Seroatlas · Human Serome Atlas

TSR2

Pre-rRNA-processing protein TSR2 homolog

Also known as: DT1P1A10, RP1-112K5.2, TSR2_HUMAN, WGG1

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

Protein identityUniProt · HPA

UniProt accession
Q969E8
Gene
TSR2
Ensembl
ENSG00000158526
Chromosome
X
Canonical length
191 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli,Cytosol

OverviewNCBI Gene

The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]

Canonical amino-acid sequenceUniProt

191 residues, UniProt reviewed canonical sequence.

>Q969E8|TSR2
     1  MAGAAEDARA LFRAGVCAAL EAWPALQIAV ENGFGGVHSQ EKAKWLGGAV EDYFMRNADL
    61  ELDEVEDFLG ELLTNEFDTV VEDGSLPQVS QQLQTMFHHF QRGDGAALRE MASCITQRKC
   121  KVTATALKTA RETDEDEDDV DSVEEMEVTA TNDGAATDGV CPQPEPSDPD AQTIKEEDIV
   181  EDGWTIVRRK K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TSR2 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)
0.45
Highest tissue expression
62 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 62 nTPM
  • midbrain: 57 nTPM
  • amygdala: 54 nTPM
  • basal ganglia: 53 nTPM
  • hypothalamus: 48 nTPM
  • hippocampal formation: 47 nTPM

Single-cell type

  • oocytes: 152 nCPM
  • cytotrophoblasts: 119 nCPM
  • epididymal principal cells: 115 nCPM
  • migrating cytotrophoblasts: 103 nCPM
  • esophageal apical cells: 97 nCPM
  • syncytiotrophoblasts: 91 nCPM

Immune cell

  • naive B-cell: 47 nTPM
  • memory B-cell: 45 nTPM
  • naive CD4 T-cell: 43 nTPM
  • T-reg: 41 nTPM
  • gdT-cell: 36 nTPM
  • memory CD4 T-cell: 34 nTPM

Brain region

  • hypothalamus: 50 nTPM
  • thalamus: 47 nTPM
  • amygdala: 47 nTPM
  • spinal cord: 46 nTPM
  • basal ganglia: 44 nTPM
  • medulla oblongata: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TSR2.

Disease | AllUniProt

Conditions TSR2 is implicated in, by any mechanism.

  • Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14) MIM:300946

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 102 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.56
gnomAD pLI
0.8
gnomAD missense Z
0.99
DepMap mean gene effect
-1.6
DepMap dependency class
pan

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

  • LSU-rRNA)
  • maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA
  • 5.8S rRNA

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Pre-rRNA-processing protein TSR2
  • Pre-rRNA-processing protein TSR2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TSR2 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 TSR2 as an antibody target. Whether an autoantibody or antibody against TSR2 could matter depends on whether native TSR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TSR2 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 TSR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TSR2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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