METTL2B methyltransferase 2B, tRNA N3-cytidine [Homo sapiens (human)] - Gene

Summary

Official Symbol: METTL2Bprovided by HGNC
Official Full Name: methyltransferase 2B, tRNA N3-cytidineprovided by HGNC
Primary source: HGNC:HGNC:18272
See related: Ensembl:ENSG00000165055 MIM:607846; AllianceGenome:HGNC:18272
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: METL; METTL2; METTL2A; PSENIP1
Summary: This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 7.8), fat (RPKM 7.8) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 7q32.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (128476748..128506602)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (129788533..129818408)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (128116802..128146656)

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 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?

Mutually exclusive substrate selection strategy by human m3C RNA transferases METTL2A and METTL6.
Title: Mutually exclusive substrate selection strategy by human m3C RNA transferases METTL2A and METTL6.

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

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

RH69532 (e-PCR)
- UniSTS:88839

L17688 (e-PCR)
- UniSTS:74509

GDB:434012 (e-PCR)
- UniSTS:157204

GDB:4585159 (e-PCR)
- UniSTS:538

sY3084 (e-PCR)
- UniSTS:515126

NoName (e-PCR)
- UniSTS:489019

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

D16S325 (e-PCR)
- UniSTS:147089

METTL2__6308 (e-PCR)
- UniSTS:464050

RH69392 (e-PCR)
- UniSTS:89024

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA (cytidine) methyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables tRNA (cytidine-3-)-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tRNA (cytidine-3-)-methyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in tRNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA methylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tRNA N(3)-methylcytidine methyltransferase METTL2B

Names: methyltransferase 2B, methylcytidine; methyltransferase like 2B; methyltransferase-like protein 2B

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.