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

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: mouse all
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Genomic context

Location:: 7q31.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (112819147..112939875, complement)
RS_2023_10	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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SAMTOR is a S-adenosylmethionine sensor that links methionine and one-carbon metabolism to mTORC1 signaling.
Title: SAMTOR is an S-adenosylmethionine sensor for the mTORC1 pathway.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:490013

G17120 (e-PCR)
- UniSTS:45137

D7S2885 (e-PCR)
- UniSTS:19595

NoName (e-PCR)
- UniSTS:487615

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 cellular response to methionine	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
involved_in positive regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in 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

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Preferred Names: S-adenosylmethionine sensor upstream of mTORC1

Names: UPF0532 protein C7orf60; probable methyltransferase BMT2 homolog; probable methyltransferase BTM2 homolog

NP_689769.2

EC 2.1.1.-

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.