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Gene id 58155
Gene Summary    Diseases    PubMed    

Gene Summary

Gene Symbol PTBP2   Gene   UCSC   Ensembl
Aliases PTBLP, brPTB, nPTB
Gene name polypyrimidine tract binding protein 2
Alternate names polypyrimidine tract-binding protein 2, PTB-like protein, neural polypyrimidine tract binding protein, neurally-enriched homolog of PTB,
Gene location 1p21.3 (96721604: 96823738)     Exons: 16     NC_000012.12
Gene summary(Entrez) 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
OMIM 608449
Associated diseases References
Stress MIK: 29045475
Schizophrenia GAD: 19571811
Spermatogenesis defects MIK: 28636946
Non obstructive azoospermia MIK: 29045475
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Spermatogenetic defects MIK: 28636946
Male infertility MIK: 28636946
Stress induced sperm cell injury MIK: 29045475
Non-obstructive azoospermia MIK: 29045475

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29045475 Stress ind
uced sperm
cell inju
ry, non-ob
structive
azoospermi
a


Male infertility
Show abstract
28636946 Spermatoge
netic defe
cts, Male
infertilit
y


Male infertility
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract