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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
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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
Compare labs
Lymphoma, non-Hodgkin, familial
MedGen: C4721532 OMIM: 605027 GeneReviews: Not available
Compare labs

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

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