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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	114049
Gene name	BUD23 rRNA methyltransferase and ribosome maturation factor
Gene symbol	BUD23
Synonyms (NCBI Gene)	HASJ4442HUSSY-3MERM1PP3381WBMTWBSCR22
Chromosome	7
Chromosome location	7q11.23
Summary	This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a m

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Show/Hide all (179)

miRTarBase ID	miRNA	Experiments	Reference
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT611882	hsa-miR-4308	HITS-CLIP	19536157
MIRT611881	hsa-miR-4292	HITS-CLIP	19536157
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	19536157
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT611875	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT611882	hsa-miR-4308	HITS-CLIP	19536157
MIRT611881	hsa-miR-4292	HITS-CLIP	19536157
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	19536157
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT615974	hsa-miR-875-3p	HITS-CLIP	19536157
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT611875	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT615974	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT641480	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT615974	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615973	hsa-miR-3978	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT641480	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT615974	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT641480	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT615974	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT615974	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT615974	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615973	hsa-miR-3978	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT615974	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615973	hsa-miR-3978	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT615974	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615973	hsa-miR-3978	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT615974	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615973	hsa-miR-3978	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT611884	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT611883	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT611882	hsa-miR-4308	HITS-CLIP	23824327
MIRT611881	hsa-miR-4292	HITS-CLIP	23824327
MIRT611880	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611879	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT611878	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611877	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611876	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611875	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT611874	hsa-miR-1238-3p	HITS-CLIP	23824327

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	25851604, 28514442, 32296183, 33961781, 34948388
GO:0005634	Component	Nucleus	IDA	34948388
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	25851604
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008168	Function	Methyltransferase activity	NAS	11124703
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IEA
GO:0016435	Function	RRNA (guanine) methyltransferase activity	IBA
GO:0016435	Function	RRNA (guanine) methyltransferase activity	IEA
GO:0016435	Function	RRNA (guanine) methyltransferase activity	IMP	25851604
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	25851604
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	25851604
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070476	Process	RRNA (guanine-N7)-methylation	IBA
GO:0070476	Process	RRNA (guanine-N7)-methylation	IEA
GO:0070476	Process	RRNA (guanine-N7)-methylation	IMP	25851604
GO:2000234	Process	Positive regulation of rRNA processing	IMP	25851604

MIM	HGNC	e!Ensembl
615733	16405	ENSG00000071462

O43709

Protein name

18S rRNA (guanine-N(7))-methyltransferase (EC 2.1.1.-) (Bud site selection protein 23 homolog) (Metastasis-related methyltransferase 1) (Williams-Beuren syndrome chromosomal region 22 protein) (rRNA methyltransferase and ribosome maturation factor)

Protein function

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed

PDB

6G4W , 7WTS , 7WTT , 7WTU , 7WTV , 7WTW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08241	Methyltransf_11	58 → 161	Methyltransferase domain	Domain
PF12589	WBS_methylT	204 → 279	Methyltransferase involved in Williams-Beuren syndrome	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with high levels in heart, skeletal muscle and kidney. Detected at high levels in bronchial brushings and in normal lung (at protein level). In fetal lung tissue, expressed in the developing bronchial lumen lining cel

Sequence

MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDI
GCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCI
SISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATK
AGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMS
RRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF

Sequence length

281

Interactions

View interactions

	Reactome
			rRNA modification in the nucleus and cytosol Major pathway of rRNA processing in the nucleolus and cytosol

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	24086612	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35088887	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29133897, 29888105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35352485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28937628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	24488492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24488492	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24488492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	22147262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	31192914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35088887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	11978965, 30535232		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams Syndrome	LHGDN	11978965		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams syndrome	Pubtator	24086612	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams syndrome	Pubtator	25525153	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor)