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

RBM8A Gene

protein-coding   GIFtS: 62
GCID: GC01P145507

RNA Binding Motif Protein 8A


(Previous symbol: RBM8)
  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 8A1 2     C1DELq21.12
RBM81 2 3     DEL1q21.12
Binder Of OVCA1-12 3     MDS0142
Ribonucleoprotein RBM8A2 3     TAR2
BOV-12 3     Y142
RNA-Binding Motif Protein 8A2 3     ZNRP2
RNA-Binding Protein Y142 3     ZRNP12
RBM8B2 5     Ribonucleoprotein RBM82
BOV-1A2     RNA Binding Motif Protein 8B2
BOV-1B2     RNA-Binding Protein 8A2
BOV-1C2     

External Ids:    HGNC: 99051   Entrez Gene: 99392   Ensembl: ENSG000001317957   OMIM: 6053135   UniProtKB: Q9Y5S93   

Export aliases for RBM8A gene to outside databases

Previous GC identifers: GC01P144028 GC01P142094 GC01P143234 GC01P143256 GC01P142996 GC01P144218 GC01P119471


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

Entrez Gene summary for RBM8A Gene:
This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus,
although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing,
including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains
associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and
post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is
now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this
gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding
single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. (provided
by RefSeq, Jul 2013)

GeneCards Summary for RBM8A Gene: 
RBM8A (RNA binding motif protein 8A) is a protein-coding gene. Diseases associated with RBM8A include thrombocytopenia-absent radius syndrome, and developmental coordination disorder, and among its related super-pathways are mRNA Processing and Post-Elongation Processing of Intron-Containing pre-mRNA. GO annotations related to this gene include mRNA binding and RNA binding.

UniProtKB/Swiss-Prot: RBM8A_HUMAN, Q9Y5S9
Function: Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction
on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear
and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during
subsequent mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages
of mRNA metabolism, functions to mark the position of the exon-exon junction in the mature mRNA and thereby
influences downstream processes of gene expression including mRNA splicing, nuclear mRNA export, subcellular mRNA
localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The heterodimer MAGOH-RBM8A
interacts with PYM that function to enhance the translation of EJC-bearing spliced mRNAs by recruiting them to
the ribosomal 48S preinitiation complex. Remains associated with mRNAs in the cytoplasm until the mRNAs engage
the translation machinery. Its removal from cytoplasmic mRNAs requires translation initiation from EJC-bearing
spliced mRNAs. Associates preferentially with mRNAs produced by splicing. Does not interact with pre-mRNAs,
introns, or mRNAs produced from intronless cDNAs. Associates with both nuclear mRNAs and newly exported
cytoplasmic mRNAs. Complex with MAGOH is a component of the nonsense mediated decay (NMD) pathway

Gene Wiki entry for RBM8A 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_000001.10  NT_167185.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBM8A gene promoter:
         HOXA3   AML1a   HNF-1A   C/EBPalpha   GATA-2   FAC1   HSF2   HNF-1   Sox9   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBM8A promoter sequence
   Search SABiosciences Chromatin IP Primers for RBM8A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBM8A


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

Entrez Gene cytogenetic band: 1q21.1   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21.1

RBM8A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBM8A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P145507:  view genomic region     (about GC identifiers)

Start:
145,507,557 bp from pter      End:
145,513,536 bp from pter
Size:
5,980 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: RBM8A_HUMAN, Q9Y5S9 (See protein sequence)
Recommended Name: RNA-binding protein 8A  
Size: 174 amino acids; 19889 Da
Subunit: Heterodimer with MAGOH. Part of the exon junction complex (EJC) core complex that contains CASC3, EIF4A3,
MAGOH and RBM8A. Found in a mRNA splicing-dependent EJC, at least composed of ACIN1, CASC3, DEK, EIF4A3, MAGOH,
NCBP1, NCBP2, PNN, NXF1, RBM8A, UPF2, UPF3A, UPF3B, RNPS1, SAP18, SRRM1 and ALYREF/THOC4. Found in a
post-splicing complex with NXF1, RBM8A, UPF1, UPF2, UPF3A, UPF3B and RNPS1. Interacts with BAT1, MAGOH, OVCA1,
UPF3B, RNPS1, SRRM1 and ALYREF/THOC4. Identified in the spliceosome C complex. Interacts with WIBG/PYM; the
interaction is direct and leads to dissociate the EJC from spliced mRNAs. Associates with polysomes
Subcellular location: Nucleus. Nucleus speckle. Cytoplasm. Note=Nucleocytoplasmic shuttling protein. Travels to
the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. Colocalizes with the core EJC,
ALYREF/THOC4, NXF1 and UAP56 in the nucleus and nuclear speckles
Sequence caution: Sequence=AAG14951.1; Type=Erroneous initiation; Sequence=AAG16782.1; Type=Erroneous initiation;
Sequence=AAG16782.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. A chimeric cDNA originating from
chromosomes 1 and 5;
6 PDB 3D structures from and Proteopedia for RBM8A:
1P27 (3D)        2HYI (3D)        2J0Q (3D)        2J0S (3D)        2XB2 (3D)        3EX7 (3D)    
Secondary accessions: B3KQI9 Q6FHD1 Q6IQ40 Q9GZX8 Q9NZI4
Alternative splicing: 2 isoforms:  Q9Y5S9-1   Q9Y5S9-2   

Explore the universe of human proteins at neXtProt for RBM8A: NX_Q9Y5S9

Explore proteomics data for RBM8A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y5S9

  • RBM8A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RBM8A Protein Expression
    REFSEQ proteins: NP_005096.1  
    ENSEMBL proteins: 
     ENSP00000333001   ENSP00000358313  
    Reactome Protein details: Q9Y5S9
    Human Recombinant Protein Products for RBM8A: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for RBM8A
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11013075
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm NAS11030346
    GO:0005829cytosol TAS--

    RBM8A for ontologies           About GeneDecksing



    RBM8A Antibody Products: 
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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: 
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR008111 RNA-bd_8
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y5S9

    ProtoNet protein and cluster: Q9Y5S9

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB008111 RNA binding motif protein 8 family signature


    UniProtKB/Swiss-Prot: RBM8A_HUMAN, Q9Y5S9
    Similarity: Belongs to the RBM8A family
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    RBM8A 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: RBM8A_HUMAN, Q9Y5S9
    Function: Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction
    on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear
    and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during
    subsequent mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages
    of mRNA metabolism, functions to mark the position of the exon-exon junction in the mature mRNA and thereby
    influences downstream processes of gene expression including mRNA splicing, nuclear mRNA export, subcellular mRNA
    localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The heterodimer MAGOH-RBM8A
    interacts with PYM that function to enhance the translation of EJC-bearing spliced mRNAs by recruiting them to
    the ribosomal 48S preinitiation complex. Remains associated with mRNAs in the cytoplasm until the mRNAs engage
    the translation machinery. Its removal from cytoplasmic mRNAs requires translation initiation from EJC-bearing
    spliced mRNAs. Associates preferentially with mRNAs produced by splicing. Does not interact with pre-mRNAs,
    introns, or mRNAs produced from intronless cDNAs. Associates with both nuclear mRNAs and newly exported
    cytoplasmic mRNAs. Complex with MAGOH is a component of the nonsense mediated decay (NMD) pathway

         Gene Ontology (GO): 5 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 NAS11013075
    GO:0003729mRNA binding NAS11030346
    GO:0005515protein binding IPI10662555
         
    RBM8A for ontologies           About GeneDecksing


    Phenotypes:
         8 GenomeRNAi human phenotypes for RBM8A:
     Abundance of large cells with   Cell cycle / mitosis defect  Decreased cell number  Decreased viability of wild-ty 
     Increased gamma-H2AX phosphory  Increased number of cells in m  Increased number of mitotic ce  Synthetic lethal with Ras 

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBM8A 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidRBM8A 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

    SuperPaths for RBM8A About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA Splicing0.82
    mRNA Processing0.85
    Spliceosome0.31
    mRNA Splicing - Major Pathway0.82
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.79
    Post-Elongation Processing of the Transcript0.79
    Post-Elongation Processing of Intron-Containing pre-mRNA0.79
    mRNA 3'-end processing0.79
    Cleavage of Growing Transcript in the Termination Region 0.79
    3Metabolism of mRNA
    Metabolism of mRNA0.92
    Metabolism of RNA0.92
    4Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.85
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.85
    5Viral mRNA Translation
    Nonsense-Mediated Decay0.84
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/18        Reactome Pathways for RBM8A (see all 18)
        Transport of Mature mRNA derived from an Intron-Containing Transcript
    Nonsense-Mediated Decay
    Transport of Mature Transcript to Cytoplasm
    mRNA Splicing
    RNA Polymerase II Transcription


    3         Kegg Pathways  (Kegg details for RBM8A):
        RNA transport
    mRNA surveillance pathway
    Spliceosome


    RBM8A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBM8A

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

    5/210 Interacting proteins for RBM8A (Q9Y5S91, 2, 3 ENSP000003330014) via UniProtKB, MINT, STRING, and/or I2D (see all 210)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF3BQ9BZI71, 2, 3, ENSP000002762014EBI-447231,EBI-372780 MINT-18282 I2D: score=3 STRING: ENSP00000276201
    MAGOHBQ96A722, 3, ENSP000003192404MINT-68487 I2D: score=10 STRING: ENSP00000319240
    MAGOHP613261, 2, 3, ENSP000003605254EBI-447231,EBI-299134 MINT-8337860 I2D: score=5 STRING: ENSP00000360525
    EIF4A3P389191, 3, ENSP000002693494EBI-447231,EBI-299104 I2D: score=3 STRING: ENSP00000269349
    UPF3AQ9H1J11, 3, ENSP000003644484EBI-447231,EBI-521530 I2D: score=4 STRING: ENSP00000364448
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006406mRNA export from nucleus TAS--

    RBM8A 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

    RBM8A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBM8A

    3 Novoseek inferred chemical compound relationships for RBM8A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gnrh 19.8 1 12538601 (1)
    atp 7.2 2 16170325 (1), 16923391 (1)
    arginine 5.39 3 16100109 (2)

    Search CenterWatch for drugs/clinical trials and news about RBM8A

    (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,
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    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 RBM8A gene: 
    NM_005105.4  

    Unigene Cluster for RBM8A:

    RNA binding motif protein 8A
    Hs.591455  [show with all ESTs]
    Unigene Representative Sequence: NM_005105
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484825 ENST00000498663 ENST00000330165(uc001ent.2 uc001enu.2)
    ENST00000369307
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    Additional mRNA sequence: 

    AF127761.1 AF161463.1 AF182415.1 AF198620.1 AF231511.1 AF299118.1 AK075009.1 AL049219.1 
    BC017088.2 BC017770.1 CR541805.1 CR541823.1 

    24/28 DOTS entries (see all 28):

    DT.86854958  DT.447841  DT.95161012  DT.95161011  DT.92397337  DT.121360222  DT.95340151  DT.95340149 
    DT.100709242  DT.100830866  DT.91777441  DT.95161010  DT.120782765  DT.120782768  DT.91777447  DT.121360291 
    DT.95340152  DT.100806360  DT.121360202  DT.121360256  DT.121360263  DT.121360282  DT.121360285  DT.40114765 

    24/710 AceView cDNA sequences (see all 710):

    AA302214 AA443427 AA035259 AF161463 BQ897888 BQ374200 CB240890 BM820726 
    BQ690374 BM696053 BQ686334 NM_005105 BU782901 CK822439 CF129241 AI570893 
    BU857296 BP354213 BU554062 Z40800 AA401233 BE251515 CF129472 AI246134 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for RBM8A (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e ^ 7
    SP1:                          -                 -                                         -     -     -         
    SP2:                          -                 -                                                               
    SP3:                          -                 -                                                               
    SP4:                          -                 -                       -                                       
    SP5:                          -                 -                                                               


    ECgene alternative splicing isoforms for RBM8A

    (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

    RBM8A expression in normal human tissues (normalized intensities)      RBM8A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCCTTGGA
    RBM8A Expression
    About this image


    RBM8A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See RBM8A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBM8A

    SOURCE GeneReport for Unigene cluster: Hs.591455

    UniProtKB/Swiss-Prot: RBM8A_HUMAN, Q9Y5S9
    Tissue specificity: Ubiquitous

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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 eukaryotes.

    Orthologs for RBM8A gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbm8a1 , 5 RNA binding motif protein 8a1, 5 89.85(n)1
    100(a)1
      3 (41.93 cM)5
    603651  NM_001102407.11  NP_001095877.11 
     966299285 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685912 hypothetical protein MGC68591 75.52(n)    BC056659.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rbm8a1 RNA binding motif protein 8A 75.48(n)
    93.68(a)
      503767  NM_001013345.1  NP_001013363.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tsu1 , 3 regulation of pole plasm oskar mRNA
    localization RNA binding less3
    tsunagi1
    61(a)3
    63.99(n)1
    65.43(a)1
      45A73
    359241  NM_136610.21  NP_610454.21 
    worm
    (Caenorhabditis elegans)
    Secernentea rnp-41 Protein RNP-4 58.21(n)
    58.7(a)
      175572  NM_065490.3  NP_497891.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RNA156
    Component of the cleavage and polyadenylation fact...
    5(a)
    1 → many
    VII(416146-417036)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons Y141 RNA-binding protein 8A 57.75(n)
    58.45(a)
      841576  NM_104029.3  NP_564591.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01405001 hypothetical protein 58.85(n)
    58.02(a)
      4337757  NM_001061133.2  NP_001054598.2 


    ENSEMBL Gene Tree for RBM8A (if available)
    TreeFam Gene Tree for RBM8A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/119 SNPs in RBM8A are shown (see all 119)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs716640971,2
    --119474683(+) CTACCC/TACCTA 1 -- ut311Minor allele frequency- T:0.50NA 2
    rs1906270941,2
    --152397412(-) AATATA/GATGCT 1 -- ut310--------
    rs716640961,2
    C,F--152397629(-) TGGACC/G/TGTGTG 2 -- ut311NA 2
    rs1878312501,2
    --152397646(-) GGACTC/GGGCCA 1 -- ut310--------
    rs1431204451,2
    --152397775(-) CAATGC/TGGCTA 1 -- ut310--------
    rs1470384281,2
    C--152398174(-) AGCTCA/GCCTCC 1 -- ut310--------
    rs1441127861,2
    --152398190(-) ATAGCC/TAGTGA 1 -- ut310--------
    rs1392177401,2
    --152398919(-) TGCCCA/GGCTAA 1 -- ut310--------
    rs1139890261,2
    F--152399230(-) TTACCG/CTATAT 1 -- ut311Minor allele frequency- C:0.50CSA 2
    rs557810031,2
    C,F--152399231(+) TATACG/AGTAAG 1 -- ut312Minor allele frequency- A:0.02CSA WA 120

    HapMap Linkage Disequilibrium report for RBM8A (145507557 - 145513536 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RBM8A:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv15n16CNV Deletion17901297
    dgv46e201CNV Deletion23290073
    esv2422428CNV Duplication17116639
    nsv2710CNV Insertion18451855
    dgv346n71CNV Gain21882294
    dgv347n71CNV Gain21882294
    nsv831381CNV Gain17160897
    nsv831370CNV Gain17160897
    dgv105e1CNV Complex17122850
    nsv7181OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): RBM8A
    SABiosciences Cancer Mutation PCR Assays
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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: 605313    OMIM disorders: --

    5 diseases for RBM8A:    About MalaCards
    thrombocytopenia-absent radius syndrome    developmental coordination disorder    thrombocytopenia    colon adenocarcinoma
    adenocarcinoma

    1 disease from the University of Copenhagen DISEASES database for RBM8A:
    Developmental coordination disorder

    RBM8A for disorders           About GeneDecksing


    Export disorders for RBM8A 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 RBM8A gene, integrated from 9 sources (see all 96):
    (articles sorted by number of sources associating them with RBM8A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor. (PubMed id 11013075)1, 2, 3 Salicioni A.M....Godwin A.K. (2000)
    2. Cloning and gene expression of a novel human ribonucleoprotein. (PubMed id 11004516)1, 2, 3 Conklin D.C....Millar R.P. (2000)
    3. Y14 and hUpf3b form an NMD-activating complex. (PubMed id 12718880)1, 2, 9 Gehring N.H.... Kulozik A.E. (2003)
    4. MAGOH interacts with a novel RNA-binding protein. (PubMed id 10662555)1, 2, 9 Zhao X.F.... Aplan P.D. (2000)
    5. Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA- binding protein that persists in the cytoplasm. (PubMed id 11030346)1, 2, 9 Kataoka N....Dreyfuss G. (2000)
    6. Structure of the Y14-Magoh core of the exon junction complex. (PubMed id 12781131)1, 2, 9 Lau C.K.... Van Duyne G.D. (2003)
    7. The genes encoding the type II gonadotropin-releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci. (PubMed id 11707068)1, 2, 9 Faurholm B.... Katz A.A. (2001)
    8. PYM binds the cytoplasmic exon-junction complex and ribosomes to enhance translation of spliced mRNAs. (PubMed id 18026120)1, 2, 9 Diem M.D.... Dreyfuss G. (2007)
    9. The exon junction core complex is locked onto RNA by inhibition of eIF4AIII ATPase activity. (PubMed id 16170325)1, 2, 9 Ballut L....Le Hir H. (2005)
    10. Magoh, a human homolog of Drosophila mago nashi protein, is a component of the splicing-dependent exon-exon junction complex. (PubMed id 11707413)1, 2, 9 Kataoka N.... Dreyfuss G. (2001)

    (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: 9939 HGNC: 9905 AceView: PEX11BandRBM8A Ensembl:ENSG00000131795 euGenes: HUgn9939
    ECgene: RBM8A Kegg: 9939 H-InvDB: RBM8A

    (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 RBM8A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBM8A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RBM8A gene:
    Search GeneIP for patents involving RBM8A

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



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