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Aliases for RAD54B Gene

Aliases for RAD54B Gene

  • RAD54 Homolog B (S. Cerevisiae) 2 3 5
  • DNA Repair And Recombination Protein RAD54B 3
  • RAD54 Homolog B 4
  • EC 3.6.4.- 4
  • EC 3.6.1 56
  • RDH54 3

External Ids for RAD54B Gene

Previous GeneCards Identifiers for RAD54B Gene

  • GC08M094130
  • GC08M095230
  • GC08M095052
  • GC08M095340
  • GC08M095453
  • GC08M095384
  • GC08M090593

Summaries for RAD54B Gene

Entrez Gene Summary for RAD54B Gene

  • 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]

GeneCards Summary for RAD54B Gene

RAD54B (RAD54 Homolog B (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with RAD54B include Lymphoma, Non-Hodgkin, Familial and Colorectal Cancer. Among its related pathways are Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). Gene Ontology (GO) annotations related to this gene include hydrolase activity and RNA helicase activity. An important paralog of this gene is FSBP.

UniProtKB/Swiss-Prot for RAD54B Gene

  • Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group.

Gene Wiki entry for RAD54B Gene

Additional gene information for RAD54B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAD54B Gene

Genomics for RAD54B Gene

GeneHancer (GH) Regulatory Elements for RAD54B Gene

Promoters and enhancers for RAD54B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I094434 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 561.2 +38.1 38146 5.8 PKNOX1 SIN3A YY1 TCF12 POLR2B REST ATF4 GMEB1 SMARCA4 PBX2 RAD54B FSBP GC08P094436 VIRMA ENSG00000253704 GC08M094432
GH08I094474 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 154 1.8 HDGF PKNOX1 MLX ARID4B SIN3A ZNF2 ZBTB7B POLR2B ZNF766 ZNF213 RAD54B INTS8 VIRMA RBM12B GC08P094456
GH08I094467 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 550.4 +6.9 6929 1.5 JUND ZBTB33 ZNF592 RAD54B VIRMA FSBP GC08P094456
GH08I094552 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 -78.5 -78493 2.9 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 VIRMA GC08M094554 LOC101926977 ENSG00000253704 RAD54B
GH08I093990 Enhancer 1.5 FANTOM5 Ensembl ENCODE 9.3 +483.7 483701 1.8 HDGF PKNOX1 ATF1 NEUROD1 SIN3A ZBTB7B IRF4 BRCA1 GLIS2 ELK1 RAD54B ENSG00000275386 GC08M094039
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAD54B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAD54B gene promoter:

Genomic Locations for RAD54B Gene

Genomic Locations for RAD54B Gene
chr8:94,371,960-94,475,115
(GRCh38/hg38)
Size:
103,156 bases
Orientation:
Minus strand
chr8:95,384,188-95,487,343
(GRCh37/hg19)

Genomic View for RAD54B Gene

Genes around RAD54B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD54B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD54B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAD54B Gene

Proteins for RAD54B Gene

  • Protein details for RAD54B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y620-RA54B_HUMAN
    Recommended name:
    DNA repair and recombination protein RAD54B
    Protein Accession:
    Q9Y620
    Secondary Accessions:
    • F6WBS8

    Protein attributes for RAD54B Gene

    Size:
    910 amino acids
    Molecular mass:
    102967 Da
    Quaternary structure:
    • Interacts with RAD51 through the NH2-terminal domain. Immunoprecipitation experiments show that the interaction is constitutive and not induced by ionizing radiation. The interaction may be indirect.

    Alternative splice isoforms for RAD54B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAD54B Gene

Selected DME Specific Peptides for RAD54B Gene

Q9Y620:
  • GTIEEKI
  • IYRLLTT
  • DEMGLGKT
  • KEFQKWL
  • GGVGLNL
  • MGLGKTL
  • RVWRDGQK

Post-translational modifications for RAD54B Gene

No Post-translational modifications

Other Protein References for RAD54B Gene

Domains & Families for RAD54B Gene

Gene Families for RAD54B Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RAD54B Gene

Suggested Antigen Peptide Sequences for RAD54B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y620

UniProtKB/Swiss-Prot:

RA54B_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with RAD54B: view

Function for RAD54B Gene

Molecular function for RAD54B Gene

GENATLAS Biochemistry:
yeast (S cerevisiae) RAD54 homolog,recombination gene,highly expressed in testis and spleen,homozygously mutated in primary lymphoma and colon cancer
UniProtKB/Swiss-Prot Function:
Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group.

Enzyme Numbers (IUBMB) for RAD54B Gene

Phenotypes From GWAS Catalog for RAD54B Gene

Gene Ontology (GO) - Molecular Function for RAD54B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity TAS 10362364
GO:0003724 RNA helicase activity TAS 10362364
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RAD54B: view
genes like me logo Genes that share phenotypes with RAD54B: view

Human Phenotype Ontology for RAD54B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAD54B Gene

MGI Knock Outs for RAD54B:

miRNA for RAD54B Gene

miRTarBase miRNAs that target RAD54B

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for RAD54B Gene

Localization for RAD54B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD54B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAD54B gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RAD54B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RAD54B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAD54B Gene

Pathways & Interactions for RAD54B Gene

genes like me logo Genes that share pathways with RAD54B: view

Pathways by source for RAD54B Gene

1 BioSystems pathway for RAD54B Gene
1 KEGG pathway for RAD54B Gene

Gene Ontology (GO) - Biological Process for RAD54B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IDA 16428451
GO:0006281 DNA repair IEA --
GO:0006312 mitotic recombination TAS 10362364
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007131 reciprocal meiotic recombination TAS 10362364
genes like me logo Genes that share ontologies with RAD54B: view

No data available for SIGNOR curated interactions for RAD54B Gene

Drugs & Compounds for RAD54B Gene

No Compound Related Data Available

Transcripts for RAD54B Gene

Unigene Clusters for RAD54B Gene

RAD54 homolog B (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAD54B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:

Relevant External Links for RAD54B Gene

GeneLoc Exon Structure for
RAD54B
ECgene alternative splicing isoforms for
RAD54B

Expression for RAD54B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAD54B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAD54B Gene



NURSA nuclear receptor signaling pathways regulating expression of RAD54B Gene:

RAD54B

SOURCE GeneReport for Unigene cluster for RAD54B Gene:

Hs.744229

mRNA Expression by UniProt/SwissProt for RAD54B Gene:

Q9Y620-RA54B_HUMAN
Tissue specificity: Abundantly expressed in testis and spleen. Relatively low levels observed in thymus, prostate, ovary and colon.

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAD54B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • reproductive
  • urinary
Organs:
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with RAD54B: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for RAD54B Gene

Orthologs for RAD54B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAD54B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAD54B 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia RAD54B 33 34
  • 89.66 (n)
cow
(Bos Taurus)
Mammalia RAD54B 33 34
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Rad54b 33 16 34
  • 83.07 (n)
rat
(Rattus norvegicus)
Mammalia Rad54b 33
  • 81.35 (n)
oppossum
(Monodelphis domestica)
Mammalia RAD54B 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAD54B 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAD54B 33 34
  • 72.2 (n)
lizard
(Anolis carolinensis)
Reptilia RAD54B 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rad54b 33
  • 65.83 (n)
Str.5565 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32066 33
zebrafish
(Danio rerio)
Actinopterygii rad54b 33 34
  • 57.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006945 33
  • 48.5 (n)
worm
(Caenorhabditis elegans)
Secernentea Y116A8C.13 35
  • 41 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F11814g 33
  • 55.53 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RDH54 33 36
  • 49.37 (n)
RAD54 34
  • 33 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL212W 33
  • 48.74 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rdh54 33
  • 49.9 (n)
Species where no ortholog for RAD54B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAD54B Gene

ENSEMBL:
Gene Tree for RAD54B (if available)
TreeFam:
Gene Tree for RAD54B (if available)

Paralogs for RAD54B Gene

Paralogs for RAD54B Gene

(2) SIMAP similar genes for RAD54B Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with RAD54B: view

Variants for RAD54B Gene

Sequence variations from dbSNP and Humsavar for RAD54B Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs114216685 pathogenic, Malignant lymphoma, non-Hodgkin, A non-Hodgkin lymphoma sample 94,391,640(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs119490107 pathogenic, Carcinoma of colon, A colon cancer sample 94,399,540(-) C/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000017168 -- 94,466,444(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000057469 -- 94,419,438(-) G/T genic_downstream_transcript_variant, intron_variant
rs1000068116 -- 94,466,698(-) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RAD54B Gene

Variant ID Type Subtype PubMed ID
dgv2104e212 CNV loss 25503493
dgv2105e212 CNV loss 25503493
esv3572904 CNV loss 25503493
esv3572905 CNV loss 25503493
esv3572908 CNV loss 25503493
esv3618077 CNV loss 21293372
nsv1031480 CNV gain 25217958
nsv611749 CNV loss 21841781
nsv6313 CNV insertion 18451855
nsv831401 CNV loss 17160897

Variation tolerance for RAD54B Gene

Residual Variation Intolerance Score: 68.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAD54B Gene

Human Gene Mutation Database (HGMD)
RAD54B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAD54B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD54B Gene

Disorders for RAD54B Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAD54B Gene - From: OMIM, ClinVar, and DISEASES

Disorder Aliases PubMed IDs
lymphoma, non-hodgkin, familial
  • non-hodgkin lymphoma; nhl
colorectal cancer
  • crc
colonic benign neoplasm
  • colon neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RAD54B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAD54B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAD54B Gene

Publications for RAD54B Gene

  1. A novel human rad54 homologue, Rad54B, associates with Rad51. (PMID: 10851248) Tanaka K … Miyagawa K (The Journal of biological chemistry 2000) 2 3 4 22 58
  2. Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer. (PMID: 10362364) Hiramoto T … Kamiya K (Oncogene 1999) 2 3 4 22 58
  3. Human Rad54B is a double-stranded DNA-dependent ATPase and has biochemical properties different from its structural homolog in yeast, Tid1/Rdh54. (PMID: 11884632) Tanaka K … Miyagawa K (Nucleic acids research 2002) 3 4 22 58
  4. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs FB … International Multiple Sclerosis Genetics Consortium (American journal of epidemiology 2010) 3 44 58
  5. Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. (PMID: 20610542) Liu Y … Bondy ML (Carcinogenesis 2010) 3 44 58

Products for RAD54B Gene

Sources for RAD54B Gene

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