PTBP2 Gene

HGNC Family	RNA binding motif containing (RBM)
Name	polypyrimidine tract binding protein 2
Description	The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPTBP2, also known as nPTB, is a critical regulator of alternative pre‐mRNA splicing whose expression is driven, in part, by a conserved promoter structure in neuronal and non‐neuronal cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In the context of calcium channel (CaV1.2) splicing, its activity—albeit as a relatively weaker repressor compared to its paralog PTB—is instrumental in directing the mutually exclusive usage of exons with profound implications for human disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFunctioning predominantly as a splicing repressor, PTBP2, together with PTB, binds to pyrimidine-rich sequence elements to inhibit the inclusion of selected alternative and cryptic exons, thereby safeguarding the fidelity and tissue-specific diversity of the transcriptome."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Post-translational modifications, such as SUMO1 conjugation as observed in normal brain cells but diminished in glioma, further modulate its splicing activity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn cancer contexts, PTBP2 participates in oncogenic splicing networks. For example, in oral squamous cell carcinoma, PTBP2 binding to an exonic splicing suppressor impedes the inclusion of regulatory exons in SRSF3 pre-mRNA, contributing to the overexpression of an oncogenic splice isoform."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, PTBP2, as one of the PTB family members, also engages in unexpected RNA partnerships by interacting with mitochondrial tRNA(Thr), suggesting potential roles in apoptosis and other cytoplasmic processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical splicing functions, aberrant regulation of PTBP2 is linked to cancer progression. In chronic myeloid leukemia, enhanced inclusion of PTBP2 exon 10 fosters the production of a functional protein that supports cell proliferation, while its inhibition provokes cell cycle arrest and apoptosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In prostate cancer, PTBP2 is a component of a regulatory axis with SFPQ that is co-opted by exosome-delivered NEAT1 to upregulate RUNX2 and promote osteogenic differentiation"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ", and in glioblastoma, altered splicing dynamics affecting PTBP2—as modulated by SON and its partners—demonstrate its involvement in oncogenic splicing programs."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the nervous system, PTBP2 exerts pivotal control over neuronal differentiation and synaptic maturation. Transcriptome-wide mapping of its binding sites in brain tissue has uncovered its role in directing alternative splicing events—for instance, promoting the exclusion of a neuron-specific exon in SYNGAP1 mRNA, thereby inducing transcript degradation via nonsense-mediated decay."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " Furthermore, phosphorylation of PTBP2 by the KIS kinase diminishes its RNA-binding capacity through the dissociation from cofactors such as Matrin3 and hnRNPM, which in turn adjusts exon inclusion patterns essential for proper synaptic spine formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Maria Grazia Romanelli, Pamela Lorenzi, Carlo Morandi "}, {"type": "b", "children": [{"type": "t", "text": "Identification and analysis of the human neural polypyrimidine tract binding protein (nPTB) gene promoter region."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2005.04.031"}], "href": "https://doi.org/10.1016/j.gene.2005.04.031"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16002244"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16002244"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Zhen Zhi Tang, Shalini Sharma, Sika Zheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of the mutually exclusive exons 8a and 8 in the CaV1.2 calcium channel transcript by polypyrimidine tract-binding protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.208116"}], "href": "https://doi.org/10.1074/jbc.M110.208116"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21282112"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21282112"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Maria Grazia Romanelli, Erica Diani, Patricia Marie-Jeanne Lievens "}, {"type": "b", "children": [{"type": "t", "text": "New insights into functional roles of the polypyrimidine tract-binding protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms141122906"}], "href": "https://doi.org/10.3390/ijms141122906"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24264039"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24264039"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Wei Han, Lin Wang, Bin Yin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of a novel posttranslational modification in polypyrimidine tract-binding proteins by SUMO1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMB Rep (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.5483/bmbrep.2014.47.4.140"}], "href": "https://doi.org/10.5483/bmbrep.2014.47.4.140"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24286314"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24286314"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jihua Guo, Jun Jia, Rong Jia "}, {"type": "b", "children": [{"type": "t", "text": "PTBP1 and PTBP2 impaired autoregulation of SRSF3 in cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep14548"}], "href": "https://doi.org/10.1038/srep14548"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26416554"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26416554"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Aline Marnef, Beáta E Jády, Tamás Kiss "}, {"type": "b", "children": [{"type": "t", "text": "Human polypyrimidine tract-binding protein interacts with mitochondrial tRNA(Thr) in the cytosol."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkv1355"}], "href": "https://doi.org/10.1093/nar/gkv1355"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26657638"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26657638"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "S Rajashree Nandagopalan, Subramaniam Agatheeswaran, Yellamandayya Vadlamudi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PTBP2 exon 10 inclusion is associated with the progression of CML and it is BCR-ABL1 dependent."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biochem Cell Biol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biocel.2019.01.018"}], "href": "https://doi.org/10.1016/j.biocel.2019.01.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30726713"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30726713"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Chengqiang Mo, Bin Huang, Jintao Zhuang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LncRNA nuclear-enriched abundant transcript 1 shuttled by prostate cancer cells-secreted exosomes initiates osteoblastic phenotypes in the bone metastatic microenvironment via miR-205-5p/runt-related transcription factor 2/splicing factor proline- and glutamine-rich/polypyrimidine tract-binding protein 2 axis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Transl Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ctm2.493"}], "href": "https://doi.org/10.1002/ctm2.493"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34459124"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34459124"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jung-Hyun Kim, Kyuho Jeong, Jianfeng Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-021-25892-x"}], "href": "https://doi.org/10.1038/s41467-021-25892-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34548489"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34548489"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Jennine M Dawicki-McKenna, Alex J Felix, Elisa A Waxman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-023-38273-3"}], "href": "https://doi.org/10.1038/s41467-023-38273-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37149717"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37149717"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Marcos Moreno-Aguilera, Alba M Neher, Mónica B Mendoza, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KIS counteracts PTBP2 and regulates alternative exon usage in neurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.96048"}], "href": "https://doi.org/10.7554/eLife.96048"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38597390"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38597390"}]}]}]}
Synonyms	NPTB, PTBLP, BRPTB
Proteins	PTBP2_HUMAN
NCBI Gene ID	58155
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PTBP2 has 8,175 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 125 datasets.

Click the + buttons to view associations for PTBP2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PTBP2 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PTBP2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PTBP2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PTBP2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PTBP2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PTBP2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PTBP2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving PTBP2 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PTBP2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PTBP2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PTBP2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of PTBP2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PTBP2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PTBP2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PTBP2 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PTBP2 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PTBP2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PTBP2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PTBP2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PTBP2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PTBP2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing PTBP2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PTBP2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PTBP2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing PTBP2 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PTBP2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PTBP2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with PTBP2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PTBP2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PTBP2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with PTBP2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PTBP2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PTBP2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PTBP2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PTBP2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PTBP2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PTBP2 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PTBP2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PTBP2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PTBP2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with PTBP2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.