TSEN2
tRNA-splicing endonuclease subunit Sen2
Also known as: MGC2776, SEN2, SEN2_HUMAN, SEN2L
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NCE0
- Gene
- TSEN2
- Ensembl
- ENSG00000154743
- Chromosome
- 3
- Canonical length
- 465 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Centrosome,Cytosol
OverviewNCBI Gene
This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
Canonical amino-acid sequenceUniProt
465 residues, UniProt reviewed canonical sequence.
>Q8NCE0|TSEN2
1 MAEAVFHAPK RKRRVYETYE SPLPIPFGQD HGPLKEFKIF RAEMINNNVI VRNAEDIEQL
61 YGKGYFGKGI LSRSRPSFTI SDPKLVAKWK DMKTNMPIIT SKRYQHSVEW AAELMRRQGQ
121 DESTVRRILK DYTKPLEHPP VKRNEEAQVH DKLNSGMVSN MEGTAGGERP SVVNGDSGKS
181 GGVGDPREPL GCLQEGSGCH PTTESFEKSV REDASPLPHV CCCKQDALIL QRGLHHEDGS
241 QHIGLLHPGD RGPDHEYVLV EEAECAMSER EAAPNEELVQ RNRLICRRNP YRIFEYLQLS
301 LEEAFFLVYA LGCLSIYYEK EPLTIVKLWK AFTVVQPTFR TTYMAYHYFR SKGWVPKVGL
361 KYGTDLLLYR KGPPFYHASY SVIIELVDDH FEGSLRRPLS WKSLAALSRV SVNVSKELML
421 CYLIKPSTMT DKEMESPECM KRIKVQEVIL SRWVSSRERS DQDDLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TSEN2 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)
- 0.43
- Highest tissue expression
- 5.2 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 5.2 nTPM
- skeletal muscle: 4.2 nTPM
- cerebellum: 4 nTPM
- spinal cord: 3.9 nTPM
- basal ganglia: 3.8 nTPM
- choroid plexus: 3.8 nTPM
Single-cell type
- adipocytes: 141 nCPM
- choroid plexus epithelial cells: 95 nCPM
- myonuclei: 89 nCPM
- rod photoreceptor cells: 81 nCPM
- thyrotrophs: 81 nCPM
- differentiating spermatogonia: 78 nCPM
Immune cell
- naive CD4 T-cell: 6.2 nTPM
- naive CD8 T-cell: 5.1 nTPM
- memory CD4 T-cell: 4.6 nTPM
- MAIT T-cell: 4.4 nTPM
- memory CD8 T-cell: 3.8 nTPM
- memory B-cell: 3.7 nTPM
Brain region
- cerebellum: 4.3 nTPM
- basal ganglia: 3.5 nTPM
- cerebral cortex: 3.5 nTPM
- hypothalamus: 3.3 nTPM
- choroid plexus: 3.2 nTPM
- white matter: 3.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TSEN2.
Disease | AllUniProt
Conditions TSEN2 is implicated in, by any mechanism.
- Pontocerebellar hypoplasia 2B (PCH2B) MIM:612389
Disease | GeneticClinVar
27 pathogenic / likely-pathogenic of 366 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pontocerebellar hypoplasia type 2B
- Pontoneocerebellar hypoplasia
- Inborn genetic diseases
- Hemolytic-uremic syndrome
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)
- 1.14
- gnomAD pLI
- 0
- gnomAD missense Z
- -1
- DepMap mean gene effect
- -0.6
- DepMap dependency class
- common
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
- mRNA processing
- tRNA processing
- tRNA splicing, via endonucleolytic cleavage and ligation
- tRNA-type intron splice site recognition and cleavage
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- tRNA-splicing endonuclease
- tRNA intron endonuclease, catalytic domain-like
- tRNA endonuclease-like domain superfamily
- tRNA intron endonuclease, catalytic domain-like superfamily
- tRNA intron endonuclease, catalytic C-terminal domain
- tRNA intron endonuclease, N-terminal
- tRNA-splicing endonuclease, SEN2 subunit
- tRNA intron endonuclease, N-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TSEN2 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 TSEN2 as an antibody target. Whether an autoantibody or antibody against TSEN2 could matter depends on whether native TSEN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TSEN2 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 TSEN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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