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 |
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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
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Male infertility |
|
Show abstract |
28636946 |
Spermatoge netic defe cts, Male infertilit y
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Male infertility |
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
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18
|
Male infertility |
GSE26881
|
Show abstract |
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