PTBP2 (polypyrimidine tract binding protein 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 58155
Gene name Polypyrimidine tract binding protein 2
Gene symbol PTBP2
Synonyms (NCBI Gene)
PTBLPbrPTBnPTB
Chromosome 1
Chromosome location 1p21.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
1802
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1802)
miRTarBase ID miRNA Experiments Reference
MIRT001344 hsa-miR-1-3p pSILAC 18668040
MIRT003052 hsa-miR-133b Reporter assay 17210790
MIRT001344 hsa-miR-1-3p Proteomics;Other 18668040
MIRT024340 hsa-miR-215-5p Microarray 19074876
MIRT026877 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IBA
GO:0003729 Function MRNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608449 17662 ENSG00000117569
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKA9
Protein name Polypyrimidine tract-binding protein 2 (Neural polypyrimidine tract-binding protein) (Neurally-enriched homolog of PTB) (PTB-like protein)
Protein function RNA-binding protein which binds to intronic polypyrimidine tracts and mediates negative regulation of exons splicing. May antagonize in a tissue-specific manner the ability of NOVA1 to activate exon selection. In addition to its function in pre-
PDB 2CQ1 , 2MJU , 4CQ1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11835 RRM_8 169 → 257 RRM-like domain Domain
PF13893 RRM_5 309 → 434 Domain
PF00076 RRM_1 457 → 520 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in brain although also detected in other tissues like heart and skeletal muscle. Isoform 1 and isoform 2 are specifically expressed in neuronal tissues. Isoform 3 and isoform 4 are expressed in non-neuronal tissues. Is
Sequence 
MDGIVTEVAVGVKRGSDELLSGSVLSSPNSNMSSMVVTANGNDSKKFKGEDKMDGAPSRV
LHIRKLPGEVTETEVIALGLPFGKVTNILMLKGKNQAFLELATEEAAITMVNYYSAVTPH
LRNQPIYIQYSNHKELKTDNTLNQRAQAVLQAVTAVQTANTPLSGTTVSESAVTPAQSPV
LRIIIDNMYYPVTLDVLHQIFSKFGAVLKIITFTKNNQFQALLQYGDPVNAQQAKLALDG
QNIYNACCTLRIDFSKLVNLNVKYNNDKSRDYTRPDLPSGDGQPALDPAIAAAFAKETSL
LAVPGALSPLAIPNAAAAAAAAAAGRVGMPGVSAGGNTVLLVSNLNEEMVTPQSLFTLFG
VYGDVQRVKILYNKKDSALIQMADGNQSQLAMNHLNGQKMYGKIIRVTLSKHQTVQLPRE
GLDDQGLTKDFGNSPLHRFKKPGSKNFQNIFPPSATLHLSNIPPSVAEEDLRTLFANTGG
TVKAFKFFQDHKMALLQMATVEEAIQALIDLHNYNLGENHHLRVSFSKSTI
Sequence length 531
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANAL POLYP — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (38)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 36776048 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 35680849 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 23695548
★★★★★
★☆☆☆☆
Found in Text Mining only
Bronchopulmonary Dysplasia Bronchopulmonary Dysplasia BEFREE 21960125
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31819557
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 15269137
★★★★★
★☆☆☆☆
Found in Text Mining only
Carney Complex Carney Complex BEFREE 11694331
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31316988
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 26506517 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism BEFREE 29045475
★★★★★
★☆☆☆☆
Found in Text Mining only