RAD54B (RAD54 homolog B)

Gene

• Entrez ID: 25788
• Gene name: RAD54 homolog B
• Gene symbol: RAD54B
• Synonyms (NCBI Gene): RDH54
• Chromosome: 8
• Chromosome location: 8q22.1
• 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-stra

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	16428451
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	TAS	10362364
GO:0003724	Function	RNA helicase activity	TAS	10362364
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006312	Process	Mitotic recombination	TAS	10362364
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IBA
GO:0007131	Process	Reciprocal meiotic recombination	TAS	10362364
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0015616	Function	DNA translocase activity	IBA
GO:0015616	Function	DNA translocase activity	IDA	16428451
GO:0016787	Function	Hydrolase activity	IEA

Other IDs

• MIM: 604289
• HGNC: 17228
• e!Ensembl: 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

Pathways

KEGG:

Homologous recombination

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Carcinoma of colon	Pathogenic	rs119490107	RCV000005993	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar ClinVar, HPO ClinVar, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Hodgkin lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26431531, 27655641		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37162726	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31545289, 31612045		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35655723, 35847584	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29956808, 30394818, 35847584, 37923899	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35847584	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	19218431	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10362364, 11782437		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19218431		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11782437, 19218431, 24002644, 26046797, 27902462	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	30204892		★☆☆☆☆ Found in Text Mining only
Diffuse Mixed-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23504502	Associate	★☆☆☆☆ Found in Text Mining only
High Grade Lymphoma (neoplasm)	High Grade Lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	23876972		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29956808		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29956808		★☆☆☆☆ Found in Text Mining only
Low Grade Lymphoma (neoplasm)	Low Grade Lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31558081	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35847584	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10362364		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Diffuse	Lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Intermediate-Grade	Intermediate Grade Lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Mixed-Cell	Lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Noncleaved-Cell	Lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Undifferentiated	Lymphoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31545289, 31612045		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29956808		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19218431, 28295846, 29956808		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10362364, 11782437		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17585536		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	39795882	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	24002644, 28295846, 31545289, 31612045		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	12066197		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	28232668	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35952757	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	40290304	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23876972		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36095024	Associate	★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23504502	Associate	★☆☆☆☆ Found in Text Mining only