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    RBM22 RNA binding motif protein 22 [ Homo sapiens (human) ]

    Gene ID: 55696, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RBM22provided by HGNC
    Official Full Name
    RNA binding motif protein 22provided by HGNC
    Primary source
    HGNC:HGNC:25503
    See related
    Ensembl:ENSG00000086589 MIM:612430; AllianceGenome:HGNC:25503
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Cwc2; ZC3H16; fSAP47
    Summary
    This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in bone marrow (RPKM 24.5), lymph node (RPKM 14.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM22 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150690792..150701062, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151227305..151237571, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150070354..150080624, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene synaptopodin Neighboring gene uncharacterized LOC124901107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23423 Neighboring gene Sharpr-MPRA regulatory region 14746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150003601-150004100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150005713-150006428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150006429-150007142 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:150019904-150021103 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:150024358-150024596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150031179-150031680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16516 Neighboring gene MYOZ3 antisense RNA 1 Neighboring gene myozenin 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150079866-150080642 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150080643-150081419 Neighboring gene dynactin subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23428 Neighboring gene uncharacterized LOC124901110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16517 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150158841-150159702 Neighboring gene small integral membrane protein 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Tumor suppressor role of RBM22 in prostate cancer acting as a dual-factor regulating alternative splicing and transcription of key oncogenic genes. Jiménez-Vacas JM, et al. Transl Res, 2023 Mar. PMID 36089245
    2. Protein composition of human prespliceosomes isolated by a tobramycin affinity-selection method. Hartmuth K, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477934, Free PMC Article
    3. The influence of calcium signaling on the regulation of alternative splicing. Krebs J. Biochim Biophys Acta, 2009 Jun. PMID 19133299
    4. Transcriptional map of the Treacher Collins candidate gene region. Loftus SK, et al. Genome Res, 1996 Jan. PMID 8681136
    5. RBM22 regulates RNA polymerase II 5' pausing, elongation rate, and termination by coordinating 7SK-P-TEFb complex and SPT5. Du X, et al. Genome Biol, 2024 Apr 19. PMID 38641822, Free PMC Article

    See all (102) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RBM22 regulates RNA polymerase II 5' pausing, elongation rate, and termination by coordinating 7SK-P-TEFb complex and SPT5.
      Title: RBM22 regulates RNA polymerase II 5' pausing, elongation rate, and termination by coordinating 7SK-P-TEFb complex and SPT5.
    2. Tumor suppressor role of RBM22 in prostate cancer acting as a dual-factor regulating alternative splicing and transcription of key oncogenic genes.
      Title: Tumor suppressor role of RBM22 in prostate cancer acting as a dual-factor regulating alternative splicing and transcription of key oncogenic genes.
    3. Cwc2/RBM22-RNA contacts are functionally important.
      Title: Cwc2 and its human homologue RBM22 promote an active conformation of the spliceosome catalytic centre.
    4. ALG-2 alone evenly distributed within the cell, whereas in the presence of RBM22 the two proteins co-localized within the nucleus.
      Title: Nuclear translocation of the calcium-binding protein ALG-2 induced by the RNA-binding protein RBM22.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10290

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables U6 snRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables U6 snRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pre-mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pre-mRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA cis splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in positive regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Prp19 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type catalytic step 1 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pre-mRNA-splicing factor RBM22
    Names
    functional spliceosome-associated protein 47
    zinc finger CCCH domain-containing protein 16

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018047.3 → NP_060517.1  pre-mRNA-splicing factor RBM22

      See identical proteins and their annotated locations for NP_060517.1

      Status: REVIEWED

      Source sequence(s)
      BC003402, DA534416, N23415
      Consensus CDS
      CCDS34278.1
      UniProtKB/Swiss-Prot
      A6NDM5, B4DLI9, O95607, Q9NW64
      Related
      ENSP00000199814.4, ENST00000199814.9
      Conserved Domains (2) summary
      smart00356
      Location:159 → 185
      ZnF_C3H1; zinc finger
      cd12224
      Location:231 → 304
      RRM_RBM22; RNA recognition motif (RRM) found in Pre-mRNA-splicing factor RBM22 and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      150690792..150701062 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      151227305..151237571 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NW64.1 GenPept UniProtKB/Swiss-Prot:Q9NW64

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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