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Aliases for BMT2 Gene

Aliases for BMT2 Gene

  • Base Methyltransferase Of 25S RRNA 2 Homolog 2 3 5
  • Probable Methyltransferase BMT2 Homolog 3 4
  • C7orf60 3 4
  • SAMTOR 3 4
  • S-Adenosylmethionine Sensor Upstream Of MTORC1 3
  • Probable Methyltransferase BTM2 Homolog 3
  • Chromosome 7 Open Reading Frame 60 2
  • Hypothetical Protein FLJ31818 2
  • UPF0532 Protein C7orf60 3
  • EC 2.1.1.- 4

External Ids for BMT2 Gene

Previous HGNC Symbols for BMT2 Gene

  • C7orf60

Summaries for BMT2 Gene

GeneCards Summary for BMT2 Gene

BMT2 (Base Methyltransferase Of 25S RRNA 2 Homolog) is a Protein Coding gene.

UniProtKB/Swiss-Prot for BMT2 Gene

  • S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes (PubMed:29123071). Acts as a sensor of S-adenosyl-L-methionine to signal methionine sufficiency to mTORC1: in presence of methionine, binds S-adenosyl-L-methionine, leading to disrupt interaction with the GATOR1 and KICSTOR complexes and promote mTORC1 signaling (PubMed:29123071). Upon methionine starvation, S-adenosyl-L-methionine levels are reduced, thereby promoting the association with GATOR1 and KICSTOR, leading to inhibit mTORC1 signaling (PubMed:29123071). Probably also acts as a S-adenosyl-L-methionine-dependent methyltransferase (Potential).

Additional gene information for BMT2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMT2 Gene

Genomics for BMT2 Gene

GeneHancer (GH) Regulatory Elements for BMT2 Gene

Promoters and enhancers for BMT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J112938 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.4 397 2.9 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B BMT2 SMIM30 TMEM168
GH07J112994 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 650.2 -55.7 -55694 3.1 JUND ZNF316 EMSY HRAT17 BMT2 ENSG00000225457
GH07J112021 Enhancer 0.5 ENCODE 5.1 +917.6 917621 1 KLF1 TFAP4 GLIS1 ZIC2 SP7 TRIM28 BMT2 GC07P112024 RPL7AP42 DOCK4
GH07J112959 Enhancer 0.2 FANTOM5 5.6 -19.5 -19547 0.2 BMT2 HRAT17
GH07J112877 Enhancer 0.4 FANTOM5 ENCODE 1.8 +62.0 62046 0.2 IFRD1 BMT2 TMEM168
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMT2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BMT2 Gene

Genomic Locations for BMT2 Gene
chr7:112,819,147-112,939,916
(GRCh38/hg38)
Size:
120,770 bases
Orientation:
Minus strand
chr7:112,459,202-112,579,971
(GRCh37/hg19)
Size:
120,770 bases
Orientation:
Minus strand

Genomic View for BMT2 Gene

Genes around BMT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMT2 Gene

Proteins for BMT2 Gene

  • Protein details for BMT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q1RMZ1-SAMTR_HUMAN
    Recommended name:
    S-adenosylmethionine sensor upstream of mTORC1
    Protein Accession:
    Q1RMZ1
    Secondary Accessions:
    • Q8N3D0
    • Q96MV7

    Protein attributes for BMT2 Gene

    Size:
    405 amino acids
    Molecular mass:
    46324 Da
    Quaternary structure:
    • Interacts with the GATOR1 complex; interaction is disrupted when BMT2/SAMTOR binds S-adenosyl-L-methionine (PubMed:29123071). Interacts with the KICSTOR complex; interaction is disrupted when BMT2/SAMTOR binds S-adenosyl-L-methionine (PubMed:29123071).
    SequenceCaution:
    • Sequence=BAB71169.1; Type=Frameshift; Positions=259; Evidence={ECO:0000305};

neXtProt entry for BMT2 Gene

Post-translational modifications for BMT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BMT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BMT2 Gene

Domains & Families for BMT2 Gene

Gene Families for BMT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BMT2 Gene

Suggested Antigen Peptide Sequences for BMT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q1RMZ1

UniProtKB/Swiss-Prot:

SAMTR_HUMAN :
  • Belongs to the BMT2 family.
Family:
  • Belongs to the BMT2 family.
genes like me logo Genes that share domains with BMT2: view

Function for BMT2 Gene

Molecular function for BMT2 Gene

UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes (PubMed:29123071). Acts as a sensor of S-adenosyl-L-methionine to signal methionine sufficiency to mTORC1: in presence of methionine, binds S-adenosyl-L-methionine, leading to disrupt interaction with the GATOR1 and KICSTOR complexes and promote mTORC1 signaling (PubMed:29123071). Upon methionine starvation, S-adenosyl-L-methionine levels are reduced, thereby promoting the association with GATOR1 and KICSTOR, leading to inhibit mTORC1 signaling (PubMed:29123071). Probably also acts as a S-adenosyl-L-methionine-dependent methyltransferase (Potential).

Enzyme Numbers (IUBMB) for BMT2 Gene

Gene Ontology (GO) - Molecular Function for BMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0016433 rRNA (adenine) methyltransferase activity IEA,IBA --
GO:0016740 transferase activity IEA --
GO:1904047 S-adenosyl-L-methionine binding IDA 29123071
genes like me logo Genes that share ontologies with BMT2: view
genes like me logo Genes that share phenotypes with BMT2: view

Animal Model Products

Clone Products

  • Addgene plasmids for BMT2

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BMT2 Gene

Localization for BMT2 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 BMT2 gene
Compartment Confidence
nucleus 4
cytosol 4
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IBA --
GO:0140007 colocalizes_with KICSTOR complex IDA 29123071
GO:1990130 colocalizes_with GATOR1 complex IDA 29123071
genes like me logo Genes that share ontologies with BMT2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BMT2 Gene

Pathways & Interactions for BMT2 Gene

No Data Available

Interacting Proteins for BMT2 Gene

Selected Interacting proteins: Q1RMZ1-SAMTR_HUMAN for BMT2 Gene via IID

Symbol External ID(s) Details
FTMT
RPE

Gene Ontology (GO) - Biological Process for BMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031167 rRNA methylation IEA --
GO:0032259 methylation IEA --
GO:0034198 cellular response to amino acid starvation IDA 29123071
GO:1904262 negative regulation of TORC1 signaling IDA 29123071
genes like me logo Genes that share ontologies with BMT2: view

No data available for Pathways by source and SIGNOR curated interactions for BMT2 Gene

Drugs & Compounds for BMT2 Gene

No Compound Related Data Available

Transcripts for BMT2 Gene

mRNA/cDNA for BMT2 Gene

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

Clone Products

  • Addgene plasmids for BMT2

Alternative Splicing Database (ASD) splice patterns (SP) for BMT2 Gene

No ASD Table

Relevant External Links for BMT2 Gene

GeneLoc Exon Structure for
BMT2
ECgene alternative splicing isoforms for
BMT2

Expression for BMT2 Gene

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 BMT2 Gene

Orthologs for BMT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C7orf60 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C7orf60 34
  • 97 (a)
OneToOne
C14H7orf60 33
  • 94.24 (n)
cow
(Bos Taurus)
Mammalia C7orf60 34
  • 96 (a)
OneToOne
C4H7orf60 33
  • 95.14 (n)
oppossum
(Monodelphis domestica)
Mammalia C7orf60 34
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C7orf60 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC500034 33
  • 90.16 (n)
mouse
(Mus musculus)
Mammalia B630005N14Rik 34 33
  • 89.5 (n)
OneToOne
Bmt2 16
chicken
(Gallus gallus)
Aves C1H7ORF60 34 33
  • 80.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C7orf60 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c7orf60 33
  • 72.92 (n)
Str.2026 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7372 33
zebrafish
(Danio rerio)
Actinopterygii C25H7orf60 34
  • 71 (a)
OneToOne
zgc:153606 33
  • 68.36 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.858 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008978 33
  • 47.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3570 34 33
  • 43.37 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for BMT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 BMT2 Gene

ENSEMBL:
Gene Tree for BMT2 (if available)
TreeFam:
Gene Tree for BMT2 (if available)

Paralogs for BMT2 Gene

No data available for Paralogs for BMT2 Gene

Variants for BMT2 Gene

Sequence variations from dbSNP and Humsavar for BMT2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000009180 -- 112,832,831(-) A/G intron_variant
rs1000052753 -- 112,924,116(-) C/T intron_variant
rs1000068145 -- 112,845,114(-) G/A intron_variant
rs1000099314 -- 112,912,673(-) C/A intron_variant
rs1000182179 -- 112,924,423(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BMT2 Gene

Variant ID Type Subtype PubMed ID
dgv1129n67 CNV loss 20364138
dgv1323e214 CNV gain 21293372
dgv1951e212 CNV gain 25503493
dgv6589n100 CNV gain 25217958
dgv6590n100 CNV gain 25217958
esv2421832 CNV deletion 20811451
esv2422365 CNV duplication 17116639
esv2665494 CNV deletion 23128226
esv2735042 CNV deletion 23290073
esv2735043 CNV deletion 23290073
esv2752144 CNV gain 17911159
esv2752145 CNV gain 17911159
esv2759556 CNV gain 17122850
esv3572078 CNV loss 25503493
esv3614634 CNV loss 21293372
esv3614635 CNV loss 21293372
esv3614636 CNV loss 21293372
esv3614637 CNV gain 21293372
esv3614638 CNV gain 21293372
nsv1034863 CNV gain 25217958
nsv442063 CNV loss 18776908
nsv464689 CNV gain 19166990
nsv483110 CNV loss 15286789
nsv499470 CNV loss 21111241
nsv514443 CNV loss 21397061
nsv5905 CNV deletion 18451855
nsv608200 CNV gain 21841781
nsv608226 CNV gain 21841781
nsv7405 OTHER inversion 18451855

Variation tolerance for BMT2 Gene

Residual Variation Intolerance Score: 22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMT2 Gene

Human Gene Mutation Database (HGMD)
BMT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMT2 Gene

Disorders for BMT2 Gene

No disorders were found for BMT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BMT2 Gene

Publications for BMT2 Gene

  1. SAMTOR is an S-adenosylmethionine sensor for the mTORC1 pathway. (PMID: 29123071) Gu X … Sabatini DM (Science (New York, N.Y.) 2017) 3 4 58
  2. Identification of a novel methyltransferase, Bmt2, responsible for the N-1-methyl-adenosine base modification of 25S rRNA in Saccharomyces cerevisiae. (PMID: 23558746) Sharma S … Entian KD (Nucleic acids research 2013) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58

Products for BMT2 Gene

Sources for BMT2 Gene

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