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

RBM4 Gene

protein-coding   GIFtS: 56
GCID: GC11P066394

RNA Binding Motif Protein 4

  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)
About This Section

Aliases
RNA Binding Motif Protein 41 2     RNA-Binding Protein 42
Lark Homolog2 3     Transcriptional Coactivator CoAZ2
RBM4A2 3     Zinc Finger CCHC-Type And RNA Binding Motif 3A2
RNA-Binding Motif Protein 4a2 3     hLark3
LARK2     RNA-Binding Motif Protein 43
ZCCHC212     RBM4. LARK5
ZCRB3A2     

External Ids:    HGNC: 99011   Entrez Gene: 59362   Ensembl: ENSG000001739337   OMIM: 6025715   UniProtKB: Q9BWF33   

Export aliases for RBM4 gene to outside databases

Previous GC identifers: GC11P068940 GC11P068087 GC11P066635 GC11P066181 GC11P066162 GC11P066142 GC11P066385 GC11P066406 GC11P062734


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

GeneCards Summary for RBM4 Gene: 
RBM4 (RNA binding motif protein 4) is a protein-coding gene. Diseases associated with RBM4 include lipogranulomatosis, and farber lipogranulomatosis. GO annotations related to this gene include mRNA binding and RNA binding. An important paralog of this gene is RBM4B.

UniProtKB/Swiss-Prot: RBM4_HUMAN, Q9BWF3
Function: RNA-binding factor involved in multiple aspects of cellular processes like alternative splicing of
pre-mRNA and translation regulation. Modulates alternative 5'-splice site and exon selection. Acts as a muscle
cell differentiation-promoting factor. Activates exon skipping of the PTB pre-mRNA during muscle cell
differentiation. Antagonizes the activity of the splicing factor PTBP1 to modulate muscle cell-specific exon
selection of alpha tropomyosin. Binds to intronic pyrimidine-rich sequence of the TPM1 and MAPT pre-mRNAs.
Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the
3'-UTR of the PER1 mRNA. Exerts a suppressive activity on Cap-dependent translation via binding to CU-rich
responsive elements within the 3'UTR of mRNAs, a process increased under stress conditions or during myocytes
differentiation. Recruits EIF4A1 to stimulate IRES-dependent translation initiation in respons to cellular
stress. Associates to internal ribosome entry segment (IRES) in target mRNA species under stress conditions.
Plays a role for miRNA-guided RNA cleavage and translation suppression by promoting association of
AGO2-containing miRNPs with their cognate target mRNAs. Associates with miRNAs during muscle cell
differentiation. Binds preferentially to 5'-CGCGCG[GCA]-3' motif in vitro

Gene Wiki entry for RBM4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBM4 gene promoter:
         E2F-4   E2F-3a   E2F-5   CUTL1   E2F-2   AREB6   E2F-1   E2F   HOXA5   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBM4 promoter sequence
   Search SABiosciences Chromatin IP Primers for RBM4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBM4


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13

RBM4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBM4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P066394:  view genomic region     (about GC identifiers)

Start:
66,384,097 bp from pter      End:
66,435,856 bp from pter
Size:
51,760 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: RBM4_HUMAN, Q9BWF3 (See protein sequence)
Recommended Name: RNA-binding protein 4  
Size: 364 amino acids; 40314 Da
Subunit: Interacts with TNPO3; the interaction mediates nuclear import of the protein and is disrupted by nuclear
Ran bound to GTP. Interacts with EIF4G1 and WT1. Interacts with EIF4A1; the interaction is modulated under
stress-induced conditions. Interacts with AGO1. Interacts with AGO2; the interaction occurs under both cell
proliferation and differentiation conditions and in a RNA- and phosphorylation-independent manner. Interacts with
DDX5; the interaction occurs in a RNA-independent manner
Subcellular location: Nucleus. Nucleus, nucleolus. Nucleus speckle. Cytoplasm. Cytoplasmic granule. Note=Undergoes
continuous nucleocytoplasmic shuttling. Upon nuclear import colocalizes with SR proteins in nuclear speckles.
Arsenite stress-induced phosphorylation increases its subcellular relocalization from the nucleus to the
cytoplasm and to cytoplasmic stress granules (SG) via a p38 MAPK signaling pathway. Primarily localized in
nucleus and nucleoli under cell growth conditions and accumulated in the cytoplasm and cytoplasm perinuclear
granules upon muscle cell differentiation
Developmental stage: Found to be expressed in fetal brain. Down-regulated in fetal Down syndrome (DS) brain
Sequence caution: Sequence=AAC51293.1; Type=Frameshift; Positions=234;
1 PDB 3D structure from and Proteopedia for RBM4:
2DNQ (3D)    
Secondary accessions: B3KUN0 B4E1U0 E7EQS3 O02916 Q4VC48 Q6P1P2 Q8WU85
Alternative splicing: 4 isoforms:  Q9BWF3-1   Q9BWF3-2   Q9BWF3-3   Q9BWF3-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RBM4: NX_Q9BWF3

Explore proteomics data for RBM4 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Ser-309 is induced upon cell muscle differentiation (By similarity). Phosphorylated.
    Phosphorylated in vitro on Ser-309 by SRPK1. Phosphorylation on Ser-309 is induced upon cell stress signaling,
    which alters its subcellular localization and may modulate its activity on IRES-mediated mRNA translation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BWF3

  • RBM4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RBM4 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001185772.1  NP_001185773.1  NP_002887.2  

    ENSEMBL proteins: 
     ENSP00000309166   ENSP00000413497   ENSP00000386561   ENSP00000464349   ENSP00000435821  
     ENSP00000381680   ENSP00000422301   ENSP00000423572   ENSP00000432150   ENSP00000432020  
     ENSP00000386894   ENSP00000425446   ENSP00000425760  

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    Cloud-Clone Corp. Proteins for RBM4 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16777844
    GO:0005654nucleoplasm IDA12628928
    GO:0005730nucleolus IDA12628928
    GO:0005737cytoplasm IDA12628928
    GO:0010494cytoplasmic stress granule IDA17284590

    RBM4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZCCHC: Zinc fingers, CCHC domain containing
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom
     IPR001878 Znf_CCHC

    Graphical View of Domain Structure for InterPro Entry Q9BWF3

    ProtoNet protein and cluster: Q9BWF3

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB001878 C2HC-type zinc-finger signature


    UniProtKB/Swiss-Prot: RBM4_HUMAN, Q9BWF3
    Similarity: Contains 1 CCHC-type zinc finger
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    RBM4 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBM4_HUMAN, Q9BWF3
    Function: RNA-binding factor involved in multiple aspects of cellular processes like alternative splicing of
    pre-mRNA and translation regulation. Modulates alternative 5'-splice site and exon selection. Acts as a muscle
    cell differentiation-promoting factor. Activates exon skipping of the PTB pre-mRNA during muscle cell
    differentiation. Antagonizes the activity of the splicing factor PTBP1 to modulate muscle cell-specific exon
    selection of alpha tropomyosin. Binds to intronic pyrimidine-rich sequence of the TPM1 and MAPT pre-mRNAs.
    Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the
    3'-UTR of the PER1 mRNA. Exerts a suppressive activity on Cap-dependent translation via binding to CU-rich
    responsive elements within the 3'UTR of mRNAs, a process increased under stress conditions or during myocytes
    differentiation. Recruits EIF4A1 to stimulate IRES-dependent translation initiation in respons to cellular
    stress. Associates to internal ribosome entry segment (IRES) in target mRNA species under stress conditions.
    Plays a role for miRNA-guided RNA cleavage and translation suppression by promoting association of
    AGO2-containing miRNPs with their cognate target mRNAs. Associates with miRNAs during muscle cell
    differentiation. Binds preferentially to 5'-CGCGCG[GCA]-3' motif in vitro

         Genatlas biochemistry entry for RBM4:
    RNA binding protein,Drosophila lark homolog,ubiquitously expressed

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IDA19561594
    GO:0003729mRNA binding IDA--
    GO:0003730mRNA 3'-UTR binding ISS--
         
    RBM4 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbm4):
     endocrine/exocrine gland  growth/size  homeostasis/metabolism 

    RBM4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RBM4 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBM4 
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    miRNA
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    miRTarBase miRNAs that target RBM4:
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    hsa-miR-3934 hsa-miR-485-5p hsa-miR-328 hsa-miR-3133 hsa-miR-3125 hsa-miR-3916 hsa-miR-186 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidRBM4 3' UTR sequence
    Inhib. RNA
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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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBM4

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

    5/840 Interacting proteins for RBM4 (Q9BWF32, 3 ENSP000003091664) via UniProtKB, MINT, STRING, and/or I2D (see all 840)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD5Q997172, 3MINT-61835 I2D: score=3 
    PABPC1P119402, ENSP000003130074MINT-7945693 MINT-6489539 MINT-8339026 STRING: ENSP00000313007
    HNRNPMP522722, ENSP000003253764MINT-7945693 MINT-8338960 MINT-7947479 STRING: ENSP00000325376
    HNRNPFP525972, ENSP000003384774MINT-7945693 MINT-8338971 MINT-7947479 STRING: ENSP00000338477
    U2AF2P263682, ENSP000003078634MINT-7945693 MINT-8334274 MINT-7947479 STRING: ENSP00000307863
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000381regulation of alternative mRNA splicing, via spliceosome IDA12628928
    GO:0002190cap-independent translational initiation IDA17284590
    GO:0002192IRES-dependent translational initiation IDA17284590
    GO:0006396RNA processing TAS9169144
    GO:0006397mRNA processing IEA--

    RBM4 for ontologies           About GeneDecksing



    (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
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    Browse Tocris compounds for RBM4

    1 HMDB Compound for RBM4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about RBM4

    (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 RBM4 gene (3 alternative transcripts): 
    NM_001198843.1  NM_001198844.1  NM_002896.3  

    Unigene Clusters for RBM4:

    RNA binding motif protein 4
    Hs.523822  [show with all ESTs], Hs.728823  [show with all ESTs]
    Unigene Representative Sequences: NM_001198844, BC021120
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310092(uc001oiw.2 uc001oix.2) ENST00000396053(uc010rpj.2)
    ENST00000408993 ENST00000578778 ENST00000483858(uc001oiv.3) ENST00000398692
    ENST00000510173 ENST00000528039 ENST00000506523 ENST00000530235 ENST00000532968
    ENST00000409406(uc001oiz.2) ENST00000515838 ENST00000514361 ENST00000503028(uc009yrj.3)

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    Additional mRNA sequence: BC021120.1 

    24/46 DOTS entries (see all 46):

    DT.100039090  DT.452823  DT.100805969  DT.91678764  DT.102839121  DT.119628  DT.454900  DT.109989 
    DT.307590  DT.100039092  DT.91945766  DT.91733134  DT.40192713  DT.120685209  DT.70102353  DT.86855659 
    DT.120685147  DT.87016239  DT.100645328  DT.120685062  DT.120685225  DT.95225736  DT.101985355  DT.119624 

    24/1146 AceView cDNA sequences (see all 1146):

    CR610008 AA330657 BP355099 BM757152 BG257575 AI611835 BF868616 BE932279 
    BQ919224 BX356476 AI953276 BP351859 CR612821 BM695878 AA351810 CB142501 
    BQ224226 BP355692 AU134124 AI248945 AA846757 CR622017 BM424116 AK094046 

    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

    RBM4 expression in normal human tissues (normalized intensities)      RBM4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAGTTGCT
    RBM4 Expression
    About this image


    RBM4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See RBM4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBM4

    SOURCE GeneReport for Unigene clusters: Hs.523822 Hs.728823

    UniProtKB/Swiss-Prot: RBM4_HUMAN, Q9BWF3
    Tissue specificity: Expressed in the cerebellum. Expressed in neurons and glial cells, including layers II neurons
    in the frontal cortex and CA1 pyramidal neurons in the hippocampus. Expressed in heart, liver, pancreas, skeletal
    muscle, placenta, primary fibroblasts and peripheral blood monocytes (at protein level). Ubiquitously expressed.
    Highly expressed in heart, placenta and skeletal muscle. Weakly expressed in pancreas, kidney, liver, lung and
    brain

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    In Situ
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    (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 RBM4 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbm41 , 5 RNA binding motif protein 41, 5 94.17(n)1
    97.22(a)1
      19 (4.11 cM)5
    196531  NM_009032.21  NP_033058.21 
     47842935 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    85(a)
    1 → many
    JH375703.1(4929-7849)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    72(a)
    1 → many
    GL343961.1(42871-54220)
    zebrafish
    (Danio rerio)
    Actinopterygii rbm4.16
    rbm4.26
    (see all 4)
    RNA binding motif protein 4.2
    (see all 4)
    44(a)
    43(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    7(23968556-23973894)
    7(23963174-23967956)
    fruit fly
    (Drosophila melanogaster)
    Insecta lark3 circadian rhythm RNA binding 49(a)   3 65F5   --
    worm
    (Caenorhabditis elegans)
    Secernentea rnp-16
    RNA-binding protein rnp-1
    21(a)
    1 → many
    V(12192275-12194445)


    ENSEMBL Gene Tree for RBM4 (if available)
    TreeFam Gene Tree for RBM4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBM4 gene
    RBM4B2  RBM14-RBM42  RBM142  
    10 SIMAP similar genes for RBM4 using alignment to 4 protein entries:     RBM4_HUMAN (see all proteins):
    RBM4B    CELF3    TALDO1    RBM14    CELF1    RBM14-RBM4
    SRSF5    SFRS5    HNRNPD    DAZAP1

    RBM4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RBM4
    PGOHUM00000249289


    (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

    10/321 SNPs in RBM4 are shown (see all 321)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs585327721,2
    C--62759559(+) TGTGT-/GT/GTG
    T
    /GTGTGT
    ATATA
    2 -- int1 cds10--------
    rs1159519461,2
    C,F--66414459(+) GCCTGA/GATGGT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1146960551,2
    F--66414527(+) GACCCA/GACATA 1 -- int11Minor allele frequency- G:0.01WA 118
    rs1889757631,2
    --66414615(+) AGTTAC/TTTGTC 1 -- int10--------
    rs1821068471,2
    C--66414667(+) AGATAC/TAGGAC 1 -- int10--------
    rs112275581,2
    C,H--66414773(+) GGAGAT/GAAAGA 1 -- int16Minor allele frequency- G:0.00NS EA NA 422
    rs1863108111,2
    --66414794(+) TACTTC/TGATAG 1 -- int10--------
    rs4746021,2
    C,F,A,H--66414818(+) TTTTTT/AAAATT 1 -- int110Minor allele frequency- A:0.40NS EA NA WA 772
    rs6245611,2
    C,F,A,H--66414915(-) TTCACA/GTACAA 1 -- int131Minor allele frequency- G:0.37MN NS EA NA WA CSA 3268
    rs1916012991,2
    --66415115(+) TTTGAC/TCTGAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for RBM4 (66384097 - 66435856 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RBM4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv522277CNV Loss19592680
    nsv518919CNV Loss19592680
    nsv897790CNV Loss21882294
    nsv897789CNV Gain21882294
    esv990794OTHER Inversion20482838

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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
    OMIM gene information: 602571    OMIM disorders: --

    4 diseases for RBM4:    About MalaCards
    lipogranulomatosis    farber lipogranulomatosis    down syndrome    neuronitis

    1 disease from the University of Copenhagen DISEASES database for RBM4:
    Farber lipogranulomatosis

    RBM4 for disorders           About GeneDecksing


    Export disorders for RBM4 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 RBM4 gene, integrated from 9 sources (see all 56):
    (articles sorted by number of sources associating them with RBM4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exon selection in alpha-tropomyosin mRNA is regulated by the antagonistic action of RBM4 and PTB. (PubMed id 16260624)1, 2, 3, 9 Lin J.C. and Tarn W.Y. (2005)
    2. A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans. (PubMed id 9169144)1, 2, 3 Jackson F.R.... Rossi E. (1997)
    3. Lark is the splicing factor RBM4 and exhibits unique subnuclear localization properties. (PubMed id 16907643)1, 2, 9 Markus M.A. and Morris B.J. (2006)
    4. Cell stress modulates the function of splicing regulatory protein RBM4 in translation control. (PubMed id 17284590)1, 2, 9 Lin J.C....Tarn W.Y. (2007)
    5. RBM4 interacts with an intronic element and stimulates tau exon 10 inclusion. (PubMed id 16777844)1, 2, 9 Kar A....Wu J.Y. (2006)
    6. A novel splicing regulator shares a nuclear import pathway with SR proteins. (PubMed id 12628928)1, 2, 9 Lai M.-C.... Tarn W.-Y. (2003)
    7. RBM4 down-regulates PTB and antagonizes its activity in muscle cell-specific alternative splicing. (PubMed id 21518792)1, 2 Lin J.C. and Tarn W.Y. (2011)
    8. Rapid and systematic analysis of the RNA recognition specificities of RNA-binding proteins. (PubMed id 19561594)1, 2 Ray D....Hughes T.R. (2009)
    9. RNA-binding motif protein 4 translocates to cytoplasm ic granules and suppresses translation via argonaute2 during muscle cell differ entiation. (PubMed id 19801630)1, 2 Lin J.C. and Tarn W.Y. (2009)
    10. The LARK/RBM4a protein is highly expressed in cerebellum as compared to cerebrum. (PubMed id 18708123)1, 2 Pfuhl T....GrAosser F.A. (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: 5936 HGNC: 9901 AceView: RBM4andRBM14andLOC440048 Ensembl:ENSG00000173933 euGenes: HUgn5936
    ECgene: RBM4 H-InvDB: RBM4

    (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 RBM4 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 RBM4 gene:
    Search GeneIP for patents involving RBM4

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



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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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