Aliases for RAD54B Gene
Aliases for RAD54B Gene
External Ids for RAD54B Gene
- HGNC: 17228
- Entrez Gene: 25788
- Ensembl: ENSG00000197275
- OMIM: 604289
- UniProtKB: Q9Y620
Previous GeneCards Identifiers for RAD54B Gene
- GC08M094130
- GC08M095230
- GC08M095052
- GC08M095340
- GC08M095453
- GC08M095384
- GC08M090593
Summaries 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.
Additional gene information for RAD54B Gene
- Monarch Initiative
- Search for RAD54B at DataMed
- Search for RAD54B at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around RAD54B on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 8q22.1 by Ensembl
- 8q22.1 by Entrez Gene
- 8q22.1 by HGNC
RAD54B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RAD54B
-
Abcam antibodies for RAD54B
- Invitrogen Antibodies for RAD54B
- GeneTex RAD54B antibody for RAD54B
-
Santa Cruz Biotechnology (SCBT) Antibodies for RAD54B
- Sino Biological Antibodies for RAD54B
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RAD54B
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- antibodies-online: Search results for 4 available RAD54B Proteins ranked by validation data
- Compare Top RAD54B Proteins
-
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Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RAD54B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y620- Family:
-
- Belongs to the SNF2/RAD54 helicase family.
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
| 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 |
Phenotypes for RAD54B Gene
- MGI mutant phenotypes for RAD54B:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RAD54B:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased ionizing radiation sensitivity
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Upregulation of Wnt pathway
Animal Models for RAD54B Gene
- MGI Knock Outs for RAD54B:
-
- Rad54b tm1Roka
Animal Model Products
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-
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CRISPR Products
-
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-
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-
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miRNA for RAD54B Gene
- miRTarBase miRNAs that target RAD54B
miRNA Products
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Inhibitory RNA Products
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Clone Products
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- Addgene plasmids for RAD54B
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-
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Cell Line Products
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-
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-
ViGene Biosciences lentiviral particle packaged cDNA for RAD54B gene
-
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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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAD54B Gene
Pathways & Interactions for RAD54B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | ||
Pathways by source for RAD54B Gene
1 BioSystems pathway for RAD54B Gene
1 KEGG pathway for RAD54B Gene
Interacting Proteins for RAD54B Gene
Selected Interacting proteins:
ENSP00000336606
Q9Y620-RA54B_HUMAN
for RAD54B Gene via
STRING
IID
UniProtKB
| 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 |
No data available for SIGNOR curated interactions for RAD54B Gene
Transcripts for RAD54B Gene
mRNA/cDNA for RAD54B Gene
- (5) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (70) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RAD54B Gene
- RAD54 homolog B (S. cerevisiae):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for RAD54B
- genomics-online: gRNA clones - Search results for available RAD54B gene related products
- Applied Biological Materials CRISPR for RAD54B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAD54B
- GenScript: Design CRISPR guide RNA sequences for RAD54B
miRNA Products
- Search ViGene Biosciences for RAD54B
Inhibitory RNA Products
- Origene shrna, RNAi, and sirna products in human, mouse, rat for RAD54B
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-
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Clone Products
- Sino Biological Human cDNA Clone for RAD54B
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for RAD54B
- genomics-online: cdna clones - Search results for available RAD54B gene related products
- orf clones - Search results for available RAD54B gene related products
- Applied Biological Materials Clones for RAD54B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for RAD54B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Adult Endothelial Cells Blood Brain Barrier
- Hypothalamus
- Pituitary Gland
- Thalamus
- Striatum
- Neural Tube (Nervous System)
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
-
Gonad
- XY Germ Cells Testis Cord
-
Endothelium (Cardiovascular System)
- Adult Endothelial Cells Blood Brain Barrier
- Kidney (Urinary System)
- Thymus (Hematopoietic System)
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:
RAD54BSOURCE GeneReport for Unigene cluster for RAD54B Gene:
Hs.744229mRNA 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
Primer Products
-
OriGene qPCR primer pairs and template standards for RAD54B
-
OriGene qPCR primer pairs for RAD54B
- genomics-online: primer clones - Search results for available RAD54B gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RAD54B 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | RAD54B 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | RAD54B 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Rad54b 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rad54b 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RAD54B 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RAD54B 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RAD54B 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | RAD54B 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rad54b 33 |
|
||
| Str.5565 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32066 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rad54b 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006945 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y116A8C.13 35 |
|
|
|
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F11814g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RDH54 33 36 |
|
||
| RAD54 34 |
|
OneToMany | |||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGL212W 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rdh54 33 |
|
- 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)
Paralogs for RAD54B Gene
(2) SIMAP similar genes for RAD54B Gene using alignment to 4 proteins:
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD54B Gene
Disorders for RAD54B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lymphoma, non-hodgkin, familial |
|
|
| colorectal cancer |
|
|
| colonic benign neoplasm |
|
|
Search RAD54B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RAD54B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for RAD54B Gene
Publications for RAD54B Gene
- 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
- Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer. (PMID: 10362364) Hiramoto T … Kamiya K (Oncogene 1999) 2 3 4 22 58
- 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
- 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
- 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
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- antibodies-online: Search results for 61 available RAD54B Antibodies ranked by validation data
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- ViGene Biosciences adenoviral particle packaged cDNA for RAD54B gene
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Sources for RAD54B Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
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