NTMT2

N-terminal Xaa-Pro-Lys N-methyltransferase 2, the group of MicroRNA protein coding host genes|7BS protein methyltransferases

Basic information

Region (hg38): 1:170145959-170168866

Previous symbols: [ "C1orf184", "METTL11B" ]

Links

ENSG00000203740NCBI:149281HGNC:31932Uniprot:Q5VVY1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NTMT2 gene.

  • not_specified (36 variants)
  • Marfanoid_habitus_and_intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NTMT2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001136107.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
37
clinvar
37
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 37 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NTMT2protein_codingprotein_codingENST00000439373 421790
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.004420.88100000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6431271490.8520.000007731877
Missense in Polyphen4757.3410.81966713
Synonymous1.714056.30.7100.00000304518
Loss of Function1.3459.440.5304.83e-7121

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]- Pro-Lys when the initiator Met is cleaved. Specifically catalyzes monomethylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and Pro in the Pro-Pro-Lys motif. May activate NTMT1 by priming its substrates for trimethylation. {ECO:0000269|PubMed:24090352}.;

Intolerance Scores

loftool
rvis_EVS
1.66
rvis_percentile_EVS
96.23

Haploinsufficiency Scores

pHI
0.604
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.198

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mettl11b
Phenotype

Gene ontology

Biological process
N-terminal protein amino acid methylation
Cellular component
nucleus;cytoplasm
Molecular function
N-terminal protein N-methyltransferase activity