Seroatlas · Human Serome Atlas

NSUN2

RNA cytosine C(5)-methyltransferase NSUN2

Also known as: FLJ20303, Misu, MRT5, NSUN2_HUMAN, SAKI, TRM4

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q08J23
Gene: NSUN2
Ensembl: ENSG00000037474
Chromosome: 5
Canonical length: 767 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]

Canonical amino-acid sequenceUniProt

767 residues, UniProt reviewed canonical sequence.

>Q08J23|NSUN2
     1  MGRRSRGRRL QQQQRPEDAE DGAEGGGKRG EAGWEGGYPE IVKENKLFEH YYQELKIVPE
    61  GEWGQFMDAL REPLPATLRI TGYKSHAKEI LHCLKNKYFK ELEDLEVDGQ KVEVPQPLSW
   121  YPEELAWHTN LSRKILRKSP HLEKFHQFLV SETESGNISR QEAVSMIPPL LLNVRPHHKI
   181  LDMCAAPGSK TTQLIEMLHA DMNVPFPEGF VIANDVDNKR CYLLVHQAKR LSSPCIMVVN
   241  HDASSIPRLQ IDVDGRKEIL FYDRILCDVP CSGDGTMRKN IDVWKKWTTL NSLQLHGLQL
   301  RIATRGAEQL AEGGRMVYST CSLNPIEDEA VIASLLEKSE GALELADVSN ELPGLKWMPG
   361  ITQWKVMTKD GQWFTDWDAV PHSRHTQIRP TMFPPKDPEK LQAMHLERCL RILPHHQNTG
   421  GFFVAVLVKK SSMPWNKRQP KLQGKSAETR ESTQLSPADL TEGKPTDPSK LESPSFTGTG
   481  DTEIAHATED LENNGSKKDG VCGPPPSKKM KLFGFKEDPF VFIPEDDPLF PPIEKFYALD
   541  PSFPRMNLLT RTTEGKKRQL YMVSKELRNV LLNNSEKMKV INTGIKVWCR NNSGEEFDCA
   601  FRLAQEGIYT LYPFINSRII TVSMEDVKIL LTQENPFFRK LSSETYSQAK DLAKGSIVLK
   661  YEPDSANPDA LQCPIVLCGW RGKASIRTFV PKNERLHYLR MMGLEVLGEK KKEGVILTNE
   721  SAASTGQPDN DVTEGQRAGE PNSPDAEEAN SPDVTAGCDP AGVHPPR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NSUN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.34
Highest tissue expression: 39 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 39 nTPM
breast: 36 nTPM
tonsil: 35 nTPM
liver: 34 nTPM
lymph node: 32 nTPM
tongue: 28 nTPM

Single-cell type

basal keratinocytes: 60 nCPM
pituicytes/fscs: 56 nCPM
hepatocytes: 55 nCPM
suprabasal keratinocytes: 55 nCPM
adrenal cortex cells: 54 nCPM
erythrocyte progenitors: 54 nCPM

Immune cell

MAIT T-cell: 28 nTPM
memory CD8 T-cell: 25 nTPM
NK-cell: 24 nTPM
naive CD8 T-cell: 24 nTPM
naive CD4 T-cell: 23 nTPM
memory B-cell: 23 nTPM

Brain region

white matter: 20 nTPM
thalamus: 19 nTPM
choroid plexus: 19 nTPM
cerebral cortex: 18 nTPM
medulla oblongata: 17 nTPM
hypothalamus: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NSUN2.

Disease | AllUniProt

Conditions NSUN2 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal recessive 5 (MRT5) MIM:611091

Disease | GeneticClinVar

54 pathogenic / likely-pathogenic of 676 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal recessive 5
Inborn genetic diseases
Phenylketonuria
Autosomal recessive non-syndromic intellectual disability
Intellectual disability

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.53
gnomAD pLI: 0
gnomAD missense Z: 0.03
DepMap mean gene effect: 0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 16% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

SAM-dependent methyltransferase RsmB-F/NOP2-type domain
RNA (C5-cytosine) methyltransferase
S-adenosyl-L-methionine-dependent methyltransferase superfamily
SAM-dependent methyltransferase RsmB-F/NOP2-type, catalytic core
16S rRNA methyltransferase RsmB/F
tRNA (C5-cytosine) methyltransferase, NCL1
RNA cytosine-C(5)-methyltransferase NSUN2-like, pre-PUA domain
RNA cytosine-C(5)-methyltransferase NSUN2-like, PUA domain
NSUN2 Pre-PUA domain
NSUN2 PUA domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NSUN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NSUN2 as an antibody target. Whether an autoantibody or antibody against NSUN2 could matter depends on whether native NSUN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NSUN2 is annotated as secreted, so native NSUN2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label NSUN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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