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CMTR2 cap methyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 55783, updated on 11-Apr-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
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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

Expression

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  • 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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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 
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

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