Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25788
Gene name Gene Name - the full gene name approved by the HGNC.	RAD54 homolog B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RAD54B
Synonyms (NCBI Gene) Gene synonyms aliases	RDH54
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	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-stra

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114216685	T>C	Benign, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs119490107	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

Show/Hide all(37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024274	hsa-miR-215-5p	Microarray	19074876
MIRT024274	hsa-miR-215-5p	Microarray	19074876
MIRT024274	hsa-miR-215-5p	Microarray	19074876
MIRT026800	hsa-miR-192-5p	Microarray	19074876
MIRT042701	hsa-miR-346	CLASH	23622248
MIRT1288235	hsa-miR-1273	CLIP-seq
MIRT1288236	hsa-miR-1273c	CLIP-seq
MIRT1288237	hsa-miR-1303	CLIP-seq
MIRT1288238	hsa-miR-3124-3p	CLIP-seq
MIRT1288239	hsa-miR-548ae	CLIP-seq
MIRT1288240	hsa-miR-548aj	CLIP-seq
MIRT1288241	hsa-miR-548am	CLIP-seq
MIRT1288242	hsa-miR-548x	CLIP-seq
MIRT1288243	hsa-miR-587	CLIP-seq
MIRT2085324	hsa-miR-1248	CLIP-seq
MIRT2085325	hsa-miR-1305	CLIP-seq
MIRT2085326	hsa-miR-3976	CLIP-seq
MIRT2085327	hsa-miR-4297	CLIP-seq
MIRT2085328	hsa-miR-548a-5p	CLIP-seq
MIRT2085329	hsa-miR-548ab	CLIP-seq
MIRT2085330	hsa-miR-548ak	CLIP-seq
MIRT2085331	hsa-miR-548b-5p	CLIP-seq
MIRT2085332	hsa-miR-548c-5p	CLIP-seq
MIRT2085333	hsa-miR-548d-5p	CLIP-seq
MIRT2085334	hsa-miR-548h	CLIP-seq
MIRT2085335	hsa-miR-548i	CLIP-seq
MIRT2085336	hsa-miR-548j	CLIP-seq
MIRT2085337	hsa-miR-548k	CLIP-seq
MIRT2085338	hsa-miR-548l	CLIP-seq
MIRT2085339	hsa-miR-548w	CLIP-seq
MIRT2085340	hsa-miR-548y	CLIP-seq
MIRT2085341	hsa-miR-559	CLIP-seq
MIRT2085342	hsa-miR-561	CLIP-seq
MIRT1288243	hsa-miR-587	CLIP-seq
MIRT2085343	hsa-miR-942	CLIP-seq
MIRT2310771	hsa-miR-129-5p	CLIP-seq
MIRT2310772	hsa-miR-4436b-5p	CLIP-seq

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA	21873635
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	16428451
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	TAS	10362364
GO:0003724	Function	RNA helicase activity	TAS	10362364
GO:0005515	Function	Protein binding	IPI	16189514, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006312	Process	Mitotic recombination	TAS	10362364
GO:0007131	Process	Reciprocal meiotic recombination	IBA	21873635
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0015616	Function	DNA translocase activity	IBA	21873635
GO:0015616	Function	DNA translocase activity	IDA	16428451
GO:0032508	Process	DNA duplex unwinding	IEA
GO:0042493	Process	Response to drug	IEA

MIM	HGNC	e!Ensembl
604289	17228	ENSG00000197275

Protein

UniProt ID

Q9Y620

Protein name

DNA repair and recombination protein RAD54B (EC 3.6.4.-) (RAD54 homolog B)

Protein function

Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00176	SNF2_N	310 → 598	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	642 → 758	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in testis and spleen. Relatively low levels observed in thymus, prostate, ovary and colon. {ECO:0000269|PubMed:10362364}.

Sequence

MRRSAAPSQLQGNSFKKPKFIPPGRSNPGLNEEITKLNPDIKLFEGVAINNTFLPSQNDL
RICSLNLPSEESTREINNRDNCSGKYCFEAPTLATLDPPHTVHSAPKEVAVSKEQEEKSD
SLVKYFSVVWCKPSKKKHKKWEGDAVLIVKGKSFILKNLEGKDIGRGIGYKFKELEKIEE
GQTLMICGKEIEVMGVISPDDFSSGRCFQLGGGSTAISHSSQVARKCFSNPFKSVCKPSS
KENRQNDFQNCKPRHDPYTPNSLVMPRPDKNHQWVFNKNCFPLVDVVIDPYLVYHLRPHQ
KEGIIFLYECVMGMRMNGRCGAILADEMGLGKTLQCISLIWTLQCQGPYGGKPVIKKTLI
VTPGSLVNNWKKEFQKWLGSERIKIFTVDQDHKVEEFIKSIFYSVLIISYEMLLRSLDQI
KNIKFDLLICDEGHRLKNSAIKTTTALISLSCEKRIILTGTPIQNDLQEFFALIDFVNPG
ILGSLSSYRKIYEEPIILSREPSASEEEKELGERRAAELTCLTGLFILRRTQEIINKYLP
PKIENVVFCRPGALQIELYRKLLNSQVVRFCLQGLLENSPHLICIGALKKLCNHPCLLFN
SIKEKECSSTCDKNEEKSLYKGLLSVFPADYNPLLFTEKESGKLQVLSKLLAVIHELRPT
EKVVLVSNYTQTLNILQEVCKRHGYAYTRLDGQTPISQRQQIVDGFNSQHSSFFIFLLSS
KAGGVGLNLIGGSHLILYDIDWNPATDIQAMSRVWRDGQKYPVHIYRLLTTGTIEEKIYQ
RQISKQGLCGAVVDLTKTSEHIQFSVEELKNLFTLHESSDCVTHDLLDCECTGEEVHTGD
SLEKFIVSRDCQLGPHHQKSNSLKPLSMSQLKQWKHFSGDHLNLTDPFLERITENVSFIF
QNITTQATGT

Sequence length

910

Interactions

View interactions

	KEGG
	Homologous recombination

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID
Causal
Colonic neoplasms	Malignant tumor of colon	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)
Diffuse lymphoma	Diffuse Mixed-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291
Lymphoma	Lymphoma, Lymphoma, Mixed-Cell, Lymphoma, Undifferentiated, Lymphoma, Small Noncleaved-Cell, Lymphoma, Diffuse, Lymphoma, Non-Hodgkin, Familial	rs11540652, rs1592119138, rs1592123162, rs1599367044
Non-hodgkin lymphoma	Lymphoma, Non-Hodgkin	rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	26431531, 27655641
Alzheimer Disease	Associate	37162726
Breast Neoplasms	Associate	35655723, 35847584
Carcinoma Hepatocellular	Associate	29956808, 30394818, 35847584, 37923899
Cholangiocarcinoma	Associate	35847584
Chromosomal Instability	Associate	19218431
Colorectal Neoplasms	Associate	11782437, 19218431, 24002644, 26046797, 27902462
Esophageal Squamous Cell Carcinoma	Associate	23504502
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	40344211
Lung Neoplasms	Associate	31558081
Lymphatic Metastasis	Associate	35847584
Melanoma	Associate	39795882
Neoplasms	Associate	15056673, 19218431, 25765654, 27655641, 27902462, 29956808, 35847584, 35952757
Orofacial Cleft 1	Associate	28232668
Ovarian Neoplasms	Associate	35952757
Pheochromocytoma	Associate	40290304
Prostatic Neoplasms	Associate	36095024
Stomach Neoplasms	Associate	23504502
Tachycardia Atrioventricular Nodal Reentry	Associate	26431531

RAD54B (RAD54 homolog B)