|
Gene id |
2319 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
FLOT2 Gene UCSC Ensembl |
|
Aliases |
ECS-1, ECS1, ESA, ESA1, M17S1 |
|
Gene name |
flotillin 2 |
|
Alternate names |
flotillin-2, Flotillin 2 (epidermal surface antigen 1), epidermal surface antigen, membrane component chromosome 17 surface marker 1, membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1), |
|
Gene location |
17q11.2 (28897732: 28879338) Exons: 13 NC_000002.12
|
|
Gene summary(Entrez) |
Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, J
|
|
OMIM |
131560 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04910 | Insulin signaling pathway | | hsa04910 | Insulin signaling pathway | |
|
| Associated diseases |
References |
| Acrosome biogenesis | MIK: 26313572 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Acrosome biogenesis | MIK: 26313572 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 26313572 |
Acrosome b
iogenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 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 |
|