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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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    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)

    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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