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Aliases for WBSCR22 Gene

Aliases for WBSCR22 Gene

  • Williams Beuren Syndrome Chromosome Region 22 2 3
  • Metastasis-Related Methyltransferase 1 2 3 4
  • MERM1 3 4 6
  • Williams-Beuren Syndrome Chromosomal Region 22 Protein 3 4
  • Bud Site Selection Protein 23 Homolog 3 4
  • Williams-Beuren Candidate Region Putative Methyltransferase 3
  • Probable 18S RRNA (Guanine-N(7))-Methyltransferase 3
  • Ribosome Biogenesis Methyltransferase WBSCR22 3
  • EC 2.1.1.- 4
  • HASJ4442 3
  • HUSSY-3 3
  • PP3381 3
  • WBMT 3

External Ids for WBSCR22 Gene

Summaries for WBSCR22 Gene

Entrez Gene Summary for WBSCR22 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 WBSCR22 Gene

WBSCR22 (Williams Beuren Syndrome Chromosome Region 22) is a Protein Coding gene. Diseases associated with WBSCR22 include williams-beuren syndrome. Among its related pathways are Phenylalanine metabolism and Histidine metabolism. GO annotations related to this gene include methyltransferase activity.

UniProtKB/Swiss-Prot for WBSCR22 Gene

  • S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (By similarity). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors. Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements. Required for maintenance of dimethylation on histone H3 Lys-79 (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).

Gene Wiki entry for WBSCR22 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WBSCR22 Gene

Genomics for WBSCR22 Gene

Genomic Location for WBSCR22 Gene

Start:
73,683,025 bp from pter
End:
73,705,161 bp from pter
Size:
22,137 bases
Orientation:
Plus strand

Genomic View for WBSCR22 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for WBSCR22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WBSCR22 Gene

Regulatory Elements for WBSCR22 Gene

Proteins for WBSCR22 Gene

  • Protein details for WBSCR22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43709-WBS22_HUMAN
    Recommended name:
    Probable 18S rRNA (guanine-N(7))-methyltransferase
    Protein Accession:
    O43709
    Secondary Accessions:
    • A8K501
    • C9K060
    • Q96P12
    • Q9BQ58
    • Q9HBP9

    Protein attributes for WBSCR22 Gene

    Size:
    281 amino acids
    Molecular mass:
    31880 Da
    Quaternary structure:
    • Interacts with GRIP1.
    SequenceCaution:
    • Sequence=AAG17249.1; Type=Frameshift; Positions=194, 203; Evidence={ECO:0000305};

    Alternative splice isoforms for WBSCR22 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WBSCR22 Gene

Proteomics data for WBSCR22 Gene at MOPED

Post-translational modifications for WBSCR22 Gene

  • May be ubiquitinated and targeted to degradation in response to proinflammatory cytokine signaling.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys196, Lys255, and Lys256

No data available for DME Specific Peptides for WBSCR22 Gene

Domains for WBSCR22 Gene

Protein Domains for WBSCR22 Gene

UniProtKB/Swiss-Prot:

WBS22_HUMAN
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. BUD23/WBSCR22 family.:
    • O43709
genes like me logo Genes that share domains with WBSCR22: view

No data available for Gene Families for WBSCR22 Gene

Function for WBSCR22 Gene

Molecular function for WBSCR22 Gene

UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + guanine in 18S rRNA = S-adenosyl-L-homocysteine + N(7)-methylguanine in 18S rRNA
UniProtKB/Swiss-Prot Function: S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (By similarity). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors. Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements. 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 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 WBSCR22 Gene

Gene Ontology (GO) - Molecular Function for WBSCR22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity NAS 11124703
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with WBSCR22: view

Phenotypes for WBSCR22 Gene

GenomeRNAi human phenotypes for WBSCR22:
genes like me logo Genes that share phenotypes with WBSCR22: view

miRNA for WBSCR22 Gene

miRTarBase miRNAs that target WBSCR22

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for WBSCR22 Gene

Localization for WBSCR22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WBSCR22 Gene

Nucleus. Nucleus, nucleolus. Cytoplasm. Note=Localized diffusely throughout the nucleus and the cytoplasm. Localization is not affected by glucocorticoid treatment.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WBSCR22 Gene COMPARTMENTS Subcellular localization image for WBSCR22 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for WBSCR22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with WBSCR22: view

Pathways for WBSCR22 Gene

genes like me logo Genes that share pathways with WBSCR22: view

Pathways by source for WBSCR22 Gene

2 KEGG pathways for WBSCR22 Gene

Gene Ontology (GO) - Biological Process for WBSCR22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006364 rRNA processing IEA --
GO:0008150 biological_process ND --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with WBSCR22: view

Transcripts for WBSCR22 Gene

Unigene Clusters for WBSCR22 Gene

Williams Beuren syndrome chromosome region 22:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR22 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - - - -
SP6: - - - - - -
SP7: - - - - - -
SP8: - -
SP9: - - - - - -
SP10: -
SP11:

Relevant External Links for WBSCR22 Gene

GeneLoc Exon Structure for
WBSCR22
ECgene alternative splicing isoforms for
WBSCR22

Expression for WBSCR22 Gene

mRNA expression in normal human tissues for WBSCR22 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for WBSCR22 Gene

SOURCE GeneReport for Unigene cluster for WBSCR22 Gene Hs.647063

mRNA Expression by UniProt/SwissProt for WBSCR22 Gene

O43709-WBS22_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.
genes like me logo Genes that share expressions with WBSCR22: view

Orthologs for WBSCR22 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WBSCR22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WBSCR22 36
  • 99.44 (n)
  • 99.33 (a)
WBSCR22 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WBSCR22 36
  • 82.09 (n)
  • 81.49 (a)
WBSCR22 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 69 (a)
OneToMany
-- 37
  • 67 (a)
OneToMany
WBSCR22 36
  • 80.67 (n)
  • 78.82 (a)
mouse
(Mus musculus)
Mammalia Wbscr22 36
  • 82.68 (n)
  • 79.72 (a)
Wbscr22 16
Wbscr22 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WBSCR22 37
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WBSCR22 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wbscr22 36
  • 81.26 (n)
  • 79.36 (a)
chicken
(Gallus gallus)
Aves WBSCR22 36
  • 70.7 (n)
  • 71.17 (a)
WBSCR22 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WBSCR22 37
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr22 36
  • 66.67 (n)
  • 67.26 (a)
zebrafish
(Danio rerio)
Actinopterygii wbscr22 36
  • 67.97 (n)
  • 66.19 (a)
wbscr22 37
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003728 36
  • 59.12 (n)
  • 58.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10903 36
  • 59.25 (n)
  • 60.22 (a)
CG10903 37
  • 59 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C27F2.4 36
  • 53.57 (n)
  • 54.29 (a)
C27F2.4 37
  • 52 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR066W 36
  • 54.49 (n)
  • 48.46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD23 36
  • 53.21 (n)
  • 50 (a)
BUD23 37
  • 48 (a)
OneToOne
BUD23 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05962g 36
  • 50.94 (n)
  • 49.43 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G57280 36
  • 55.2 (n)
  • 53.33 (a)
rice
(Oryza sativa)
Liliopsida Os02g0804300 36
  • 57.84 (n)
  • 54.7 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00777 36
  • 56.18 (n)
  • 50.56 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC26A3.06 36
  • 50.13 (n)
  • 50.38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6763 37
  • 58 (a)
OneToOne
Species with no ortholog for WBSCR22:
  • 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 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 WBSCR22 Gene

ENSEMBL:
Gene Tree for WBSCR22 (if available)
TreeFam:
Gene Tree for WBSCR22 (if available)

Paralogs for WBSCR22 Gene

No data available for Paralogs for WBSCR22 Gene

Variants for WBSCR22 Gene

Sequence variations from dbSNP and Humsavar for WBSCR22 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1001220 -- 73,696,273(-) GAATG(A/G)ACTAG intron-variant
rs1135075 -- 73,698,049(+) ccagc(A/C)ccttg utr-variant-3-prime, nc-transcript-variant
rs1141320 -- 73,698,137(+) GGGAG(A/G)AAAAA utr-variant-3-prime, nc-transcript-variant
rs2141166 -- 73,686,458(-) CCATT(A/C/T)GAAAG intron-variant
rs2141167 -- 73,686,394(-) TATCA(C/T)TGCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WBSCR22 Gene

Variant ID Type Subtype PubMed ID
dgv7325n71 CNV Loss 21882294
nsv831028 CNV Loss 17160897
nsv469841 CNV Complex 16826518
nsv888370 CNV Loss 21882294
nsv888371 CNV Loss 21882294

Relevant External Links for WBSCR22 Gene

HapMap Linkage Disequilibrium report
WBSCR22

Disorders for WBSCR22 Gene

UniProtKB/Swiss-Prot

WBS22_HUMAN
  • Note=WBSCR22 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 WBSCR22 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

(1) MalaCards Diseases for WBSCR22 Gene

Search for WBSCR22 Gene in MalaCards »

(2) University of Copenhagen DISEASES for WBSCR22 Gene

genes like me logo Genes that share disorders with WBSCR22: view

Publications for WBSCR22 Gene

  1. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PMID: 11978965) Doll A. … Grzeschik K.-H. (Cytogenet. Cell Genet. 2001) 2 3 4 23
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4
  3. The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells. (PMID: 24086612) Ounap K. … Kurg R. (PLoS ONE 2013) 3 4
  4. The methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer. (PMID: 24488492) Jangani M. … Ray D.W. (J. Biol. Chem. 2014) 3 4
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4

Products for WBSCR22 Gene

Sources for WBSCR22 Gene

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