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BMT2 base methyltransferase of 25S rRNA 2 homolog [ Homo sapiens (human) ]

Gene ID: 154743, updated on 29-Oct-2022

Summary

Official Symbol
BMT2provided by HGNC
Official Full Name
base methyltransferase of 25S rRNA 2 homologprovided by HGNC
Primary source
HGNC:HGNC:26475
See related
Ensembl:ENSG00000164603 MIM:617855; AllianceGenome:HGNC:26475
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAMTOR; C7orf60
Summary
Enables S-adenosyl-L-methionine binding activity. Involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Colocalizes with GATOR1 complex and KICSTOR complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 5.8), heart (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

See BMT2 in Genome Data Viewer
Location:
7q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (112819147..112939875, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (114138029..114258806, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (112459202..112579930, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane protein 168 Neighboring gene uncharacterized LOC124901729 Neighboring gene heart tissue-associated transcript 17 Neighboring gene G protein-coupled receptor 85

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31818

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables S-adenosyl-L-methionine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cellular response to amino acid starvation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of TORC1 signaling IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
S-adenosylmethionine sensor upstream of mTORC1
Names
UPF0532 protein C7orf60
probable methyltransferase BMT2 homolog
probable methyltransferase BTM2 homolog
NP_689769.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_152556.3NP_689769.2  S-adenosylmethionine sensor upstream of mTORC1

    See identical proteins and their annotated locations for NP_689769.2

    Status: VALIDATED

    Source sequence(s)
    AK056380, AL834437, BC114615, DA738444
    Consensus CDS
    CCDS43634.1
    UniProtKB/Swiss-Prot
    Q1RMZ1, Q96MV7
    Related
    ENSP00000297145.4, ENST00000297145.9

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    112819147..112939875 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    114138029..114258806 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)