|
Gene id |
200162 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SPAG17 Gene UCSC Ensembl |
|
Aliases |
CT143, PF6 |
|
Gene name |
sperm associated antigen 17 |
|
Alternate names |
sperm-associated antigen 17, projection protein PF6 homolog, |
|
Gene location |
1p12 (118185227: 117953589) Exons: 56 NC_000009.12
|
|
Gene summary(Entrez) |
This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliar
|
|
OMIM |
616554 |
|
| Associated diseases |
References |
| Cancer (thyroid) | GAD: 18559567 |
| Crohn's disease | GAD: 20846217 |
| Sperm motility | MIK: 29690537 |
| Asthenozoospermia | MIK: 28548327 |
| Male infertility | MIK: 29690537 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29690537 |
Sperm moti
lity, Male
infertili
ty
|
|
|
|
Male infertility |
|
Show abstract |
| 28548327 |
Asthenozoo
spermia
|
c.G4343A, p.R1448Q |
|
2 cases
|
Male infertility |
NGS
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|