|
Gene id |
9718 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
ECE2 Gene UCSC Ensembl |
|
Aliases |
EEF1AKMT4 |
|
Gene name |
endothelin converting enzyme 2 |
|
Alternate names |
endothelin-converting enzyme 2, EEF1A lysine methyltransferase 4, EEF1AKMT4-ECE2, EEF1AKMT4-ECE2 readthrough transcript protein, |
|
Gene location |
3q27.1 (15562014: 15117222) Exons: 21 NC_000007.14
|
|
OMIM |
610145 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 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 |
|