RAD54B RAD54 homolog B [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAD54Bprovided by HGNC
Official Full Name: RAD54 homolog Bprovided by HGNC
Primary source: HGNC:HGNC:17228
See related: Ensembl:ENSG00000197275 MIM:604289; AllianceGenome:HGNC:17228
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RDH54
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]
Expression: Ubiquitous expression in testis (RPKM 1.8), prostate (RPKM 1.3) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8q22.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (94371960..94475115, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (95496851..95599948, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (95384188..95487343, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RAD54B promotes gastric cancer cell migration and angiogenesis via the Wnt/beta-catenin pathway.
Title: RAD54B promotes gastric cancer cell migration and angiogenesis via the Wnt/β-catenin pathway.
RNA-sequencing analysis reveals the potential molecular mechanism of RAD54B in the proliferation of inflamed human dental pulp cells.
Title: RNA-sequencing analysis reveals the potential molecular mechanism of RAD54B in the proliferation of inflamed human dental pulp cells.
RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.
Title: RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.
Integrated study of miR-215 promoting breast cancer cell apoptosis by targeting RAD54B.
Title: Integrated study of miR-215 promoting breast cancer cell apoptosis by targeting RAD54B.
RAD54B exerts an oncogenic role in lung cancer cell proliferation.
Title: Knockdown of RAD54B expression reduces cell proliferation and induces apoptosis in lung cancer cells.
the biological role of RAD54B in the neoplastic process of luminal A breast cancer, is reported.
Title: RAD54B potentiates tumor growth and predicts poor prognosis of patients with luminal A breast cancer.
Results demonstrate that the patched 1 protein (PTCH1) rs10512248 and DNA repair and recombination protein RAD54B (RAD54B) rs12681366 were significantly associated with non-syndromic orofacial clefts (NSOC) in a Northern Chinese population.
Title: Association between PTCH1 and RAD54B single-nucleotide polymorphisms and non-syndromic orofacial clefts in a northern Chinese population.
miR-139-3p target genes ISG20L2, RAD54B, KIAA0101, and PIGS were significantly negatively correlated with miR-139-3p expression in patients with hepatocellular carcinoma.
Title: High miR-139-3p expression predicts a better prognosis for hepatocellular carcinoma: a pooled analysis.
High RAD54B expression is associated with hepatoma.
Title: Inhibition of RAD54B suppresses proliferation and promotes apoptosis in hepatoma cells.
Review of structural aspects of RAD54B, molecular functions associated with its cellular roles in preventing genome instability, and how aberrant function contributes to oncogenesis.
Title: The enigmatic oncogene and tumor suppressor-like properties of RAD54B: Insights into genome instability and cancer.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Colorectal cancer MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome	Compare labs
Lymphoma, non-Hodgkin, familial MedGen: C4721532 OMIM: 605027 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

FSBP__6757 (e-PCR)
- UniSTS:466190

RH102311 (e-PCR)
- UniSTS:96645

D8S1441E (e-PCR)
- UniSTS:151229

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	TAS Traceable Author Statement more info	PubMed
enables DNA translocase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA translocase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA helicase activity	TAS Traceable Author Statement more info	PubMed
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic recombination	TAS Traceable Author Statement more info	PubMed
involved_in reciprocal meiotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ionizing radiation	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: DNA repair and recombination protein RAD54B

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012878.2 RefSeqGene

Range

4968..108123

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001205262.3 → NP_001192191.1 DNA repair and recombination protein RAD54B isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several coding exons and uses an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC023632, BC033710, BP872374

Consensus CDS

CCDS56546.1

UniProtKB/TrEMBL

E5RI14

Related

ENSP00000430153.2, ENST00000297592.5
NM_001205263.2 → NP_001192192.1 DNA repair and recombination protein RAD54B isoform 3

See identical proteins and their annotated locations for NP_001192192.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks 5' several exons but uses an alternate 5' exon, and it thus differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AK307516, BC001965, DA553267

UniProtKB/Swiss-Prot

Q9Y620

UniProtKB/TrEMBL

A0A087X0H2

Conserved Domains (3) summary

cd00046
Location:137 → 278

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

pfam00176
Location:115 → 414

SNF2_N; SNF2 family N-terminal domain

pfam00271
Location:457 → 574

Helicase_C; Helicase conserved C-terminal domain
NM_012415.3 → NP_036547.1 DNA repair and recombination protein RAD54B isoform 1

See identical proteins and their annotated locations for NP_036547.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC001965, BP872374

Consensus CDS

CCDS6262.1

UniProtKB/Swiss-Prot

F6WBS8, Q9Y620

UniProtKB/TrEMBL

A8K322

Related

ENSP00000336606.5, ENST00000336148.10

Conserved Domains (1) summary

COG0553
Location:296 → 815

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

94371960..94475115 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

95496851..95599948 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_006550.1: Suppressed sequence

Description

NM_006550.1: This RefSeq was permanently suppressed because there is insufficient support for the transcript and the protein is not supported by current protein homology data.
NM_134434.1: Suppressed sequence

Description

NM_134434.1: This RefSeq was permanently suppressed because the transcript and the protein are unsupported.