RAD54B (RAD54 homolog B)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 25788
Gene name RAD54 homolog B
Gene symbol RAD54B
Synonyms (NCBI Gene)
RDH54
Chromosome 8
Chromosome location 8q22.1
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-stra
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs114216685 T>C Benign, pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs119490107 C>A Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
37
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (37)
miRTarBase ID miRNA Experiments Reference
MIRT024274 hsa-miR-215-5p Microarray 19074876
MIRT024274 hsa-miR-215-5p Microarray 19074876
MIRT024274 hsa-miR-215-5p Microarray 19074876
MIRT026800 hsa-miR-192-5p Microarray 19074876
MIRT042701 hsa-miR-346 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IDA 16428451
GO:0000724 Process Double-strand break repair via homologous recombination IEA
GO:0000724 Process Double-strand break repair via homologous recombination IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604289 17228 ENSG00000197275
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y620
Protein name DNA repair and recombination protein RAD54B (EC 3.6.4.-) (RAD54 homolog B)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00176 SNF2_N 310 → 598 SNF2 family N-terminal domain Family
PF00271 Helicase_C 642 → 758 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in testis and spleen. Relatively low levels observed in thymus, prostate, ovary and colon. {ECO:0000269|PubMed:10362364}.
Sequence 
MRRSAAPSQLQGNSFKKPKFIPPGRSNPGLNEEITKLNPDIKLFEGVAINNTFLPSQNDL
RICSLNLPSEESTREINNRDNCSGKYCFEAPTLATLDPPHTVHSAPKEVAVSKEQEEKSD
SLVKYFSVVWCKPSKKKHKKWEGDAVLIVKGKSFILKNLEGKDIGRGIGYKFKELEKIEE
GQTLMICGKEIEVMGVISPDDFSSGRCFQLGGGSTAISHSSQVARKCFSNPFKSVCKPSS
KENRQNDFQNCKPRHDPYTPNSLVMPRPDKNHQWVFNKNCFPLVDVVIDPYLVYHLRPHQ
KEGIIFLYECVMGMRMNGRCGAILADEMGLGKTLQCISLIWTLQCQGPYGGKPVIKKTLI
VTPGSLVNNWKKEFQKWLGSERIKIFTVDQDHKVEEFIKSIFYSVLIISYEMLLRSLDQI
KNIKFDLLICDEGHRLKNSAIKTTTALISLSCEKRIILTGTPIQNDLQEFFALIDFVNPG
ILGSLSSYRKIYEEPIILSREPSASEEEKELGERRAAELTCLTGLFILRRTQEIINKYLP
PKIENVVFCRPGALQIELYRKLLNSQVVRFCLQGLLENSPHLICIGALKKLCNHPCLLFN
SIKEKECSSTCDKNEEKSLYKGLLSVFPADYNPLLFTEKESGKLQVLSKLLAVIHELRPT
EKVVLVSNYTQTLNILQEVCKRHGYAYTRLDGQTPISQRQQIVDGFNSQHSSFFIFLLSS
KAGGVGLNLIGGSHLILYDIDWNPATDIQAMSRVWRDGQKYPVHIYRLLTTGTIEEKIYQ
RQISKQGLCGAVVDLTKTSEHIQFSVEELKNLFTLHESSDCVTHDLLDCECTGEEVHTGD
SLEKFIVSRDCQLGPHHQKSNSLKPLSMSQLKQWKHFSGDHLNLTDPFLERITENVSFIF
QNITTQATGT
Sequence length 910
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Homologous recombination  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Carcinoma of colon Pathogenic rs119490107 RCV000005993
Show/Hide Unknown Diseases (17)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs28910279 RCV005917211
Adrenocortical carcinoma, hereditary Benign rs28910279 RCV005917215
Colorectal cancer Benign rs28910279 RCV005917218
Gastric cancer Benign rs2450560, rs28910279 RCV005917932
RCV005917220
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 26431531, 27655641
Alzheimer Disease Associate 37162726
Breast Neoplasms Associate 35655723, 35847584
Carcinoma Hepatocellular Associate 29956808, 30394818, 35847584, 37923899
Cholangiocarcinoma Associate 35847584
Chromosomal Instability Associate 19218431
Colorectal Neoplasms Associate 11782437, 19218431, 24002644, 26046797, 27902462
Esophageal Squamous Cell Carcinoma Associate 23504502
Leukemia Myelogenous Chronic BCR ABL Positive Associate 40344211
Lung Neoplasms Associate 31558081