|
Gene id |
11063 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SOX30 Gene UCSC Ensembl |
|
Gene name |
SRY-box transcription factor 30 |
|
Alternate names |
transcription factor SOX-30, SRY (sex determining region Y)-box 30, SRY-box 30, Sox30 protein type II, |
|
Gene location |
5q33.3 (157671479: 157625678) Exons: 7 NC_000085.6
|
|
Gene summary(Entrez) |
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present
|
|
OMIM |
606698 |
|
| Associated diseases |
References |
| Plays a crucial role in speramtogenesis | MIK: 25609838 |
| Spermatogenesis defects | MIK: 29848638 |
| Testis- specific transcription factor spermiogenesis | MIK: 31113793 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Male infertility | MIK: 31835093 |
| Non obstructive azoospermia | MIK: 24012201 |
| Sertoli cell only syndrome | MIK: 23869807 |
| Plays a role during embryogenesis and adult spermatogenesis | MIK: 25609838 |
| Regulator of mouse spermiogenesis | MIK: 29848638 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
| Testis- specific transcription factor Spermiogenesis | MIK: 31113793 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 25609838 |
Plays a ro
le during
embryogene
sis and ad
ult sperma
togenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 31113793 |
Testis- sp
ecific tra
nscription
factor Sp
ermiogenes
is
|
|
|
|
Male infertility |
|
Show abstract |
| 29848638 |
Regulator
of mouse s
permiogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 24012201 |
Non obstru
ctive azoo
spermia
|
|
|
31 (4 controls,
27 cases)
|
Male infertility |
GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 23869807 |
Non obstru
ctive azoo
spermia, S
ertoli cel
l only syn
drome
|
|
|
20 (4 controls,
16 cases)
|
Male infertility |
GSE45887 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 |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
| 31835093 |
Male infer
tility, No
n-obstruct
ive Azoosp
ermia
|
|
|
|
Male infertility |
|
Show abstract |
|