|
Gene id |
283450 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
HECTD4 Gene UCSC Ensembl |
|
Aliases |
C12ord51, C12orf51, HEEL, POTAGE |
|
Gene name |
HECT domain E3 ubiquitin protein ligase 4 |
|
Alternate names |
probable E3 ubiquitin-protein ligase HECTD4, AF-1 specific protein phosphatase, HECT domain containing E3 ubiquitin protein ligase 4, HECT domain-containing protein 4, HECT-type E3 ubiquitin transferase HECTD4, probable E3 ubiquitin-protein ligase C12orf51, tra, |
|
Gene location |
12q24.13 (112382430: 112160194) Exons: 76 NC_000012.12
|
|
OMIM |
0 |
|
| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| 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 |
| 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 |
|