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Aliases for WBSCR22 Gene

Aliases for WBSCR22 Gene

  • Williams-Beuren Syndrome Chromosome Region 22 2 3 5
  • Metastasis-Related Methyltransferase 1 2 3 4
  • Williams-Beuren Syndrome Chromosomal Region 22 Protein 3 4
  • Bud Site Selection Protein 23 Homolog 3 4
  • MERM1 3 4
  • Williams-Beuren Candidate Region Putative Methyltransferase 3
  • Probable 18S RRNA (Guanine-N(7))-Methyltransferase 3
  • Williams Beuren Syndrome Chromosome Region 22 2
  • Ribosome Biogenesis Methyltransferase WBSCR22 3
  • EC 2.1.1.- 4
  • HASJ4442 3
  • HUSSY-3 3
  • PP3381 3
  • WBMT 3

External Ids for WBSCR22 Gene

Previous GeneCards Identifiers for WBSCR22 Gene

  • GC07P071738
  • GC07P072496
  • GC07P072509
  • GC07P072542
  • GC07P072735
  • GC07P073097
  • GC07P068980

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 rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and 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

Regulatory Elements for WBSCR22 Gene

Enhancers for WBSCR22 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F073849 1.2 FANTOM5 Ensembl ENCODE 25.5 +167.9 167927 3.9 PKNOX1 ARNT SIN3A FEZF1 FOS DEK ZNF263 SP3 JUNB TBX21 WBSCR27 WBSCR22 ELN DNAJC30 VPS37D POM121B MIR590 BCL7B GC07M073847 WBSCR28
GH07F073612 0.8 Ensembl ENCODE 23.7 -69.5 -69539 2.6 PKNOX1 ARNT MLX ARID4B SIN3A FEZF1 DMAP1 YY1 PAF1 ZNF263 WBSCR22 MIR590 POM121 POM121B BCL7B STX1A GTF2IRD2P1 VPS37D DNAJC30 TBL2
GH07F074635 1.1 FANTOM5 Ensembl ENCODE 21.5 +953.0 952992 2.0 PKNOX1 ZFP64 ARID4B SIN3A YBX1 ZNF48 FOS ZNF202 REST PPARG STAG3L1 MIR590 WBSCR27 NSUN5P1 GTF2IRD2 WBSCR22 LOC101926943 PMS2P5 TRIM73 PMS2P2
GH07F073622 0.9 FANTOM5 ENCODE 14.8 -59.2 -59187 2.6 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SP3 SP5 NFYC MLXIPL WBSCR22 BCL7B WBSCR27 BAZ1B PMS2P7 POM121B MIR590 ENSG00000274080
GH07F073736 1 FANTOM5 Ensembl ENCODE 14.8 +57.7 57700 7.8 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 WBSCR27 ABHD11-AS1 SPDYE7P WBSCR22 FKBP6 LOC100101148 POM121B MIR590 ABHD11 CLDN4
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around WBSCR22 on UCSC Golden Path with GeneCards custom track

Promoters for WBSCR22 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001560778 575 2401 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS

Genomic Location for WBSCR22 Gene

Chromosome:
7
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

Genes around WBSCR22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WBSCR22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WBSCR22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for WBSCR22 Gene

  • May be ubiquitinated and targeted to degradation in response to proinflammatory cytokine signaling.
  • Ubiquitination at Lys 196 and Lys 255
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WBSCR22 Gene

Domains & Families for WBSCR22 Gene

Graphical View of Domain Structure for InterPro Entry

O43709

UniProtKB/Swiss-Prot:

WBS22_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.
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:0016435 rRNA (guanine) methyltransferase activity IBA --
GO:0016740 transferase activity IEA --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with WBSCR22: view
genes like me logo Genes that share phenotypes with WBSCR22: view

Animal Model Products

  • Taconic Biosciences Mouse Models for WBSCR22

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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. {ECO:0000269 PubMed:24488492}.

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 IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,IBA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with WBSCR22: view

Pathways & Interactions for WBSCR22 Gene

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

Pathways by source 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 IEA --
genes like me logo Genes that share ontologies with WBSCR22: view

No data available for SIGNOR curated interactions for WBSCR22 Gene

Drugs & Compounds for WBSCR22 Gene

(8) Drugs for WBSCR22 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Histidine Approved Nutra 0
S-Adenosylmethionine Approved Nutra 0
Tetrahydrofolic acid Approved Nutra 0
3-hydroxyanthranilic acid Experimental Pharma 0
s-adenosylhomocysteine Experimental Pharma 0

(14) Additional Compounds for WBSCR22 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,6-Dimethoxypyrene
1-Hydroxy-6-methoxypyrene
1-Hydroxyphenanthrene
  • 1-phenanthrenol
  • phenanthren-1-ol
1-Hydroxypyrene
  • 1-Hydroxy pyrene
  • 1-HYDROXYPYRENE
  • 1-Pyrenol
  • Pyren-1-ol
5315-79-7
1-Methoxyphenanthrene
genes like me logo Genes that share compounds with WBSCR22: view

Transcripts for WBSCR22 Gene

Unigene Clusters for WBSCR22 Gene

Williams Beuren syndrome chromosome region 22:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for WBSCR22 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WBSCR22 Gene

This gene is overexpressed in Testis (31.3) and Plasma (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WBSCR22 Gene



Protein tissue co-expression partners for WBSCR22 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WBSCR22 Gene:

WBSCR22

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 expression patterns with WBSCR22: view

Primer Products

No data available for mRNA differential expression in normal tissues for WBSCR22 Gene

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 34 35
  • 99.44 (n)
mouse
(Mus musculus)
Mammalia Wbscr22 34 16 35
  • 82.68 (n)
cow
(Bos Taurus)
Mammalia WBSCR22 34 35
  • 82.09 (n)
rat
(Rattus norvegicus)
Mammalia Wbscr22 34
  • 81.26 (n)
dog
(Canis familiaris)
Mammalia WBSCR22 34
  • 80.67 (n)
-- 35
  • 69 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia WBSCR22 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WBSCR22 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves WBSCR22 34 35
  • 70.7 (n)
lizard
(Anolis carolinensis)
Reptilia WBSCR22 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr22 34
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii wbscr22 34 35
  • 67.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10903 34 35
  • 59.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003728 34
  • 59.12 (n)
worm
(Caenorhabditis elegans)
Secernentea C27F2.4 34 35
  • 53.57 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR066W 34
  • 54.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD23 34 35 37
  • 53.21 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05962g 34
  • 50.94 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G57280 34
  • 55.2 (n)
rice
(Oryza sativa)
Liliopsida Os02g0804300 34
  • 57.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6763 35
  • 58 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00777 34
  • 56.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC26A3.06 34
  • 50.13 (n)
Species where no ortholog for WBSCR22 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 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
rs1001220 -- 73,696,273(-) GAATG(A/G)ACTAG intron-variant
rs10227846 -- 73,684,902(+) ctggg(C/G)gacag intron-variant, upstream-variant-2KB
rs10243174 -- 73,684,688(+) gaggc(C/T)gaggc intron-variant, upstream-variant-2KB
rs10256701 -- 73,684,617(+) AAAAA(A/G)GGGGG intron-variant, upstream-variant-2KB
rs10479665 -- 73,694,594(+) ctgac(A/G)attct intron-variant

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

Variant ID Type Subtype PubMed ID
nsv469841 CNV loss 16826518
nsv831028 CNV loss 17160897

Variation tolerance for WBSCR22 Gene

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)

Relevant External Links for WBSCR22 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WBSCR22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WBSCR22 Gene

Disorders for WBSCR22 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WBSCR22 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards

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. {ECO:0000305 PubMed:11978965}.

Relevant External Links for WBSCR22

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WBSCR22
genes like me logo Genes that share disorders with WBSCR22: view

No data available for Genatlas for WBSCR22 Gene

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 22 64
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4 64
  3. 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 64
  4. 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 64
  5. The novel metastasis promoter Merm1/Wbscr22 enhances tumor cell survival in the vasculature by suppressing Zac1/p53-dependent apoptosis. (PMID: 21148752) Nakazawa Y. … Fujita N. (Cancer Res. 2011) 2 3 64

Products for WBSCR22 Gene

Sources for WBSCR22 Gene

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