| Tdark | Ras GTPase-activating protein 2 |
Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4).
The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1187 | 1.1e-10 |
| ulcerative colitis | 1819 | 4.9e-06 |
| osteosarcoma | 7950 | 1.9e-05 |
| medulloblastoma, large-cell | 6241 | 2.4e-04 |
| cystic fibrosis | 1696 | 2.6e-04 |
| Pick disease | 1894 | 2.9e-04 |
| Duchenne muscular dystrophy | 601 | 3.8e-04 |
| primitive neuroectodermal tumor | 3035 | 6.0e-04 |
| psoriasis | 6694 | 7.5e-04 |
| gastric carcinoma | 807 | 5.2e-03 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 1.0e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 1.1e-02 |
| pancreatic cancer | 2398 | 1.4e-02 |
| Rheumatoid arthritis | 1191 | 3.9e-02 |
| Gaucher disease type 1 | 180 | 3.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Peripheral vascular disease | 87 | 0.0 | 3.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Mutism | 17 | 3.814 | 1.9 |
| Gingival fibromatosis | 14 | 3.491 | 1.7 |
| Kuru | 7 | 3.371 | 1.7 |
| Creutzfeldt-Jakob disease | 21 | 3.34 | 1.7 |
| Variant Creutzfeldt-Jakob disease | 16 | 3.333 | 1.7 |
| Fatal familial insomnia | 10 | 3.301 | 1.7 |
| Coffin-Lowry syndrome | 9 | 3.268 | 1.6 |
| Olfactory neuroblastoma | 4 | 3.25 | 1.6 |
| LEOPARD syndrome | 20 | 3.092 | 1.5 |
| Disease | Target Count |
|---|---|
| Noonan syndrome | 34 |
| Disease | log2 FC | p |
|---|---|---|
| cystic fibrosis | 1.060 | 2.6e-04 |
| Duchenne muscular dystrophy | 1.024 | 3.8e-04 |
| gastric carcinoma | 1.100 | 5.2e-03 |
| Gaucher disease type 1 | -1.300 | 3.9e-02 |
| intraductal papillary-mucinous neoplasm ... | 2.000 | 1.1e-02 |
| juvenile dermatomyositis | 1.536 | 1.1e-10 |
| medulloblastoma, large-cell | -1.200 | 2.4e-04 |
| osteosarcoma | 2.193 | 1.9e-05 |
| pancreatic cancer | 1.300 | 1.4e-02 |
| pancreatic ductal adenocarcinoma liver m... | 1.568 | 1.0e-02 |
| Pick disease | 1.200 | 2.9e-04 |
| primitive neuroectodermal tumor | 1.300 | 6.0e-04 |
| psoriasis | -1.400 | 7.5e-04 |
| Rheumatoid arthritis | 1.300 | 3.9e-02 |
| ulcerative colitis | 1.100 | 4.9e-06 |
MAAAAPAAAAASSEAPAASATAEPEAGDQDSREVRVLQSLRGKICEAKNLLPYLGPHKMRDCFCTINLDQ 1 - 70 EEVYRTQVVEKSLSPFFSEEFYFEIPRTFQYLSFYVYDKNVLQRDLRIGKVAIKKEDLCNHSGKETWFSL 71 - 140 QPVDSNSEVQGKVHLELKLNELITENGTVCQQLVVHIKACHGLPLINGQSCDPYATVSLVGPSRNDQKKT 141 - 210 KVKKKTSNPQFNEIFYFEVTRSSSYTRKSQFQVEEEDIEKLEIRIDLWNNGNLVQDVFLGEIKVPVNVLR 211 - 280 TDSSHQAWYLLQPRDNGNKSSKTDDLGSLRLNICYTEDYVLPSEYYGPLKTLLLKSPDVQPISASAAYIL 281 - 350 SEICRDKNDAVLPLVRLLLHHDKLVPFATAVAELDLKDTQDANTIFRGNSLATRCLDEMMKIVGGHYLKV 351 - 420 TLKPILDEICDSSKSCEIDPIKLKEGDNVENNKENLRYYVDKLFNTIVKSSMSCPTVMCDIFYSLRQMAT 421 - 490 QRFPNDPHVQYSAVSSFVFLRFFAVAVVSPHTFHLRPHHPDAQTIRTLTLISKTIQTLGSWGSLSKSKSS 491 - 560 FKETFMCEFFKMFQEEGYIIAVKKFLDEISSTETKESSGTSEPVHLKEGEMYKRAQGRTRIGKKNFKKRW 561 - 630 FCLTSRELTYHKQPGSKDAIYTIPVKNILAVEKLEESSFNKKNMFQVIHTEKPLYVQANNCVEANEWIDV 631 - 700 LCRVSRCNQNRLSFYHPSVYLNGNWLCCQETGENTLGCKPCTAGVPADIQIDIDEDRETERIYSLFTLSL 701 - 770 LKLQKMEEACGTIAVYQGPQKEPDDYSNFVIEDSVTTFKTIQQIKSIIEKLDEPHEKYRKKRSSSAKYGS 771 - 840 KENPIVGKAS 841 - 850 //
