1. Gene
  2. RAD54B - RAD54 homolog B Gene

RAD54B - RAD54 homolog B Gene

Homo sapiens

Also known as RDH54

Gene ID: 25788 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference 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 Reference 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

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