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Aliases for METTL27 Gene

Aliases for METTL27 Gene

  • Methyltransferase Like 27 2 3
  • Williams Beuren Syndrome Chromosome Region 27 2 3 5
  • WBSCR27 3 4 5
  • Williams-Beuren Syndrome Chromosomal Region 27 Protein 3

External Ids for METTL27 Gene

Previous HGNC Symbols for METTL27 Gene

  • WBSCR27

Summaries for METTL27 Gene

Entrez Gene Summary for METTL27 Gene

  • This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]

GeneCards Summary for METTL27 Gene

METTL27 (Methyltransferase Like 27) is a Protein Coding gene. Diseases associated with METTL27 include Williams-Beuren Syndrome.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for METTL27 Gene

Genomics for METTL27 Gene

Regulatory Elements for METTL27 Gene

Enhancers for METTL27 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
GH07G073821 1.9 FANTOM5 Ensembl ENCODE dbSUPER 87.3 +19.6 19552 3.1 HDGF PKNOX1 ATF1 ARNT SIN3A GLIS2 CBX5 GATA2 ELK1 FOS METTL27 VPS37D ABHD11-AS1 CLDN4 CLDN3 GC07P073835
GH07G073849 1.9 FANTOM5 Ensembl ENCODE dbSUPER 77.6 -8.4 -8421 3.9 PKNOX1 ARNT SIN3A FEZF1 ZNF766 FOS DEK ZNF263 SP3 JUNB METTL27 ELN BUD23 DNAJC30 VPS37D BCL7B GC07M073847 TMEM270
GH07G073825 1.6 Ensembl ENCODE dbSUPER 90.6 +12.6 12599 8.4 HDGF PKNOX1 FOXA2 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B METTL27 TMEM270 DNAJC30 BUD23 VPS37D ABHD11-AS1 ABHD11 GC07P073835 CLDN4
GH07G073736 2.1 FANTOM5 Ensembl ENCODE dbSUPER 53.9 +101.8 101811 7.8 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 METTL27 ABHD11-AS1 MIR590 ABHD11 CLDN4 STX1A MLXIPL CLDN3 TBL2 BAZ1B
GH07G073841 1.2 ENCODE dbSUPER 90.4 +0.3 286 1.8 TBP HDGF PKNOX1 FOXA2 ARID4B DMAP1 ZNF48 GATA4 EGR1 SCRT2 METTL27 VPS37D ABHD11 GC07P073835
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around METTL27 on UCSC Golden Path with GeneCards custom track

Promoters for METTL27 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213518 -65 1201 TBP HDGF PKNOX1 FOXA2 ARID4B DMAP1 RAD21 ZNF48 GATA4 EGR1

Genomic Location for METTL27 Gene

Chromosome:
7
Start:
73,834,590 bp from pter
End:
73,842,535 bp from pter
Size:
7,946 bases
Orientation:
Minus strand

Genomic View for METTL27 Gene

Genes around METTL27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
METTL27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for METTL27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for METTL27 Gene

Proteins for METTL27 Gene

  • Protein details for METTL27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6F8-WBS27_HUMAN
    Recommended name:
    Williams-Beuren syndrome chromosomal region 27 protein
    Protein Accession:
    Q8N6F8

    Protein attributes for METTL27 Gene

    Size:
    245 amino acids
    Molecular mass:
    26522 Da
    Quaternary structure:
    No Data Available

neXtProt entry for METTL27 Gene

Post-translational modifications for METTL27 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for METTL27 Gene

No data available for DME Specific Peptides for METTL27 Gene

Domains & Families for METTL27 Gene

Protein Domains for METTL27 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with METTL27: view

No data available for UniProtKB/Swiss-Prot for METTL27 Gene

Function for METTL27 Gene

Gene Ontology (GO) - Molecular Function for METTL27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25814554
genes like me logo Genes that share ontologies with METTL27: view

Phenotypes for METTL27 Gene

genes like me logo Genes that share phenotypes with METTL27: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for METTL27 Gene

Localization for METTL27 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for METTL27 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for METTL27 Gene

Pathways & Interactions for METTL27 Gene

SuperPathways for METTL27 Gene

No Data Available

Gene Ontology (GO) - Biological Process for METTL27 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for METTL27 Gene

Drugs & Compounds for METTL27 Gene

No Compound Related Data Available

Transcripts for METTL27 Gene

mRNA/cDNA for METTL27 Gene

(3) REFSEQ mRNAs :
(12) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for METTL27 Gene

No ASD Table

Relevant External Links for METTL27 Gene

GeneLoc Exon Structure for
METTL27
ECgene alternative splicing isoforms for
METTL27

Expression for METTL27 Gene

NURSA nuclear receptor signaling pathways regulating expression of METTL27 Gene:

METTL27
No Expression Related Data Available

Primer Products

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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for METTL27 Gene

Orthologs for METTL27 Gene

This gene was present in the common ancestor of chordates.

Orthologs for METTL27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WBSCR27 35 34
  • 98.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WBSCR27 34 35
  • 86.6 (n)
dog
(Canis familiaris)
Mammalia WBSCR27 34 35
  • 84.85 (n)
mouse
(Mus musculus)
Mammalia Wbscr27 35 34
  • 80.13 (n)
OneToOne
Mettl27 16
rat
(Rattus norvegicus)
Mammalia Wbscr27 34
  • 80.13 (n)
oppossum
(Monodelphis domestica)
Mammalia WBSCR27 35
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WBSCR27 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves WBSCR27 34 35
  • 64.58 (n)
lizard
(Anolis carolinensis)
Reptilia WBSCR27 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr27 34
  • 54.59 (n)
zebrafish
(Danio rerio)
Actinopterygii wbscr27 34 35
  • 52.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
-- 35
  • 22 (a)
OneToMany
-- 35
  • 20 (a)
OneToMany
Species where no ortholog for METTL27 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for METTL27 Gene

ENSEMBL:
Gene Tree for METTL27 (if available)
TreeFam:
Gene Tree for METTL27 (if available)

Paralogs for METTL27 Gene

No data available for Paralogs for METTL27 Gene

Variants for METTL27 Gene

Sequence variations from dbSNP and Humsavar for METTL27 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000083575 -- 73,838,999(+) TGGAG(A/C)AGGAC intron-variant, nc-transcript-variant
rs1002087256 -- 73,841,730(+) GCCTC(C/G)GCCTC intron-variant
rs1002184993 -- 73,834,553(+) GCTAC(A/G)TCTCG downstream-variant-500B
rs1002544397 -- 73,841,431(+) ACCTT(C/G)TCTCC intron-variant
rs1002643186 -- 73,837,337(+) AGTCA(A/G)TCAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for METTL27 Gene

Variant ID Type Subtype PubMed ID
nsv831029 CNV loss 17160897

Variation tolerance for METTL27 Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for METTL27 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
METTL27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for METTL27 Gene

Disorders for METTL27 Gene

MalaCards: The human disease database

(1) MalaCards diseases for METTL27 Gene - From: GeneCards

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

UniProtKB/Swiss-Prot

WBS27_HUMAN
  • Note=WBSCR27 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 WBSCR27 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269 Ref.1}.

Relevant External Links for METTL27

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
METTL27
genes like me logo Genes that share disorders with METTL27: view

No data available for Genatlas for METTL27 Gene

Publications for METTL27 Gene

  1. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (PMID: 18398435) Micale L. … Reymond A. (Eur. J. Hum. Genet. 2008) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. (PMID: 10329018) Osborne L.R. (Mol. Genet. Metab. 1999) 2 3 64
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 64

Products for METTL27 Gene

Sources for METTL27 Gene

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