Polypyrimidine Tract-Binding Protein 2

Alternative Names

  • PTBP2
  • Neuronal Polypyrimidine Tract-Binding Protein
  • NPTB
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OMIM Number

608449

NCBI Gene ID

58155

Uniprot ID

Q9UKA9

Length

101,974 bases

No. of Exons

16

No. of isoforms

6

Protein Name

Polypyrimidine tract-binding protein 2

Molecular Mass

57491 Da

Amino Acid Count

531

Genomic Location

chr1:96,721,765-96,823,738

Gene Map Locus
1p21.3

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000001.11:g.96476850G>AUnited Arab EmiratesNC_000001.11:g.96476850G>AType 2 Diabetes Mellitus; Obesity10489741
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