|
Gene id |
161176 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SYNE3 Gene UCSC Ensembl |
|
Aliases |
C14orf139, C14orf49, KASH3, LINC00341, NCRNA00341, NET53, Nesp3 |
|
Gene name |
spectrin repeat containing nuclear envelope family member 3 |
|
Alternate names |
nesprin-3, KASH domain-containing protein 3, long intergenic non-protein coding RNA 341, nuclear envelope spectrin repeat protein 3, uncharacterized protein C14orf113, |
|
Gene location |
14q32.13 (95516692: 95407265) Exons: 21 NC_000014.9
|
|
OMIM |
610861 |
|
| Associated diseases |
References |
| Connect the differentiating spermatid nucleus to surrounding cytoskeletal structures to enable its well-directed shaping and elongation, which in turn is a critical parameter for male fertility | MIK: 20711465 |
| Connect the differentiating spermatid nucleus to surrounding cytoskeletal structures to enable its well-directed shaping and elongation, which in turn is a critical parameter for male fertility | MIK: 20711465 |
| Cryptorchidism | MIK: 28606200 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 20711465 |
Connect th
e differen
tiating sp
ermatid nu
cleus to s
urrounding
cytoskele
tal struct
ures to en
able its w
ell-direct
ed shaping
and elong
ation, whi
ch in turn
is a crit
ical param
eter for m
ale fertil
ity
|
|
|
|
Male infertility |
|
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 |
|