|
Gene id |
6591 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SNAI2 Gene UCSC Ensembl |
|
Aliases |
SLUG, SLUGH, SLUGH1, SNAIL2, WS2D |
|
Gene name |
snail family transcriptional repressor 2 |
|
Alternate names |
zinc finger protein SNAI2, neural crest transcription factor SLUG, protein snail homolog 2, slug (chicken homolog), zinc finger protein, snail family zinc finger 2, snail homolog 2, |
|
Gene location |
8q11.21 (48921428: 48917597) Exons: 3 NC_000001.11
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|
Gene summary(Entrez) |
This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. T
|
|
OMIM |
602150 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Coronary heart disease | GAD: 20634891 |
| Waardenburg syndrome | KEGG: H00759 |
| Piebaldism | KEGG: H00170 |
| Spermatogenesis defects | MIK: 29381885 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Male infertility | MIK: 29381885 |
| Spermatogenic defects | MIK: 31037746 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29381885 |
Important
for Sperma
togenesis,
Male infe
rtility
|
|
|
|
Male infertility |
|
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
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|