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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 (RAD54 Homolog B) 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 Holliday Junction Intermediates. Gene Ontology (GO) annotations related to this gene include hydrolase activity and RNA helicase activity. An important paralog of this gene is RAD54L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
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 ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Resolution of D-loop Structures through Holliday Junction Intermediates |
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,IBA | 21873635 |
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAD54B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAD54B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAD54B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rad54b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rad54b 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RAD54B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAD54B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAD54B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAD54B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rad54b 30 |
|
||
Str.5565 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32066 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rad54b 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006945 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | Y116A8C.13 32 |
|
|
|
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F11814g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RDH54 30 33 |
|
||
RAD54 31 |
|
OneToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL212W 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rdh54 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
870770 | Likely Pathogenic: not provided | 94,393,847(-) |
CA/C NM_012415.3(RAD54B):c.1413del (p.Phe471fs) |
FRAMESHIFT | |
rs113276250 | Benign: not provided | 94,407,566(-) |
C/T NM_012415.3(RAD54B):c.654G>A (p.Ser218=) |
SYNONYMOUS | |
rs114216685 | Benign: Non-Hodgkin lymphoma; not provided. A non-Hodgkin lymphoma sample | 94,391,640(-) |
T/Cp.Asn593Ser NM_012415.3(RAD54B):c.1778A>G (p.Asn593Ser) |
MISSENSE | |
rs114429444 | Likely Benign: not provided | 94,378,363(-) |
T/C NM_012415.3(RAD54B):c.2332A>G (p.Ile778Val) |
MISSENSE | |
rs116312454 | Likely Benign: not provided | 94,372,264(-) |
T/C NM_012415.3(RAD54B):c.2639A>G (p.Asp880Gly) |
MISSENSE |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lymphoma, non-hodgkin, familial |
|
|
colorectal cancer |
|
|
lymphoma |
|
|
lynch syndrome |
|
|