|
Gene id |
9580 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SOX13 Gene UCSC Ensembl |
|
Aliases |
ICA12, Sox-13 |
|
Gene name |
SRY-box transcription factor 13 |
|
Alternate names |
transcription factor SOX-13, SRY (sex determining region Y)-box 13, SRY-box 13, SRY-related HMG-box gene 13, islet cell antibody 12, islet cell antigen 12, type 1 diabetes autoantigen ICA12, |
|
Gene location |
1q32.1 (204073095: 204127742) Exons: 14 NC_000086.7
|
|
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 cell fate. The encoded protein may act as a transcriptional regulator after forming
|
|
OMIM |
604748 |
|
| Associated diseases |
References |
| Hypertension | GAD: 19536175 |
| May regulate steroidogenesis and spermatogenesis | MIK: 26045173 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 26045173 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 26045173 |
May regula
te steroid
ogenesis a
nd spermat
ogenesis
|
|
|
|
Male infertility |
|
Show 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 |
|