RAD54B - RAD54 homolog B Gene

Also Known as RDH54

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25788

About RAD54B

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:94,371,960-94,475,115 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 30 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 1.8), prostate (RPKM 1.3) and 25 other tissues.

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]

RAD54B Products (3)

mRNA Protein Name
NM_001205262.3 NP_001192191.1 DNA repair and recombination protein RAD54B isoform 2
NM_001205263.2 NP_001192192.1 DNA repair and recombination protein RAD54B isoform 3
NM_012415.3 NP_036547.1 DNA repair and recombination protein RAD54B isoform 1
Molecular Function GO Annotation Evidence References Source
enables DNA translocase activity IDA
IDA: Inferred from direct assay
16428451 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
16428451 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAD54B Protein Structure

SNF2_N

SNF2_N: SNF2 family N-terminal domain (299 - 597)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (680 - 758)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 910 a.a.
Protein Preferred Names Protein Names

DNA repair and recombination protein RAD54B

RAD54B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RAD54B Q9Y620 LNX1 Homo sapiens Q8TBB1 32296183
Intra
RAD54B Q9Y620 LNX1 Homo sapiens Q8TBB1 32296183
Intra
RAD54B Q9Y620 LNX1 Homo sapiens Q8TBB1 16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Lymphoma, Non-Hodgkin, Familial
  • Non-Hodgkin Lymphoma

  • Lymphoma, Non-Hodgkin

  • NHL

  • Lymphoma, Non-Hodgkin, Somatic

  • Lymphoma, Follicular, Somatic

  • Familial Non-Hodgkin Lymphoma

  • Lymphoma Non-Hodgkins

  • Follicular Lymphoma, Somatic

  • Lymphosarcoma

  • Non-Hodgkins Lymphoma

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta RAD54B VGNC VGNC:99473
Bos taurus RAD54B VGNC VGNC:99677
Canis familiaris RAD54B VGNC VGNC:54119
Rattus norvegicus RAD54B RGD RGD:1306507
Mus musculus RAD54B MGD MGI:3605986
Felis catus RAD54B VGNC VGNC:99689
Others RAD54B NCBI