RAD54B (RAD54 homolog B) - Rat Genome Database

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Gene: RAD54B (RAD54 homolog B) Homo sapiens
Analyze
Symbol: RAD54B
Name: RAD54 homolog B
RGD ID: 1604371
HGNC Page HGNC
Description: Exhibits DNA translocase activity and identical protein binding activity. Involved in double-strand break repair via homologous recombination. Localizes to nucleoplasm. Implicated in colorectal cancer and non-Hodgkin lymphoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DNA repair and recombination protein RAD54B; fibrinogen silencer binding protein; fibrinogen silencer-binding protein-like; FSBP; RAD54 homolog B (S. cerevisiae); RDH54
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl894,371,960 - 94,475,115 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl894,372,170 - 94,436,952 (-)EnsemblGRCh38hg38GRCh38
GRCh38894,371,960 - 94,475,115 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,384,188 - 95,487,343 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36895,453,364 - 95,556,486 (-)NCBINCBI36hg18NCBI36
Celera891,570,193 - 91,673,298 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,593,192 - 90,696,254 (-)NCBIHuRef
CHM1_1895,424,379 - 95,527,598 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleoplasm  (IDA)
nucleus  (IBA,IDA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10362364   PMID:10737800   PMID:10851248   PMID:11181995   PMID:11782437   PMID:11884632   PMID:12477932   PMID:15146197   PMID:15164066   PMID:15489334   PMID:16189514   PMID:16344560  
PMID:16428451   PMID:16945962   PMID:17118963   PMID:17353931   PMID:17405295   PMID:17417655   PMID:17567985   PMID:17585536   PMID:18029348   PMID:18463164   PMID:18718930   PMID:19012493  
PMID:19060904   PMID:19124506   PMID:19218431   PMID:19536092   PMID:19690177   PMID:20301390   PMID:20522537   PMID:20610542   PMID:20687897   PMID:21145461   PMID:21516116   PMID:21873635  
PMID:23876972   PMID:24002644   PMID:24163370   PMID:24412244   PMID:25192599   PMID:25384516   PMID:25416956   PMID:25765654   PMID:25814554   PMID:25910212   PMID:26046797   PMID:26431531  
PMID:26972000   PMID:27107014   PMID:28295846   PMID:28514442   PMID:29956808   PMID:30172247   PMID:30394818   PMID:31545289   PMID:31558081   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
RAD54B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl894,371,960 - 94,475,115 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl894,372,170 - 94,436,952 (-)EnsemblGRCh38hg38GRCh38
GRCh38894,371,960 - 94,475,115 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,384,188 - 95,487,343 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36895,453,364 - 95,556,486 (-)NCBINCBI36hg18NCBI36
Celera891,570,193 - 91,673,298 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,593,192 - 90,696,254 (-)NCBIHuRef
CHM1_1895,424,379 - 95,527,598 (-)NCBICHM1_1
Rad54b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39411,558,920 - 11,615,808 (+)NCBIGRCm39mm39
GRCm39 Ensembl411,558,922 - 11,615,805 (+)Ensembl
GRCm38411,558,920 - 11,615,808 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl411,558,922 - 11,615,805 (+)EnsemblGRCm38mm10GRCm38
MGSCv37411,486,119 - 11,542,954 (+)NCBIGRCm37mm9NCBIm37
MGSCv36411,486,119 - 11,542,954 (+)NCBImm8
Celera411,370,521 - 11,427,320 (+)NCBICelera
Cytogenetic Map4A1NCBI
Rad54b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2525,030,885 - 25,104,616 (+)NCBI
Rnor_6.0 Ensembl525,146,949 - 25,214,376 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0525,140,531 - 25,214,469 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0529,858,083 - 29,928,815 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4525,830,524 - 25,899,650 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1525,805,592 - 25,899,511 (+)NCBI
Celera524,374,271 - 24,442,857 (+)NCBICelera
Cytogenetic Map5q13NCBI
Rad54b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541710,597,450 - 10,686,005 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541710,598,295 - 10,685,999 (-)NCBIChiLan1.0ChiLan1.0
RAD54B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1892,939,322 - 93,041,620 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl892,939,535 - 93,034,060 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0890,995,229 - 91,098,149 (-)NCBIMhudiblu_PPA_v0panPan3
RAD54B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12939,096,680 - 39,195,054 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2939,098,098 - 39,195,112 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2939,257,809 - 39,359,514 (-)NCBI
ROS_Cfam_1.02939,300,442 - 39,402,291 (-)NCBI
UMICH_Zoey_3.12939,326,093 - 39,415,024 (-)NCBI
UNSW_CanFamBas_1.02939,309,124 - 39,410,322 (-)NCBI
UU_Cfam_GSD_1.02939,752,073 - 39,851,462 (-)NCBI
Rad54b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,317,341 - 40,417,142 (+)NCBI
SpeTri2.0NW_0049365447,375,566 - 7,475,319 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAD54B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl442,249,512 - 42,369,447 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1442,249,482 - 42,369,408 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2445,616,371 - 45,730,628 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RAD54B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1889,351,203 - 89,450,047 (-)NCBI
ChlSab1.1 Ensembl889,351,415 - 89,442,825 (-)Ensembl
Rad54b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247631,773,943 - 1,878,032 (-)NCBI

Position Markers
RH102311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,384,401 - 95,384,523UniSTSGRCh37
Build 36895,453,577 - 95,453,699RGDNCBI36
Celera891,570,406 - 91,570,528RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,593,405 - 90,593,527UniSTS
GeneMap99-GB4 RH Map8435.0UniSTS
D8S1441E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,441,040 - 95,441,163UniSTSGRCh37
Build 36895,510,216 - 95,510,339RGDNCBI36
Celera891,627,028 - 91,627,151RGD
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map8qUniSTS
HuRef890,649,974 - 90,650,097UniSTS
FSBP__6757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,444,125 - 95,444,850UniSTSGRCh37
Build 36895,513,301 - 95,514,026RGDNCBI36
Celera891,630,113 - 91,630,838RGD
HuRef890,653,059 - 90,653,784UniSTS
RAD54B_2810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,384,153 - 95,384,673UniSTSGRCh37
Build 36895,453,329 - 95,453,849RGDNCBI36
Celera891,570,158 - 91,570,678RGD
HuRef890,593,157 - 90,593,677UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1511
Count of miRNA genes:863
Interacting mature miRNAs:982
Transcripts:ENST00000297592, ENST00000336148, ENST00000463267, ENST00000518358, ENST00000518998, ENST00000519348, ENST00000523192, ENST00000523839
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 18 6 4 20 4 62 7 5 7 54 27 2
Low 2404 2486 2319 610 1144 324 5555 1640 4379 342 2331 2170 301 1 1231 3656 4 2
Below cutoff 2144 2603 805 388 1181 353 2663 2519 2826 176 183 627 35 1130 1817 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001205262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001205263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF766767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP872374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN356732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA553267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297592   ⟹   ENSP00000430153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,431,160 - 94,475,062 (-)Ensembl
RefSeq Acc Id: ENST00000336148   ⟹   ENSP00000336606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,371,960 - 94,475,115 (-)Ensembl
RefSeq Acc Id: ENST00000463267   ⟹   ENSP00000430808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,391,807 - 94,475,082 (-)Ensembl
RefSeq Acc Id: ENST00000481490   ⟹   ENSP00000420405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,427,716 - 94,436,944 (-)Ensembl
RefSeq Acc Id: ENST00000517506   ⟹   ENSP00000462684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,378,377 - 94,436,952 (-)Ensembl
RefSeq Acc Id: ENST00000518358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,380,270 - 94,387,429 (-)Ensembl
RefSeq Acc Id: ENST00000518998   ⟹   ENSP00000430570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,407,522 - 94,475,054 (-)Ensembl
RefSeq Acc Id: ENST00000519348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,371,961 - 94,373,090 (-)Ensembl
RefSeq Acc Id: ENST00000523192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,393,423 - 94,399,583 (-)Ensembl
RefSeq Acc Id: ENST00000523839   ⟹   ENSP00000428554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,411,243 - 94,468,014 (-)Ensembl
RefSeq Acc Id: NM_001205262   ⟹   NP_001192191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,427,716 - 94,475,115 (-)NCBI
GRCh37895,384,188 - 95,487,343 (-)ENTREZGENE
HuRef890,593,192 - 90,696,254 (-)ENTREZGENE
CHM1_1895,480,195 - 95,527,598 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001205263   ⟹   NP_001192192
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,371,960 - 94,436,944 (-)NCBI
GRCh37895,384,188 - 95,487,343 (-)ENTREZGENE
HuRef890,593,192 - 90,696,254 (-)ENTREZGENE
CHM1_1895,424,379 - 95,489,435 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012415   ⟹   NP_036547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,371,960 - 94,475,115 (-)NCBI
GRCh37895,384,188 - 95,487,343 (-)ENTREZGENE
Build 36895,453,364 - 95,556,486 (-)NCBI Archive
HuRef890,593,192 - 90,696,254 (-)ENTREZGENE
CHM1_1895,424,379 - 95,527,598 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036547   ⟸   NM_012415
- Peptide Label: isoform 1
- UniProtKB: Q9Y620 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001192192   ⟸   NM_001205263
- Peptide Label: isoform 3
- UniProtKB: Q9Y620 (UniProtKB/Swiss-Prot),   A0A087X0H2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001192191   ⟸   NM_001205262
- Peptide Label: isoform 2
- UniProtKB: O95073 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000430808   ⟸   ENST00000463267
RefSeq Acc Id: ENSP00000462684   ⟸   ENST00000517506
RefSeq Acc Id: ENSP00000430570   ⟸   ENST00000518998
RefSeq Acc Id: ENSP00000336606   ⟸   ENST00000336148
RefSeq Acc Id: ENSP00000430153   ⟸   ENST00000297592
RefSeq Acc Id: ENSP00000420405   ⟸   ENST00000481490
RefSeq Acc Id: ENSP00000428554   ⟸   ENST00000523839
Promoters
RGD ID:7213775
Promoter ID:EPDNEW_H12634
Type:initiation region
Name:RAD54B_3
Description:RAD54 homolog B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12636  EPDNEW_H12639  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,380,263 - 94,380,323EPDNEW
RGD ID:7213779
Promoter ID:EPDNEW_H12635
Type:initiation region
Name:FSBP_3
Description:fibrinogen silencer binding protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12638  EPDNEW_H12637  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,432,386 - 94,432,446EPDNEW
RGD ID:7213781
Promoter ID:EPDNEW_H12636
Type:initiation region
Name:RAD54B_2
Description:RAD54 homolog B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12634  EPDNEW_H12639  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,436,540 - 94,436,600EPDNEW
RGD ID:7213783
Promoter ID:EPDNEW_H12638
Type:initiation region
Name:FSBP_2
Description:fibrinogen silencer binding protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12635  EPDNEW_H12637  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,467,987 - 94,468,047EPDNEW
RGD ID:7213787
Promoter ID:EPDNEW_H12639
Type:initiation region
Name:RAD54B_1
Description:RAD54 homolog B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12634  EPDNEW_H12636  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,475,088 - 94,475,148EPDNEW
RGD ID:6806478
Promoter ID:HG_KWN:61719
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000257803,   UC010MAY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36895,518,079 - 95,518,579 (-)MPROMDB
RGD ID:6806992
Promoter ID:HG_KWN:61720
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000336148,   UC003YGL.1,   UC003YGN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36895,556,241 - 95,556,741 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012415.3(RAD54B):c.1778A>G (p.Asn593Ser) single nucleotide variant Non-Hodgkin lymphoma [RCV000005992]|not provided [RCV000885493] Chr8:94391640 [GRCh38]
Chr8:95403868 [GRCh37]
Chr8:8q22.1
pathogenic|benign|other
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr) single nucleotide variant Carcinoma of colon [RCV000005993] Chr8:94399540 [GRCh38]
Chr8:95411768 [GRCh37]
Chr8:8q22.1
pathogenic|other
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1(chr8:94283890-94959597)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053675]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053675]|See cases [RCV000053675] Chr8:94283890..94959597 [GRCh38]
Chr8:95296118..95971825 [GRCh37]
Chr8:95365294..96041001 [NCBI36]
Chr8:8q22.1
benign
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
NM_012415.3(RAD54B):c.1581C>T (p.Ile527=) single nucleotide variant Malignant melanoma [RCV000061839] Chr8:94391837 [GRCh38]
Chr8:95404065 [GRCh37]
Chr8:95473241 [NCBI36]
Chr8:8q22.1
not provided
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_012415.3(RAD54B):c.1014G>A (p.Ser338=) single nucleotide variant not provided [RCV000965780] Chr8:94400394 [GRCh38]
Chr8:95412622 [GRCh37]
Chr8:8q22.1
benign
NM_012415.3(RAD54B):c.2332A>G (p.Ile778Val) single nucleotide variant not provided [RCV000895655] Chr8:94378363 [GRCh38]
Chr8:95390591 [GRCh37]
Chr8:8q22.1
likely benign
NM_012415.3(RAD54B):c.2733del (p.Ter911TyrextTer?) deletion not provided [RCV000896258] Chr8:94372170 [GRCh38]
Chr8:95384398 [GRCh37]
Chr8:8q22.1
likely benign
NM_012415.3(RAD54B):c.654G>A (p.Ser218=) single nucleotide variant not provided [RCV000903529] Chr8:94407566 [GRCh38]
Chr8:95419794 [GRCh37]
Chr8:8q22.1
benign
NM_012415.3(RAD54B):c.1413del (p.Phe471fs) deletion not provided [RCV001090386] Chr8:94393848 [GRCh38]
Chr8:95406076 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:94810526-95397957)x4 copy number gain not provided [RCV001006121] Chr8:94810526..95397957 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_012415.3(RAD54B):c.2639A>G (p.Asp880Gly) single nucleotide variant not provided [RCV000954176] Chr8:94372264 [GRCh38]
Chr8:95384492 [GRCh37]
Chr8:8q22.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17228 AgrOrtholog
COSMIC RAD54B COSMIC
Ensembl Genes ENSG00000197275 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000265817 Ensembl, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000336606 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420405 UniProtKB/Swiss-Prot
  ENSP00000428554 UniProtKB/TrEMBL
  ENSP00000430153 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430570 UniProtKB/TrEMBL
  ENSP00000430808 UniProtKB/TrEMBL
Ensembl Transcript ENST00000297592 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000336148 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000463267 UniProtKB/TrEMBL
  ENST00000481490 UniProtKB/Swiss-Prot
  ENST00000518998 UniProtKB/TrEMBL
  ENST00000523839 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10810 UniProtKB/Swiss-Prot
GTEx ENSG00000197275 GTEx
  ENSG00000265817 GTEx
HGNC ID HGNC:17228 ENTREZGENE
Human Proteome Map RAD54B Human Proteome Map
InterPro FSBP UniProtKB/Swiss-Prot
  Helicase_ATP-bd UniProtKB/Swiss-Prot
  Helicase_C UniProtKB/Swiss-Prot
  Myb_DNA-bind_5 UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  SNF2-like_sf UniProtKB/Swiss-Prot
  SNF2_N UniProtKB/Swiss-Prot
KEGG Report hsa:100861412 UniProtKB/Swiss-Prot
  hsa:25788 UniProtKB/Swiss-Prot
NCBI Gene 25788 ENTREZGENE
OMIM 114500 OMIM
  604289 OMIM
  605027 OMIM
PANTHER PTHR15386 UniProtKB/Swiss-Prot
Pfam Helicase_C UniProtKB/Swiss-Prot
  Myb_DNA-bind_5 UniProtKB/Swiss-Prot
  SNF2_N UniProtKB/Swiss-Prot
PharmGKB PA134927202 PharmGKB
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot
  HELICASE_CTER UniProtKB/Swiss-Prot
SMART DEXDc UniProtKB/Swiss-Prot
  HELICc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt A0A087X0H2 ENTREZGENE
  E5RHN9_HUMAN UniProtKB/TrEMBL
  E5RI14_HUMAN UniProtKB/TrEMBL
  E5RJF7_HUMAN UniProtKB/TrEMBL
  FSBP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9Y620 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary F6WBS8 UniProtKB/Swiss-Prot
  Q8N4S5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-06 RAD54B  RAD54 homolog B    RAD54 homolog B (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-08-17 RAD54B  RAD54 homolog B (S. cerevisiae)  RAD54B  RAD54 homolog B (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED