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METTL2A methyltransferase 2A, tRNA N3-cytidine [ Homo sapiens (human) ]

Gene ID: 339175, updated on 2-Nov-2024

Summary

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Official Symbol
METTL2Aprovided by HGNC
Official Full Name
methyltransferase 2A, tRNA N3-cytidineprovided by HGNC
Primary source
HGNC:HGNC:25755
See related
Ensembl:ENSG00000087995 MIM:618902; AllianceGenome:HGNC:25755
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
METTL2
Summary
Enables tRNA (cytidine-3-)-methyltransferase activity. Involved in tRNA methylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 6.2), thyroid (RPKM 6.2) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See METTL2A in Genome Data Viewer
Location:
17q23.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (62423897..62453385)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (63293823..63323315)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (60501258..60530746)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene EF-hand calcium binding domain 3 Neighboring gene RNA, U7 small nuclear 52 pseudogene Neighboring gene ribosomal protein S23 pseudogene 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:60500991-60501521 Neighboring gene uncharacterized LOC112268200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:60541227-60541728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:60541729-60542228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8808 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:60562255-60562754 Neighboring gene tousled like kinase 2 Neighboring gene MPRA-validated peak2934 silencer Neighboring gene ribosomal protein S10 pseudogene 26

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Integrative analysis of m3C associated genes reveals METTL2A as a potential oncogene in breast Cancer. Wang S, et al. J Transl Med, 2022 Oct 20. PMID 36266694, Free PMC Article
  2. DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification. Lentini JM, et al. Nat Commun, 2020 May 19. PMID 32427860, Free PMC Article
  3. Mutually exclusive substrate selection strategy by human m3C RNA transferases METTL2A and METTL6. Mao XL, et al. Nucleic Acids Res, 2021 Aug 20. PMID 34268557, Free PMC Article
  4. Identification of a novel family of putative methyltransferases that interact with human and Drosophila presenilins. Zhang SX, et al. Gene, 2001 Dec 12. PMID 11738826
  5. Three distinct 3-methylcytidine (m(3)C) methyltransferases modify tRNA and mRNA in mice and humans. Xu L, et al. J Biol Chem, 2017 Sep 1. PMID 28655767, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Integrative analysis of m3C associated genes reveals METTL2A as a potential oncogene in breast Cancer.
    Title: Integrative analysis of m3C associated genes reveals METTL2A as a potential oncogene in breast Cancer.
  2. 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.
  3. Data, including data from studies using mutant/knockout mice and cell lines from such mice, suggest that METTL2 and METTL6 (but not METTL8) contribute to post-transcriptional methylation of cytidine (formation of 3-methylcytidine) in tRNA; METTL2 methylates tRNA(Thr) and tRNA(Arg); METTL6 interacts with seryl-tRNA synthetase and methylates tRNA(Ser); METTL8 catalyzes post-transcriptional methylation of cytidine in mRNA.
    Title: Three distinct 3-methylcytidine (m(3)C) methyltransferases modify tRNA and mRNA in mice and humans.
Submit: New GeneRIF Correction

Phenotypes

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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12760

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables tRNA (cytidine-3-)-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables tRNA (cytidine-3-)-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tRNA modification IDA
Inferred from Direct Assay
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 METTL2A
Names
methyltransferase 2A, methylcytidine
methyltransferase like 2A
methyltransferase-like protein 2A

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_181725.4 → NP_859076.3  tRNA N(3)-methylcytidine methyltransferase METTL2A

    See identical proteins and their annotated locations for NP_859076.3

    Status: VALIDATED

    Source sequence(s)
    AC008026, AK022822, BC006985, BP255803, DA027807
    Consensus CDS
    CCDS45752.1
    UniProtKB/Swiss-Prot
    A6NNC4, Q96IZ6, Q9H9G9, Q9NUI8, Q9P0B5
    UniProtKB/TrEMBL
    A0A087WW35
    Related
    ENSP00000309610.6, ENST00000311506.10
    Conserved Domains (1) summary
    pfam13649
    Location:184 → 286
    Methyltransf_25; Methyltransferase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    62423897..62453385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    63293823..63323315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001005372.1: Suppressed sequence

    Description
    NM_001005372.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96IZ6.5 GenPept UniProtKB/Swiss-Prot:Q96IZ6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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