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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TRA2B
transformer 2 beta homolog
Chromosome 3 · 3q27.2
NCBI Gene: 6434Ensembl: ENSG00000136527.20HGNC: HGNC:10781UniProt: P62995
236PubMed Papers
20Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
spliceosomal complexRNA bindingmRNA bindingprotein bindingNeurodevelopmental disorderepilepsyIntellectual disabilitypreeclampsia
✦AI Summary

TRA2B encodes TRA2β (transformer 2 beta homolog), a serine/arginine-rich splicing regulator that controls alternative pre-mRNA splicing in a concentration-dependent manner 1. The protein functions as both an activator and suppressor of exon inclusion, with critical roles in autoregulation through an ultraconserved poison exon (PE) mechanism 23. TRA2β undergoes autoregulatory splicing where PE inclusion targets transcripts for nonsense-mediated decay, maintaining proper protein levels essential for cellular function 3. This autoregulation is crucial for male fertility, as PE deletion causes azoospermia due to toxic TRA2β protein accumulation during meiotic prophase 3. The gene produces multiple splice isoforms, with TRA2β1 being the functional protein and TRA2β4 serving as a functional RNA 4. TRA2β regulates T cell receptor sensitivity through PE splicing, acting as a gatekeeper for T cell fate decisions during immune responses 2. In cancer contexts, TRA2β is frequently amplified across multiple malignancies, and decreased PE inclusion contributes to oncogenic upregulation 15. Pathogenic variants in TRA2B cause neurodevelopmental disorders with seizures and developmental delay 6. The protein cooperates with other splicing regulators like SRRM2 and SON to control GC-rich exon inclusion important for myeloid differentiation 7.

Sources cited
1
TRA2β is a serine/arginine-rich splicing regulator that functions in concentration-dependent manner and is amplified in multiple cancers
PMID: 39512036
2
TRA2β contains an ultraconserved poison exon that regulates T cell receptor sensitivity and T cell fate decisions
PMID: 39265028
3
TRA2β poison exon deletion causes male infertility due to toxic protein accumulation during meiotic prophase
PMID: 39748121
4
TRA2B produces multiple splice isoforms including functional protein TRA2β1 and functional RNA TRA2β4
PMID: 31311954
5
Decreased poison exon inclusion contributes to oncogenic TRA2β upregulation in cancer
PMID: 39955311
6
Pathogenic TRA2B variants cause neurodevelopmental disorders with seizures and developmental delay
PMID: 37958557
7
TRA2β cooperates with other splicing regulators to control GC-rich exon inclusion in myeloid differentiation
PMID: 38943321
Disease Associationsⓘ20
Neurodevelopmental disorderOpen Targets
0.53Moderate
epilepsyOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.37Weak
preeclampsiaOpen Targets
0.32Weak
BlindnessOpen Targets
0.27Weak
schizophreniaOpen Targets
0.27Weak
Respiratory insufficiencyOpen Targets
0.21Weak
microcephalyOpen Targets
0.19Weak
genetic disorderOpen Targets
0.18Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
diabetic retinopathyOpen Targets
0.11Weak
diabetic eye diseaseOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
hypertriglyceridemia 2Open Targets
0.07Suggestive
hypoalphalipoproteinemia, primary, 1Open Targets
0.05Suggestive
fish eye diseaseOpen Targets
0.05Suggestive
Fish-eye diseaseOpen Targets
0.05Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants6
NM_004593.3(TRA2B):c.19C>T (p.Gln7Ter)Pathogenic
TRA2B-related condition
★☆☆☆2025→ Residue 7
NM_004593.3(TRA2B):c.170+1G>APathogenic
TRA2B-associated epileptic encephalopathy|Ramond-Elliott neurodevelopmental syndrome
★☆☆☆2023
NM_004593.3(TRA2B):c.170+1delPathogenic
Ramond-Elliott neurodevelopmental syndrome
☆☆☆☆2025
NM_004593.3(TRA2B):c.2T>G (p.Met1Arg)Pathogenic
Ramond-Elliott neurodevelopmental syndrome
☆☆☆☆2025→ Residue 1
NM_004593.3(TRA2B):c.2_4del (p.Met1del)Pathogenic
Ramond-Elliott neurodevelopmental syndrome
☆☆☆☆2025→ Residue 1
NM_004593.3(TRA2B):c.1A>G (p.Met1Val)Pathogenic
Ramond-Elliott neurodevelopmental syndrome
☆☆☆☆2025→ Residue 1
View on ClinVar ↗
Related Genes
RNPS1Protein interaction100%CLK3Protein interaction100%SRSF2Protein interaction100%SRPK2Protein interaction100%SRSF8Protein interaction100%YTHDC1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
20%
Lung
17%
Brain
16%
Liver
15%
Heart
12%
Gene Interaction Network
Click a node to explore
TRA2BRNPS1CLK3SRSF2SRPK2SRSF8YTHDC1
PROTEIN STRUCTURE
Preparing viewer…
PDB2CQC · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.96Intolerant
Observed/Expected LoF0.31 [0.19–0.53]
RankingsWhere TRA2B stands among ~20K protein-coding genes
  • #1,678of 20,598
    Most Researched236 · top 10%
  • #3,302of 5,498
    Most Pathogenic Variants6
  • #3,292of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedTRA2B
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Autoregulated splicing of
PMID: 39265028
Science · 2024
1.00
2
An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division.
PMID: 39748121
EMBO J · 2025
0.90
3
PMID: 37958557
Int J Mol Sci · 2023
0.80
4
Correlating the genetic alterations and expression profile of the
PMID: 39512036
Folia Med (Plovdiv) · 2024
0.70
5
Epigenetic-focused CRISPR/Cas9 screen identifies (absent, small, or homeotic)2-like protein (ASH2L) as a regulator of glioblastoma cell survival.
PMID: 37974198
Cell Commun Signal · 2023
0.68