00000304903
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    TBC1D4O603433, ENSP000003668634I2D: score=3 STRING: ENSP00000366863
    CD19P153913I2D: score=2 
    About this table

    (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 RBM12



    (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,
    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 RBM12 gene (4 alternative transcripts): 
    NM_001198838.1  NM_001198840.1  NM_006047.5  NM_152838.3  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374114(uc002xdq.3 uc002xds.3 uc002xdr.3 uc021wcq.1)
    ENST00000359646 ENST00000374104 ENST00000424458 ENST00000431148 ENST00000435161

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RBM12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBM12 (see all 116):
    hsa-miR-124* hsa-miR-549 hsa-miR-579 hsa-miR-607 hsa-miR-3607-3p hsa-miR-15a hsa-miR-200a hsa-miR-1245
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RBM12
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    GenScript: all cDNA clones in your preferred vector (see all 4): RBM12 (NM_006047)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBM12
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    OriGene qPCR primer pairs and template standards for RBM12
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    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat RBM12
      QuantiTect SYBR Green Assays in human, mouse, rat RBM12
      QuantiFast Probe-based Assays in human, mouse, rat RBM12

    Selected AceView cDNA sequences (see all 865):

    BX403476 AI810016 BM969171 AW817441 BQ067024 BM769655 BI093663 BQ688053 
    BM424008 AA291148 BF313897 BE741047 AA428806 BU175328 BQ689297 BM757881 
    BI091889 BQ920246 BU741622 CB528563 AA677513 AI474397 BQ653368 BG110580 

    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™, 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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    RBM12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCCTTTG
    RBM12 Expression
    About this image

    RBM12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBM12 Protein Expression
        Custom PCR Arrays for RBM12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM12

    (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 animals.

    Orthologs for RBM12 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbm121 , 5 RNA binding motif protein 121, 5 90.97(n)1
    92.87(a)1
      2 (77.35 cM)5
    757101  NM_170598.21  NP_733486.21 
     1560919585 
    chicken
    (Gallus gallus)
    Aves RBM121 RNA binding motif protein 12 79.24(n)
    84.31(a)
      404531  NM_206986.1  NP_996869.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBM126
    RNA binding motif protein 12
    81(a)
    1 ↔ 1
    4(134399306-134403049)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rbm121 RNA binding motif protein 12 70.31(n)
    69.89(a)
      100038118  XM_002932890.2  XP_002932936.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rbm121 RNA binding motif protein 12 71.89(n)
    72.39(a)
      445379  NM_001003856.1  NP_001003856.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG78796
    --
    19(a)
    1 → many
    3L(1559813-1568608)
    worm
    (Caenorhabditis elegans)
    Secernentea Y106G6D.76
    Protein Y106G6D.7 (Y106G6D.7) mRNA, complete cds
    20(a)
    1 → many
    I(10122471-10130216) WBGene00013703


    ENSEMBL Gene Tree for RBM12 (if available)
    TreeFam Gene Tree for RBM12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBM12 gene
    RBM12B2  HNRNPH32  ESRP12  HNRNPH22  GRSF12  ESRP22  HNRNPH12  HNRNPF2  
    2 SIMAP similar genes for RBM12 using alignment to 4 protein entries:     RBM12_HUMAN (see all proteins):
    DKFZp667H197    RBM12B

    RBM12 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), 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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    2 SNPs for RBM12    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs170929281,2,4
    ----see VAR_0522172 mis40--------
    rs61210121,2,4
    ----see VAR_0522182 mis40--------

    HapMap Linkage Disequilibrium report for RBM12 (34236847 - 34252878 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RBM12:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv526188CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBM12
    DNA2.0 Custom Variant and Variant Library Synthesis for RBM12

    (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.)
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    OMIM gene information: 607179    OMIM disorders: --

    4 diseases for RBM12:    
    About MalaCards
    gas gangrene    monocytic leukemia    acute monocytic leukemia    leukemia

    1 disease from the University of Copenhagen DISEASES database for RBM12:
    Gas gangrene

    RBM12 for disorders           About GeneDecksing


    Export disorders for RBM12 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 RBM12 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with RBM12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning, chromosomal assignment, and genomic structure of a human gene encoding a novel member of the RBM family. (PubMed id 11435693)1, 2, 3 Stover C.M....Schwaeble W.J. (Cytogenet. Cell Genet. 2001)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    3. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    8. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    9. Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)1, 2 Ueki N.... Muramatsu M.-A. (Nat. Biotechnol. 1998)
    10. Promoter-sharing by different genes in human genome--CPNE1 and RBM12 gene pair as an example. (PubMed id 18831769)1, 9 Yang W....Lau Y.L. (BMC Genomics 2008)

    (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)
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    Entrez Gene: 10137 HGNC: 9898 AceView: CPNE1 Ensembl:ENSG00000244462 euGenes: HUgn10137
    ECgene: RBM12 H-InvDB: RBM12

    (According to HUGE)
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    HUGE: KIAA0765

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RBM12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBM12 gene:
    Search GeneIP for patents involving RBM12

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