Gene id |
5358 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
PLS3 Gene UCSC Ensembl |
Aliases |
BMND18, T-plastin |
Gene name |
plastin 3 |
Alternate names |
plastin-3, T fimbrin, T plastin, |
Gene location |
Xq23 (115561173: 115650860) Exons: 20 NC_000009.12
|
Gene summary(Entrez) |
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as
|
OMIM |
300131 |
Protein Summary
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GO accession | Term name | Evidence code | Go category |
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Associated diseases |
References |
Osteoporosis | KEGG: H01593 |
Spermatogenesis defects | MIK: 26048141 |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Regulator of ectoplasmic specialization dynamics during spermatogenesis in the rat testis | MIK: 26048141 |
Teratozoospermia | MIK: 17327269 |
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|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
26048141 |
Regulator of ectopla smic speci alization dynamics d uring sper matogenesi s in the r at testis
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Male infertility |
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Show abstract |
17327269 |
Teratozoos permia
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|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
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Show abstract |
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