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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 var... See more...
Aliases for BUD23 Gene
Aliases for BUD23 Gene
- BUD23 RRNA Methyltransferase And Ribosome Maturation Factor 2 3 5
- Metastasis-Related Methyltransferase 1 2 3 4
- MERM1 2 3 4
- Williams-Beuren Syndrome Chromosomal Region 22 Protein 3 4
- RRNA Methyltransferase And Ribosome Maturation Factor 3 4
- Probable 18S RRNA (Guanine-N(7))-Methyltransferase 3 4
- Williams-Beuren Syndrome Chromosome Region 22 2 3
- Bud Site Selection Protein 23 Homolog 3 4
- WBSCR22 3 4
- PP3381 2 3
External Ids for BUD23 Gene
- HGNC: 16405
- NCBI Entrez Gene: 114049
- Ensembl: ENSG00000071462
- OMIM®: 615733
- UniProtKB/Swiss-Prot: O43709
Previous HGNC Symbols for BUD23 Gene
- WBSCR22
Previous GeneCards Identifiers for BUD23 Gene
- GC07P073684
- GC07P073685
Summaries for BUD23 Gene
-
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]
GeneCards Summary for BUD23 Gene
BUD23 (BUD23 RRNA Methyltransferase And Ribosome Maturation Factor) is a Protein Coding gene. Diseases associated with BUD23 include Williams-Beuren Syndrome and Valproate Embryopathy. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression.
UniProtKB/Swiss-Prot Summary for BUD23 Gene
-
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:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).
Additional gene information for BUD23 Gene
- HGNC (16405)
- NCBI Entrez Gene (114049)
- Ensembl (ENSG00000071462)
- OMIM® (615733)
- UniProtKB/Swiss-Prot (O43709)
- Open Targets Platform(ENSG00000071462)
- Search for BUD23 at DataMed
- Search for BUD23 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BUD23 Gene
Genomics for BUD23 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BUD23 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BUD23 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BUD23
Genomic Locations for BUD23 Gene
Latest Assembly
- chr7:73,683,025-73,705,161
- (GRCh38/hg38)
- Size:
- 22,137 bases
- Orientation:
- Plus strand
Previous Assembly
- chr7:73,097,927-73,112,542
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 14,616 bases
- Orientation:
- Plus strand
- chr7:73,097,355-73,119,491
- (GRCh37/hg19 by Ensembl)
- Size:
- 22,137 bases
- Orientation:
- Plus strand
Genomic View for BUD23 Gene
Genes around BUD23 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q11.23 by HGNC
- 7q11.23 by Entrez Gene
- 7q11.23 by Ensembl
BUD23 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BUD23 Gene
Proteins for BUD23 Gene
-
Protein details for BUD23 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O43709-BUD23_HUMAN
- Recommended name:
- Probable 18S rRNA (guanine-N(7))-methyltransferase
- Protein Accession:
- O43709
- A8K501
- C9K060
- Q96P12
- Q9BQ58
- Q9HBP9
Protein attributes for BUD23 Gene
- Size:
- 281 amino acids
- Molecular mass:
- 31880 Da
- Quaternary structure:
-
- Heterodimer with TRMT112; this heterodimerization is necessary for the metabolic stability and activity of the catalytic subunit BUD23 (PubMed:25851604). Interacts with GRIP1.
- SequenceCaution:
-
- Sequence=AAG17249.1; Type=Frameshift; Evidence={ECO:0000305};
Post-translational modifications for BUD23 Gene
- May be ubiquitinated and targeted to degradation in response to proinflammatory cytokine signaling.
-
Ubiquitination at Lys196, Lys255, and Lys256
- NX_O43709 (NX_O43709-1)
- Modification sites at PhosphoSitePlus
Other Protein References for BUD23 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for BUD23
-
Abcam antibodies for BUD23
- Invitrogen Antibodies for BUD23 (AFLGC-BUD23)
-
Boster Bio Antibodies for BUD23
- Sino Biological Antibodies for BUD23
Protein products for research
-
OriGene Purified Proteins for BUD23
- Search Origene for MassSpec and Protein Over-expression Lysates for BUD23
- Origene Custom Protein Services for BUD23
- antibodies-online: Show 5 available WBSCR22 Proteins ranked by validation data
- Compare Top WBSCR22 Proteins
-
Quality Products:
-
Abcam proteins for BUD23
Assay products for research
No data available for DME Specific Peptides for BUD23 Gene
Domains & Families for BUD23 Gene
Gene Families for BUD23 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for BUD23 Gene
- InterPro:
- Blocks:
-
- Methyltransferase type 11
- ProtoNet:
Suggested Antigen Peptide Sequences for BUD23 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ95974, Homo sapiens Williams Beuren syndrome chromosome region 22(WBSCR22), mRNA (A8K501_HUMAN)
- cDNA FLJ33843 fis, clone CTONG2005110, moderately similar to methyltransferase WBSCR22 (EC 2.1.1.-) (B3KR83_HUMAN)
- Williams-Beuren syndrome chromosomal region 22 protein (WBS22_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O43709UniProtKB/Swiss-Prot:
BUD23_HUMAN :- Belongs to the class I-like SAM-binding methyltransferase superfamily. BUD23/WBSCR22 family.
- Family:
-
- Belongs to the class I-like SAM-binding methyltransferase superfamily. BUD23/WBSCR22 family.
Function for BUD23 Gene
Molecular function for BUD23 Gene
- UniProtKB/Swiss-Prot 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:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a guanosine in 18S rRNA + S-adenosyl-L-methionine = an N(7)-methylguanosine in 18S rRNA + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:54584, Rhea:RHEA-COMP:13937, Rhea:RHEA-COMP:13938, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74269, ChEBI:CHEBI:74480; Evidence={ECO:0000269|PubMed:25851604};.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated in CD8+ T lymphocytes by treatment with anti-CD3 and in B lymphocytes by treatment with CD40 ligand and anti-B cell receptor antibody. In macrophages, no induction following LPS treatment. Down-regulated by a combined treatment with TNF and IFNG (at protein level).
Enzyme Numbers (IUBMB) for BUD23 Gene
Phenotypes From GWAS Catalog for BUD23 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0005515 | protein binding | IPI | 25851604 |
| GO:0008168 | methyltransferase activity | NAS | 11124703 |
| GO:0016435 | rRNA (guanine) methyltransferase activity | IEA,IMP | 25851604 |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for BUD23 Gene
- MGI mutant phenotypes for BUD23:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for BUD23:
-
- Decreased hepcidin::fluc mRNA expression
- no effect
- Reduced mammosphere formation
- Decreased viability ratio
- Strongly decreased CFP-tsO45G cell surface transport
- Nucleolar pre-40S maturation defects
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased LDL uptake
Animal Models for research
-
Taconic Biosciences Mouse Models for BUD23
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BUD23 - Starting at $85 >
- * BUD23 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BUD23
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BUD23
miRNA for BUD23 Gene
- miRTarBase miRNAs that target BUD23
-
- hsa-miR-484 (MIRT042038)
- hsa-miR-1238-3p (MIRT611874)
- hsa-miR-670-3p (MIRT611875)
- hsa-miR-6749-3p (MIRT611876)
- hsa-miR-6792-3p (MIRT611877)
- hsa-miR-4691-5p (MIRT611878)
- hsa-miR-7113-3p (MIRT611879)
- hsa-miR-6791-5p (MIRT611880)
- hsa-miR-4292 (MIRT611881)
- hsa-miR-4308 (MIRT611882)
- hsa-miR-208b-5p (MIRT611883)
- hsa-miR-208a-5p (MIRT611884)
- hsa-miR-3978 (MIRT615973)
- hsa-miR-875-3p (MIRT615974)
- hsa-miR-6501-3p (MIRT641480)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BUD23
- Browse OriGene Inhibitory RNA Products For BUD23
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BUD23
Clone products for research
- Applied Biological Materials (abm): Clones for BUD23 - Starting at $45 >
- * BUD23 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BUD23
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BUD23
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BUD23 Gene
Localization for BUD23 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BUD23 Gene
- Nucleus. Nucleus, nucleoplasm. Cytoplasm, perinuclear region. Cytoplasm. Note=Localized diffusely throughout the nucleus and the cytoplasm (PubMed:24488492). Localizes to a polarized perinuclear structure, overlapping partially with the Golgi and lysosomes (PubMed:25851604). Localization is not affected by glucocorticoid treatment (PubMed:24488492). {ECO:0000269 PubMed:24488492, ECO:0000269 PubMed:25851604}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Nucleoli (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IBA,IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0048471 | perinuclear region of cytoplasm | IEA,IDA | 25851604 |
Pathways & Interactions for BUD23 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | rRNA processing in the nucleus and cytosol |
.89
|
|
| 2 | Gene Expression |
.48
|
|
Pathways by source for BUD23 Gene
4 Reactome pathways for BUD23 Gene
Interacting Proteins for BUD23 Gene
Selected Interacting proteins:
O43709-BUD23_HUMAN
ENSP00000401191
for BUD23 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BUD23
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006364 | rRNA processing | IEA | -- |
| GO:0031167 | rRNA methylation | TAS | -- |
| GO:0032259 | methylation | IEA | -- |
| GO:0042254 | ribosome biogenesis | IEA | -- |
No data available for SIGNOR curated interactions for BUD23 Gene
Drugs & Compounds for BUD23 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1,6-Dimethoxypyrene |
|
|
||||
| 1-Hydroxy-6-methoxypyrene |
|
|
||||
| 1-Hydroxyphenanthrene |
|
|
||||
| 1-Hydroxypyrene |
|
5315-79-7 |
|
|||
| 1-Methoxyphenanthrene |
|
|
Transcripts for BUD23 Gene
mRNA/cDNA for BUD23 Gene
- 2 REFSEQ mRNAs :
- 24 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000265758 1201 nts (view in UCSC)
- ENST00000421304 538 nts (view in UCSC)
- ENST00000421744 895 nts (view in UCSC)
- ENST00000423497 1219 nts (view in UCSC)
- ENST00000428163 577 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BUD23 - Starting at $85 >
- * BUD23 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BUD23
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BUD23
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BUD23
- Browse OriGene Inhibitory RNA Products For BUD23
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BUD23
Clone products for research
- Applied Biological Materials (abm): Clones for BUD23 - Starting at $45 >
- * BUD23 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BUD23
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BUD23
Relevant External Links for BUD23 Gene
- GeneLoc Exon Structure for
- BUD23
Expression for BUD23 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BUD23
mRNA Expression by UniProt/SwissProt for BUD23 Gene:
O43709-BUD23_HUMAN
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 cells (at protein level). Tends to be down-regulated in lungs affected by inflammatory diseases or neoplasia (at protein level). Expressed in immune cells, including B and T lymphocytes and macrophages.
Evidence on tissue expression from TISSUES for BUD23 Gene
- Skin(4.7)
- Nervous system(4.7)
- Lung(4.5)
- Pancreas(2.5)
- Heart(2.1)
- Intestine(2.1)
- Muscle(2)
- Kidney(2)
Primer products for research
-
OriGene qPCR primer pairs for BUD23
-
OriGene qPCR primer pairs and template standards for BUD23
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BUD23 Gene
Orthologs for BUD23 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | WBSCR22 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Wbscr22 30 31 |
|
OneToOne | |
| Bud23 17 |
|
||||
| Cow (Bos Taurus) |
Mammalia | WBSCR22 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Wbscr22 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | WBSCR22 30 |
|
||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | WBSCR22 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | WBSCR22 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | WBSCR22 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | WBSCR22 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wbscr22 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | wbscr22 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10903 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003728 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | C27F2.4 30 31 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR066W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BUD23 30 31 33 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F05962g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G57280 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0804300 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6763 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU00777 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC26A3.06 30 |
|
- Species where no ortholog for BUD23 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for BUD23 Gene
- ENSEMBL:
- Gene Tree for BUD23 (if available)
- TreeFam:
- Gene Tree for BUD23 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BUD23: view image
Paralogs for BUD23 Gene
No data available for Paralogs for BUD23 Gene
Variants for BUD23 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BUD23 Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs79257360 | Benign: not provided | 73,693,403(+) |
C/T NM_017528.5(BUD23):c.585C>T (p.Ala195=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
20.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.84;
17.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BUD23 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BUD23 Gene
Disorders for BUD23 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| williams-beuren syndrome |
|
|
| valproate embryopathy |
|
|
| bowen-conradi syndrome |
|
|
| cardiomyopathy, familial restrictive, 1 |
|
|
| dubowitz syndrome |
|
|
Search BUD23 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BUD23_HUMAN- Note=BUD23 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BUD23 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000305 PubMed:11978965}.
Additional Disease Information for BUD23
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for BUD23 Gene
Publications for BUD23 Gene
- The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis. (PMID: 25851604) Zorbas C … Lafontaine DL (Molecular biology of the cell 2015) 2 3 4
- Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4
- Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PMID: 11978965) Doll A … Grzeschik KH (Cytogenetics and cell genetics 2001) 3 4 23
- The methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer. (PMID: 24488492) Jangani M … Ray DW (The Journal of biological chemistry 2014) 3 4
- The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells. (PMID: 24086612) Õunap K … Kurg R (PloS one 2013) 3 4
ExternalLinks
Products for BUD23 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for BUD23
- Search Origene for MassSpec and Protein Over-expression Lysates for BUD23
- Origene Custom Protein Services for BUD23
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BUD23
- Browse OriGene Inhibitory RNA Products For BUD23
- OriGene qPCR primer pairs for BUD23
- OriGene qPCR primer pairs and template standards for BUD23
- OriGene CRISPR knockouts for BUD23
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BUD23
- Sino Biological Human cDNA Clone for BUD23
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for BUD23
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for BUD23
- Novus Biologicals proteins and lysates for BUD23
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for BUD23
- Abcam proteins for BUD23
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for BUD23
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for BUD23 (AFLGC-BUD23)
- VectorBuilder Custom and pre-made DNA vectors for BUD23 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for BUD23 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for BUD23 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for BUD23 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for BUD23
- antibodies-online: Show 15 available WBSCR22 Antibodies ranked by validation data
- Compare Top WBSCR22 Antibodies
- antibodies-online: Search results for available WBSCR22 related products ranked by validation data
- antibodies-online: Show 5 available WBSCR22 Proteins ranked by validation data
- Compare Top WBSCR22 Proteins
- Quality Products:
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BUD23
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BUD23
- Search GeneCopoeia for miRNA 3'UTR Target clone products for BUD23
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BUD23
- Boster Bio Antibodies for BUD23
- Browse Boster Bio ELISA Kits
Sources for BUD23 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB