|
Gene id |
253260 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
RICTOR Gene UCSC Ensembl |
|
Aliases |
AVO3, PIA, hAVO3 |
|
Gene name |
RPTOR independent companion of MTOR complex 2 |
|
Alternate names |
rapamycin-insensitive companion of mTOR, AVO3 homolog, TORC2-specific protein AVO3, pianissimo, |
|
Gene location |
5p13.1 (39074420: 38937919) Exons: 41 NC_000009.12
|
|
Gene summary(Entrez) |
RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]
|
|
OMIM |
609022 |
|
| Pathway id | Pathway name |
|---|
| hsa04150 | mTOR signaling pathway | | hsa04150 | mTOR signaling pathway | |
|
| Associated diseases |
References |
| Head and neck cancer | GAD: 20819778 |
| Plays a crucial role in speramtogenesis | MIK: 29070461 |
| Role in sertoli cell function and spermatogenesis through the maintenance of sertoli cell cytoskeletal dynamics, BTB integrity, and cell polarity | MIK: 26360620 |
| Plays a role in normal spermatogenesis | MIK: 29070461 |
| Male infertility | MIK: 29070461 |
| Role in Sertoli cell function and spermatogenesis through the maintenance of Sertoli cell cytoskeletal dynamics, BTB integrity, and cell polarity | MIK: 26360620 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29070461 |
Plays a ro
le in norm
al spermat
ogenesis,
Male infer
tility
|
|
|
|
Male infertility |
|
Show abstract |
| 26360620 |
Role in Se
rtoli cell
function
and sperma
togenesis
through th
e maintena
nce of Ser
toli cell
cytoskelet
al dynamic
s, BTB int
egrity, an
d cell pol
arity
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|