| 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 | 1189 | 1.1e-10 |
| osteosarcoma | 7933 | 1.5e-08 |
| ulcerative colitis | 2087 | 4.9e-06 |
| medulloblastoma, large-cell | 6234 | 2.4e-04 |
| cystic fibrosis | 1670 | 2.6e-04 |
| Pick disease | 1893 | 2.9e-04 |
| Duchenne muscular dystrophy | 602 | 3.8e-04 |
| primitive neuroectodermal tumor | 3031 | 6.0e-04 |
| psoriasis | 6685 | 7.5e-04 |
| gastric carcinoma | 832 | 5.2e-03 |
| pancreatic ductal adenocarcinoma liver metastasis | 1795 | 1.0e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3289 | 1.1e-02 |
| pancreatic cancer | 2300 | 1.4e-02 |
| Rheumatoid Arthritis | 1170 | 3.9e-02 |
| Gaucher disease type 1 | 171 | 3.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Peripheral vascular disease | 90 | 0.0 | 2.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Gingival fibromatosis | 13 | 3.649 | 1.8 |
| kuru | 7 | 3.503 | 1.8 |
| Variant Creutzfeldt-Jakob disease | 17 | 3.448 | 1.7 |
| Olfactory neuroblastoma | 5 | 3.4 | 1.7 |
| Coffin-Lowry syndrome | 10 | 3.379 | 1.7 |
| LEOPARD Syndrome | 20 | 3.205 | 1.6 |
| Costello Syndrome | 18 | 3.043 | 1.5 |
| Disease | Target Count |
|---|---|
| Noonan Syndrome | 33 |
| Disease | log2 FC | p |
|---|---|---|
| Rheumatoid Arthritis | 1.300 | 3.9e-02 |
| psoriasis | -1.400 | 7.5e-04 |
| osteosarcoma | 2.865 | 1.5e-08 |
| cystic fibrosis | 1.060 | 2.6e-04 |
| medulloblastoma, large-cell | -1.200 | 2.4e-04 |
| primitive neuroectodermal tumor | 1.300 | 6.0e-04 |
| Duchenne muscular dystrophy | 1.024 | 3.8e-04 |
| juvenile dermatomyositis | 1.536 | 1.1e-10 |
| pancreatic ductal adenocarcinoma liver m... | 1.568 | 1.0e-02 |
| intraductal papillary-mucinous neoplasm ... | 2.000 | 1.1e-02 |
| Pick disease | 1.200 | 2.9e-04 |
| gastric carcinoma | 1.100 | 5.2e-03 |
| ulcerative colitis | 1.100 | 4.9e-06 |
| Gaucher disease type 1 | -1.300 | 3.9e-02 |
| pancreatic cancer | 1.300 | 1.4e-02 |
| PMID | Text | |
|---|---|---|
| 26502337 | Recurrent inactivating RASA2 mutations are associated with melanoma. | |
| 10074452 | GAP1m is a Ras GAP that switches off Ras signalling. GAP1m undergoes a plasma membrane association following growth factor stimulation of PI 3-kinase as a result of its PH domain binding to phosphatidylinositol 3,4,5-trisphosphate. |
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 //
| PMID | Year | Title | |
|---|---|---|---|
| 26502337 | 2015 | Recurrent inactivating RASA2 mutations in melanoma. | |
| 23222517 | 2012 | Seventy-five genetic loci influencing the human red blood cell. | |
| 22814378 | 2012 | N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. | |
| 22223895 | 2012 | Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features. | |
| 22210626 | 2012 | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. | |
| 18029348 | 2008 | Toward a confocal subcellular atlas of the human proteome. | |
| 16641997 | 2006 | The DNA sequence, annotation and analysis of human chromosome 3. | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 10074452 | 1999 | Identification of the ras GTPase-activating protein GAP1(m) as a phosphatidylinositol-3,4,5-trisphosphate-binding protein in vivo. | |
| 9382842 | 1997 | Distinct subcellular localisations of the putative inositol 1,3,4,5-tetrakisphosphate receptors GAP1IP4BP and GAP1m result from the GAP1IP4BP PH domain directing plasma membrane targeting. | |
| 8917095 | 1996 | Human rasGTPase-activating protein (human counterpart of GAP1m): sequence of the cDNA, primary structure of the protein, production and chromosomal localization. | |
| 8812506 | 1996 | cDNA cloning and chromosomal mapping of a novel human GAP (GAP1M), a GTPase-activating protein of Ras. | |
| 8699317 | 1996 | [Heterogeneity of GTPase-activating proteins for Ras in the regulation of Ras signal transduction pathway]. |
