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Aliases for BMT2 Gene

Aliases for BMT2 Gene

  • Base Methyltransferase Of 25S RRNA 2 Homolog 2 3 5
  • C7orf60 3 4
  • Probable Methyltransferase BMT2 Homolog 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

  • Probable S-adenosyl-L-methionine-dependent methyltransferase.

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

Regulatory Elements for BMT2 Gene

Enhancers for BMT2 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
GH07H112021 0.6 ENCODE 5.1 +917.6 917621 1 TFAP4 KLF1 GLIS1 ZIC2 SP7 TRIM28 BMT2 GC07P112024 RPL7AP42
GH07H112959 0.3 FANTOM5 5.6 -19.5 -19547 0 BMT2 HRAT17
GH07H112877 0.5 FANTOM5 ENCODE 1.8 +62.0 62047 0 IFRD1 BMT2 TMEM168
GH07H112938 1.1 ENCODE 0.7 +0.4 397 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS SMIM30 TMEM168 BMT2
GH07H112898 1.2 Ensembl ENCODE 0.3 +41.1 41129 0 ELF3 FOXA2 ATF1 RB1 MLX ARNT ARID4B DNMT3B THRB RAD21 TMEM168 BMT2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BMT2 on UCSC Golden Path with GeneCards custom track

Promoters for BMT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000216886 416 2201 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS

Genomic Location for BMT2 Gene

Chromosome:
7
Start:
112,819,147 bp from pter
End:
112,939,916 bp from pter
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-BMT2_HUMAN
    Recommended name:
    Probable methyltransferase BMT2 homolog
    Protein Accession:
    Q1RMZ1
    Secondary Accessions:
    • Q8N3D0
    • Q96MV7

    Protein attributes for BMT2 Gene

    Size:
    405 amino acids
    Molecular mass:
    46324 Da
    Quaternary structure:
    No Data Available
    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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BMT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q1RMZ1

UniProtKB/Swiss-Prot:

BMT2_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:
Probable S-adenosyl-L-methionine-dependent methyltransferase.

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 IBA,IEA --
GO:0016740 transferase activity IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BMT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 --
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-BMT2_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 --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BMT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

NURSA nuclear receptor signaling pathways regulating expression of BMT2 Gene:

BMT2
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 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 33 34
  • 89.5 (n)
Bmt2 16
chicken
(Gallus gallus)
Aves C1H7ORF60 33 34
  • 80.89 (n)
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 33 34
  • 43.37 (n)
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 Sequence Context AA Info Type
rs1000009180 -- 112,832,831(+) TATCT(A/G)TTAAT intron-variant
rs1000052753 -- 112,924,116(+) TGCAG(C/T)ACACC intron-variant
rs1000068145 -- 112,845,114(+) TAAAT(A/G)TAAAA intron-variant
rs1000099314 -- 112,912,673(+) TACTT(A/C)TGATA intron-variant
rs1000182179 -- 112,924,423(+) GTCTA(A/G)TAAGT 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)

Relevant External Links for BMT2 Gene

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

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

Disorders for BMT2 Gene

Relevant External Links for BMT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMT2

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. 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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. 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 60
  5. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PMID: 18951430) Anney RJ … Gill M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 60

Products for BMT2 Gene

Sources for BMT2 Gene

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