|
Gene id |
90693 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CCDC126 Gene UCSC Ensembl |
|
Gene name |
coiled-coil domain containing 126 |
|
Alternate names |
coiled-coil domain-containing protein 126, |
|
Gene location |
7p15.3 (23597381: 23644707) Exons: 6 NC_000007.14
|
|
OMIM |
0 |
Protein Summary
|
| Protein general information
| Q96EE4
Name: Coiled coil domain containing protein 126
Length: 140 Mass: 15668
|
| Sequence |
MFFTISRKNMSQKLSLLLLVFGLIWGLMLLHYTFQQPRHQSSVKLREQILDLSKRYVKALAEENKNTVDVENGAS
MAGYADLKRTIAVLLDDILQRLVKLENKVDYIVVNGSAANTTNGTSGNLVPVTTNKRTNVSGSIR
|
| Structural information |
|
| Other Databases |
GeneCards: CCDC126 Malacards: CCDC126 |
|
| GO accession | Term name | Evidence code | Go category |
|---|
| GO:0005576 |
extracellular region
|
IEA |
cellular component |
GO:0005576 |
extracellular region
|
IEA |
cellular component |
GO:0016020 |
membrane
|
HDA |
cellular component |
|
|
| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|