|
Gene id |
2054 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
STX2 Gene UCSC Ensembl |
|
Aliases |
EPIM, EPM, STX2A, STX2B, STX2C |
|
Gene name |
syntaxin 2 |
|
Alternate names |
syntaxin-2, epimorphin, |
|
Gene location |
12q24.33 (130839273: 130789599) Exons: 17 NC_000016.10
|
|
Gene summary(Entrez) |
The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal
|
|
OMIM |
132350 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04721 | Synaptic vesicle cycle | | hsa04721 | Synaptic vesicle cycle | | hsa04130 | SNARE interactions in vesicular transport | |
|
| Associated diseases |
References |
| Associated with acrosome reaction | MIK: 15774481 |
| Non obstructive azoospermia | MIK: 29570232 |
| Nonsyndromic maturation arrest with multinucleated spermatocytes | MIK: 29570232 |
| Spermatogenesis defects | MIK: 16710473 |
| Male factor infertility | MIK: 29570232 |
| Associated with acrosome reaction | MIK: 15774481 |
| Spermatogenic defects | MIK: 23595907 |
| Cryptorchidism | MIK: 28606200 |
| Nonsyndromic maturation arrest with multinucleated spermatocytes | MIK: 29570232 |
| Nonobstructive azoospermia | MIK: 29570232 |
| Male infertility | MIK: 29570232 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 16710473 |
Impaired s
peramtogen
esis
|
|
|
|
Male infertility |
|
Show abstract |
| 15774481 |
Associated
with acro
some react
ion
|
|
|
|
Male infertility |
|
Show abstract |
| 23595907 |
Associated
with sper
matogenesi
s
|
|
|
|
Male infertility |
|
Show abstract |
| 29570232 |
Nonsyndrom
ic maturat
ion arrest
with mult
inucleated
spermatoc
ytes, nono
bstructive
azoosperm
ia, male i
nfertility
|
[c.8_12delACCGG, p.(Asp3Alafs*8)] |
Japanes
e
|
131 clinically
diagnosed with
nonobstructive
azoospermia
|
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 |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|