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Gene : BUD23 Homo sapiens

Name  ? BUD23 rRNA methyltransferase and ribosome maturation factor Cytological Location  7q11.23
Brief Description  BUD23 rRNA methyltransferase and ribosome maturation factor
Description  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 multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
  • synonyms:
  • PP3381,
  • HGNC:16405,
  • WBMT,
  • uc003tyt.4,
  • WBSCR22,
  • HASJ4442,
  • MGC2022,
  • WBMT,
  • MERM1,
  • Williams Beuren syndrome chromosome region 22,
  • NM_001202560,
  • MERM1,
  • metastasis-related methyltransferase 1,
  • PP3381,
  • MGC5140,
  • WBSCR22,
  • AF420248,
  • MGC19709,
  • BUD23,
  • Williams-Beuren syndrome chromosome region 22,
  • OTTHUMG00000023306,
  • HUSSY-3
  • identifiers:
  • 114049,
  • ENSG00000071462,
  • BUD23

Genome feature

Region: gene ? Length: 14642  
Location: 7:73683571-73698212 Cyto location: 7q11.23

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0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SNPs

5 Cross References

16 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results