Seroatlas · Human Serome Atlas

THUMPD2

U6 snRNA (guanine-N(2))-methyltransferase THUMPD2

Also known as: C2orf8, MGC2454, THUM2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9BTF0
Gene: THUMPD2
Ensembl: ENSG00000138050
Chromosome: 2
Canonical length: 503 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

Enables snRNA methyltransferase activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Part of tRNA methyltransferase complex. Is active in nucleus. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

503 residues, UniProt reviewed canonical sequence.

>Q9BTF0|THUMPD2
     1  MSEARGEPGS GPEAGARFFC TAGRGLEPFV MREVRARLAA TQVEYISGKV FFTTCSDLNM
    61  LKKLKSAERL FLLIKKQFPL IISSVSKGKI FNEMQRLINE DPGSWLNAIS IWKNLLELDA
   121  KKEKLSQRDD NQLKRKVGEN EIIAKKLKIE QMQKIEENRD CQLEKQIKEE TLEQRDFTTK
   181  SEKFQEEEFQ NDIEKAIDTH NQNDLTFRVS CRCSGTIGKA FTAQEVGKVI GIAIMKHFGW
   241  KADLRNPQLE IFIHLNDIYS VVGIPVFRVS LASRAYIKTA GLRSTIAWAM ASLADIKAGA
   301  FVLDPMCGLG TILLEAAKEW PDVYYVGADV SDSQLLGTWD NLKAAGLEDK IELLKISVIE
   361  LPLPSESVDI IISDIPFGKK FKLGKDIKSI LQEMERVLHV GGTIVLLLSE DHHRRLTDCK
   421  ESNIPFNSKD SHTDEPGIKK CLNPEEKTGA FKTASTSFEA SNHKFLDRMS PFGSLVPVEC
   481  YKVSLGKTDA FICKYKKSHS SGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against THUMPD2 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.37
Highest tissue expression: 4.2 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 4.2 nTPM
skeletal muscle: 3.8 nTPM
tongue: 3.8 nTPM
cerebellum: 2.8 nTPM
heart muscle: 2.5 nTPM
esophagus: 2.2 nTPM

Single-cell type

sertoli cells: 122 nCPM
prostatic glandular cells: 105 nCPM
myonuclei: 104 nCPM
thyrotrophs: 89 nCPM
somatotrophs: 88 nCPM
microglia: 85 nCPM

Immune cell

plasmacytoid DC: 0.9 nTPM
memory B-cell: 0.7 nTPM
classical monocyte: 0.6 nTPM
MAIT T-cell: 0.6 nTPM
naive CD4 T-cell: 0.6 nTPM
total PBMC: 0.6 nTPM

Brain region

cerebellum: 1.2 nTPM
white matter: 1 nTPM
midbrain: 0.9 nTPM
cerebral cortex: 0.8 nTPM
medulla oblongata: 0.7 nTPM
choroid plexus: 0.6 nTPM

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): 1.19
gnomAD pLI: 0
gnomAD missense Z: -0.62
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

RNA binding
tRNA (guanine) methyltransferase activity
U6 snRNA (guanine-N(2))-methyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads THUMPD2 as an antibody target. Whether an autoantibody or antibody against THUMPD2 could matter depends on whether native THUMPD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

THUMPD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label THUMPD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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