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    RAD54B RAD54 homolog B [ Homo sapiens (human) ]

    Gene ID: 25788, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RAD54Bprovided by HGNC
    Official Full Name
    RAD54 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:17228
    See related
    Ensembl:ENSG00000197275 MIM:604289; AllianceGenome:HGNC:17228
    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
    RDH54
    Summary
    The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 1.8), prostate (RPKM 1.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAD54B in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94371960..94475115, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (95496851..95599948, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95384188..95487343, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986896 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:95319922-95321121 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:95353266-95353915 Neighboring gene ribosomal protein S4X pseudogene 10 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:95447028-95447528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19366 Neighboring gene NANOG hESC enhancer GRCh37_chr8:95456748-95457280 Neighboring gene fibrinogen silencer binding protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:95480258-95480884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:95480885-95481510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27631 Neighboring gene vir like m6A methyltransferase associated Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:95546863-95547362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27632 Neighboring gene ribosomal protein L31 pseudogene Neighboring gene VIRMA divergent transcript

    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 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. RAD54B promotes gastric cancer cell migration and angiogenesis via the Wnt/β-catenin pathway. Li J, et al. Radiol Oncol, 2024 Mar 1. PMID 38378037, Free PMC Article
    2. Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer. Hiramoto T, et al. Oncogene, 1999 Jun 3. PMID 10362364
    3. A role for RAD54B in homologous recombination in human cells. Miyagawa K, et al. EMBO J, 2002 Jan 15. PMID 11782437, Free PMC Article
    4. Human Rad54B is a double-stranded DNA-dependent ATPase and has biochemical properties different from its structural homolog in yeast, Tid1/Rdh54. Tanaka K, et al. Nucleic Acids Res, 2002 Mar 15. PMID 11884632, Free PMC Article
    5. Stimulation of Dmc1-mediated DNA strand exchange by the human Rad54B protein. Sarai N, et al. Nucleic Acids Res, 2006. PMID 16945962, Free PMC Article

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RAD54B promotes gastric cancer cell migration and angiogenesis via the Wnt/beta-catenin pathway.
      Title: RAD54B promotes gastric cancer cell migration and angiogenesis via the Wnt/β-catenin pathway.
    2. RNA-sequencing analysis reveals the potential molecular mechanism of RAD54B in the proliferation of inflamed human dental pulp cells.
      Title: RNA-sequencing analysis reveals the potential molecular mechanism of RAD54B in the proliferation of inflamed human dental pulp cells.
    3. RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.
      Title: RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.
    4. Integrated study of miR-215 promoting breast cancer cell apoptosis by targeting RAD54B.
      Title: Integrated study of miR-215 promoting breast cancer cell apoptosis by targeting RAD54B.
    5. RAD54B exerts an oncogenic role in lung cancer cell proliferation.
      Title: Knockdown of RAD54B expression reduces cell proliferation and induces apoptosis in lung cancer cells.
    6. the biological role of RAD54B in the neoplastic process of luminal A breast cancer, is reported.
      Title: RAD54B potentiates tumor growth and predicts poor prognosis of patients with luminal A breast cancer.
    7. Results demonstrate that the patched 1 protein (PTCH1) rs10512248 and DNA repair and recombination protein RAD54B (RAD54B) rs12681366 were significantly associated with non-syndromic orofacial clefts (NSOC) in a Northern Chinese population.
      Title: Association between PTCH1 and RAD54B single-nucleotide polymorphisms and non-syndromic orofacial clefts in a northern Chinese population.
    8. miR-139-3p target genes ISG20L2, RAD54B, KIAA0101, and PIGS were significantly negatively correlated with miR-139-3p expression in patients with hepatocellular carcinoma.
      Title: High miR-139-3p expression predicts a better prognosis for hepatocellular carcinoma: a pooled analysis.
    9. High RAD54B expression is associated with hepatoma.
      Title: Inhibition of RAD54B suppresses proliferation and promotes apoptosis in hepatoma cells.
    10. Review of structural aspects of RAD54B, molecular functions associated with its cellular roles in preventing genome instability, and how aberrant function contributes to oncogenesis.
      Title: The enigmatic oncogene and tumor suppressor-like properties of RAD54B: Insights into genome instability and cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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

    Associated conditions

    Description Tests
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    		not available
    Lymphoma, non-Hodgkin, familial
    MedGen: C4721532 OMIM: 605027 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent chromatin remodeler activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA helicase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA translocase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA translocase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA helicase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic recombination TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DNA repair and recombination protein RAD54B

    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.

    Genomic

    1. NG_012878.2 RefSeqGene

      Range
      4968..108123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001205262.3 → NP_001192191.1  DNA repair and recombination protein RAD54B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several coding exons and uses an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC023632, BC033710, BP872374
      Consensus CDS
      CCDS56546.1
      UniProtKB/TrEMBL
      E5RI14
      Related
      ENSP00000430153.2, ENST00000297592.5

    2. NM_001205263.2 → NP_001192192.1  DNA repair and recombination protein RAD54B isoform 3

      See identical proteins and their annotated locations for NP_001192192.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks 5' several exons but uses an alternate 5' exon, and it thus differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK307516, BC001965, DA553267
      UniProtKB/Swiss-Prot
      Q9Y620
      UniProtKB/TrEMBL
      A0A087X0H2
      Conserved Domains (3) summary
      cd00046
      Location:137 → 278
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam00176
      Location:115 → 414
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:457 → 574
      Helicase_C; Helicase conserved C-terminal domain

    3. NM_012415.3 → NP_036547.1  DNA repair and recombination protein RAD54B isoform 1

      See identical proteins and their annotated locations for NP_036547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC001965, BP872374
      Consensus CDS
      CCDS6262.1
      UniProtKB/Swiss-Prot
      F6WBS8, Q9Y620
      UniProtKB/TrEMBL
      A8K322
      Related
      ENSP00000336606.5, ENST00000336148.10
      Conserved Domains (1) summary
      COG0553
      Location:296 → 815
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      94371960..94475115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      95496851..95599948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006550.1: Suppressed sequence

      Description
      NM_006550.1: This RefSeq was permanently suppressed because there is insufficient support for the transcript and the protein is not supported by current protein homology data.

    2. NM_134434.1: Suppressed sequence

      Description
      NM_134434.1: This RefSeq was permanently suppressed because the transcript and the protein are unsupported.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y620.1 GenPept UniProtKB/Swiss-Prot:Q9Y620

    Gene LinkOut

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

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