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    CMTR2 cap methyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 55783, updated on 2-May-2024

    Summary

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    Official Symbol
    CMTR2provided by HGNC
    Official Full Name
    cap methyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:25635
    See related
    Ensembl:ENSG00000180917 MIM:616190; AllianceGenome:HGNC:25635
    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
    AFT; MTr2; HMTr2; FTSJD1
    Summary
    Enables mRNA (nucleoside-2'-O-)-methyltransferase activity. Involved in 7-methylguanosine mRNA capping and cap2 mRNA methylation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.6), testis (RPKM 6.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16q22.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (71281392..71289722, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77092514..77100845, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71315295..71323625, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene VAC14 component of PIKFYVE complex Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70834747-70835369 Neighboring gene tRNA-Gly (anticodon GCC) 2-5 Neighboring gene RNA, U6atac small nuclear 25, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4373 Neighboring gene HYDIN axonemal central pair apparatus protein Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71020999-71022198 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71042849-71044048 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:71061796-71062512 Neighboring gene Sharpr-MPRA regulatory region 1178 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:71113179-71114378 Neighboring gene Sharpr-MPRA regulatory region 1449 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:71195224-71195424 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:71289688-71289924 Neighboring gene uncharacterized LOC102723786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7676 Neighboring gene uncharacterized LOC102725168 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:71371582-71372781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:71392357-71393322 Neighboring gene Sharpr-MPRA regulatory region 14967 Neighboring gene uncharacterized LOC105371332 Neighboring gene Sharpr-MPRA regulatory region 5468 Neighboring gene calbindin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. 2'-O-ribose methylation of cap2 in human: function and evolution in a horizontally mobile family. Werner M, et al. Nucleic Acids Res, 2011 Jun. PMID 21310715, Free PMC Article
    2. Structural analysis of human 2'-O-ribose methyltransferases involved in mRNA cap structure formation. Smietanski M, et al. Nat Commun, 2014. PMID 24402442, Free PMC Article
    3. Gene essentiality and synthetic lethality in haploid human cells. Blomen VA, et al. Science, 2015 Nov 27. PMID 26472760
    4. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11171

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA (nucleoside-2'-O-)-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA (nucleoside-2'-O-)-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 7-methylguanosine mRNA capping IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 7-methylguanosine mRNA capping IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2
    Names
    FtsJ methyltransferase domain containing 1
    adrift homolog
    cap2 2'O-ribose methyltransferase 2
    ftsJ methyltransferase domain-containing protein 1
    protein adrift homolog
    NP_001093112.1
    NP_001311303.1
    NP_001311306.1
    NP_001311307.1
    NP_001311308.1
    NP_060818.4
    XP_011521530.1
    XP_011521531.1
    XP_016878933.1
    XP_047290319.1
    XP_047290320.1
    XP_054169443.1
    XP_054169444.1
    XP_054169445.1
    XP_054169446.1
    XP_054187854.1
    XP_054187855.1
    XP_054187856.1
    XP_054187857.1

    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.

    mRNA and Protein(s)

    1. NM_001099642.2 → NP_001093112.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2

      See identical proteins and their annotated locations for NP_001093112.1

      Status: VALIDATED

      Source sequence(s)
      AA968997, AC106736, BC034468, DB240113
      Consensus CDS
      CCDS10898.1
      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5
      Conserved Domains (1) summary
      pfam01728
      Location:114 → 320
      FtsJ; FtsJ-like methyltransferase

    2. NM_001324374.2 → NP_001311303.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2

      Status: VALIDATED

      Source sequence(s)
      AC106736, BC035005, BX648660
      Consensus CDS
      CCDS10898.1
      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5
      Related
      ENSP00000337512.5, ENST00000338099.9
      Conserved Domains (1) summary
      pfam01728
      Location:114 → 320
      FtsJ; FtsJ-like methyltransferase

    3. NM_001324377.2 → NP_001311306.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2

      Status: VALIDATED

      Source sequence(s)
      AC106736, BC034468, BU429551, BX648660
      Consensus CDS
      CCDS10898.1
      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5
      Conserved Domains (1) summary
      pfam01728
      Location:114 → 320
      FtsJ; FtsJ-like methyltransferase

    4. NM_001324378.2 → NP_001311307.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2

      Status: VALIDATED

      Source sequence(s)
      AC106736, BC034468, BX648660, DB094020
      Consensus CDS
      CCDS10898.1
      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5
      Conserved Domains (1) summary
      pfam01728
      Location:114 → 320
      FtsJ; FtsJ-like methyltransferase

    5. NM_001324379.2 → NP_001311308.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2

      Status: VALIDATED

      Source sequence(s)
      AC106736, BX648660
      Consensus CDS
      CCDS10898.1
      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5
      Conserved Domains (1) summary
      pfam01728
      Location:114 → 320
      FtsJ; FtsJ-like methyltransferase

    6. NM_018348.6 → NP_060818.4  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2

      See identical proteins and their annotated locations for NP_060818.4

      Status: VALIDATED

      Source sequence(s)
      AA968997, AC106736, BC034468, BC035005, DB227997
      Consensus CDS
      CCDS10898.1
      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5
      Related
      ENSP00000411148.2, ENST00000434935.7
      Conserved Domains (1) summary
      pfam01728
      Location:114 → 320
      FtsJ; FtsJ-like methyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      71281392..71289722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023444.2 → XP_016878933.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5
      Conserved Domains (1) summary
      pfam01728
      Location:114 → 320
      FtsJ; FtsJ-like methyltransferase

    2. XM_047434364.1 → XP_047290320.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5

    3. XM_011523228.2 → XP_011521530.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

      See identical proteins and their annotated locations for XP_011521530.1

      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5
      Conserved Domains (1) summary
      pfam01728
      Location:114 → 320
      FtsJ; FtsJ-like methyltransferase

    4. XM_011523229.2 → XP_011521531.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

      See identical proteins and their annotated locations for XP_011521531.1

      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5
      Conserved Domains (1) summary
      pfam01728
      Location:114 → 320
      FtsJ; FtsJ-like methyltransferase

    5. XM_047434363.1 → XP_047290319.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RCD5, D3DWS1, Q8IYT2, Q8NE77, Q8NFR5, Q9H8Z4, Q9NUS3, Q9NXF5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_013171813.1 Reference GRCh38.p14 PATCHES

      Range
      144072..152420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331882.1 → XP_054187857.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

    2. XM_054331881.1 → XP_054187856.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

    3. XM_054331879.1 → XP_054187854.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

    4. XM_054331880.1 → XP_054187855.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      77092514..77100845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313470.1 → XP_054169445.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

    2. XM_054313471.1 → XP_054169446.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

    3. XM_054313468.1 → XP_054169443.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

    4. XM_054313469.1 → XP_054169444.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYT2.2 GenPept UniProtKB/Swiss-Prot:Q8IYT2

    Gene LinkOut

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

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