|
Gene id |
257044 |
| Gene Summary SNPs Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CATSPERE Gene UCSC Ensembl |
|
Aliases |
C10orf101, C1orf101 |
|
Gene name |
catsper channel auxiliary subunit epsilon |
|
Alternate names |
cation channel sperm-associated protein subunit epsilon, catSper-epsilon, catSperepsilon, uncharacterized protein C1orf101, |
|
Gene location |
1q44 (244452012: 244640503) Exons: 31 NC_000023.11
|
|
OMIM |
617510 |
SNPs |
rs761237686
Strand: Allele origin: Allele change: Mutation type: delins
NC_000001.11 g.244605785_244605790del
NC_000001.10 g.244769087_244769092del
NG_029082.1 g.149415_149420del
NM_173807.5 c.2394_2399del
NM_173807.4 c.2394_2399del
NM_001130957.2 c.2394_2399del
NM_001130957.1 c.2394_2399del
NM_001242340.1 c.1941_1946del
|
|
| Associated diseases |
References |
| Compromised fertilizing ability | MIK: 30239785 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Compromised fertilizing ability | MIK: 30239785 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 30239785 |
Compromise
d fertiliz
ing abilit
y
|
6-bp deletion in exon 18 (c.2393_2398delCTATGG, rs761237686) |
|
1 patient with
loss of CatSper
function and c
ompromised fert
ilizing capacit
y
|
Male infertility |
Catsper
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|