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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PTBP2
polypyrimidine tract binding protein 2
Chromosome 1 Β· 1p21.3
NCBI Gene: 58155Ensembl: ENSG00000117569.20HGNC: HGNC:17662UniProt: A0A6Q8PFE6
94PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingnegative regulation of RNA splicingregulation of RNA splicingnucleusAbnormality of the skeletal systemschizophreniaobesitymorbid obesity
✦AI Summary

PTBP2 (polypyrimidine tract binding protein 2) is a neuronal RNA-binding protein that primarily functions in alternative splicing regulation. PTBP2 binds to polypyrimidine tracts and CU microsatellites in pre-mRNA, promoting exon exclusion and repressing cryptic exons to maintain splicing fidelity 1. This splicing activity is dynamically controlled during neuronal development, where the kinase KIS phosphorylates PTBP2 to modulate its RNA-binding capability and regulate exon usage 2. PTBP2 targets include SYNGAP1, where binding promotes alternative splicing and nonsense-mediated decay 3. Beyond splicing, PTBP2 exhibits oncogenic properties in multiple cancer types. In chr1 myeloid leukemia, PTBP2 stabilizes BNIP3 mRNA, promoting autophagy and cell survival while supporting tumor formation 4. Similarly, PTBP2 is aberrantly overexpressed in hepatocellular carcinoma and gliomas, where it promotes cell proliferation and migration 56. In hepatocellular carcinoma, elevated PTBP2 expression is associated with poor survival and serves as an independent prognostic factor 6. Genetically, PTBP2 variants are associated with body weight regulation and metabolic traits. Genome-wide association studies identified PTBP2 locus variants linked to both anorexia nervosa and BMI, with sex-specific effects more pronounced in males 78. Higher PTBP2 expression correlates with increased obesity risk 8.

Sources cited
1
PTBP2 binds to polypyrimidine tracts and CU microsatellites in pre-mRNA, promoting exon exclusion and repressing cryptic exons to maintain splicing fidelity .
PMID: 27681424
2
This splicing activity is dynamically controlled during neuronal development, where the kinase KIS phosphorylates PTBP2 to modulate its RNA-binding capability and regulate exon usage .
PMID: 38597390
3
PTBP2 targets include SYNGAP1, where binding promotes alternative splicing and nonsense-mediated decay .
PMID: 37149717
4
In chr1 myeloid leukemia, PTBP2 stabilizes BNIP3 mRNA, promoting autophagy and cell survival while supporting tumor formation .
PMID: 40113750
5
Similarly, PTBP2 is aberrantly overexpressed in hepatocellular carcinoma and gliomas, where it promotes cell proliferation and migration , .
PMID: 40220253
6
Genome-wide association studies identified PTBP2 locus variants linked to both anorexia nervosa and BMI, with sex-specific effects more pronounced in males , .
PMID: 30944420
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
schizophreniaOpen Targets
0.43Moderate
obesityOpen Targets
0.40Weak
morbid obesityOpen Targets
0.38Weak
complex regional pain syndromeOpen Targets
0.32Weak
overnutritionOpen Targets
0.32Weak
attention deficit hyperactivity disorderOpen Targets
0.31Weak
atrial fibrillationOpen Targets
0.30Weak
preeclampsiaOpen Targets
0.30Weak
multinodular goiterOpen Targets
0.28Weak
autism spectrum disorderOpen Targets
0.28Weak
obstructive sleep apneaOpen Targets
0.28Weak
major depressive disorderOpen Targets
0.28Weak
intelligenceOpen Targets
0.28Weak
bone remodeling diseaseOpen Targets
0.27Weak
sleep apneaOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.26Weak
injuryOpen Targets
0.26Weak
anorexia nervosaOpen Targets
0.25Weak
insomniaOpen Targets
0.24Weak
Pathogenic Variants2
NM_021190.4(PTBP2):c.2T>C (p.Met1Thr)Pathogenic
PTBP2-related neurodevelopmental disease|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_021190.4(PTBP2):c.41G>C (p.Arg14Thr)Pathogenic
PTBP2-related neurodevelopmental disease
β˜…β˜†β˜†β˜†2025β†’ Residue 14
View on ClinVar β†—
Related Genes
NOVA1Protein interaction89%NOVA2Protein interaction89%SRSF3Protein interaction89%HNRNPH1Protein interaction86%RAVER1Protein interaction85%KHSRPProtein interaction84%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
44%
Ovary
32%
Lung
21%
Liver
18%
Heart
15%
Gene Interaction Network
Click a node to explore
PTBP2NOVA1NOVA2SRSF3HNRNPH1RAVER1KHSRP
PROTEIN STRUCTURE
Preparing viewer…
PDB4CQ1 Β· 1.69 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.17–0.42]
RankingsWhere PTBP2 stands among ~20K protein-coding genes
  • #5,099of 20,598
    Most Researched94 Β· top quartile
  • #4,333of 5,498
    Most Pathogenic Variants2
  • #2,214of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedPTBP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PTBP2 - a gene with relevance for both Anorexia nervosa and body weight regulation.
PMID: 35680849
Transl Psychiatry Β· 2022
1.00
2
Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching.
PMID: 37149717
Nat Commun Β· 2023
0.90
3
PTBP2 promotes cell survival and autophagy in chronic myeloid leukemia by stabilizing BNIP3.
PMID: 40113750
Cell Death Dis Β· 2025
0.80
4
KIS counteracts PTBP2 and regulates alternative exon usage in neurons.
PMID: 38597390
Elife Β· 2024
0.70
5
Splicing factors PTBP1 and PTBP2 promote proliferation and migration of glioma cell lines.
PMID: 19506066
Brain Β· 2009
0.60