| Tchem | GRB10-interacting GYF protein 2 |
Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931). In 4EHP-GYF2 the complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (By similarity). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153).
This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neurodevelopmental Disorders | 70 | 0.0 | 0.0 |
| PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | 1 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Autosomal dominant late onset Parkinson disease | 7 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 2.8e-08 |
| ovarian cancer | 8520 | 1.0e-07 |
| tuberculosis | 2010 | 1.3e-05 |
| Breast cancer | 3578 | 4.8e-05 |
| primitive neuroectodermal tumor | 3035 | 3.3e-02 |
| spina bifida | 1074 | 4.7e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Parkinson's disease | 392 | 4.715 | 2.4 |
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Essential tremor | 28 | 3.015 | 1.5 |
| Disease | Target Count |
|---|---|
| Leber congenital amaurosis 16 | 5 |
| Parkinson disease 11 | 1 |
| Vitreoretinal Degeneration, Snowflake Type | 2 |
| Disease | log2 FC | p |
|---|---|---|
| Breast cancer | -1.100 | 4.8e-05 |
| osteosarcoma | -2.807 | 2.8e-08 |
| ovarian cancer | -1.300 | 1.0e-07 |
| primitive neuroectodermal tumor | 1.200 | 3.3e-02 |
| spina bifida | -1.622 | 4.7e-02 |
| tuberculosis | -1.500 | 1.3e-05 |
MAAETQTLNFGPEWLRALSSGGSITSPPLSPALPKYKLADYRYGREEMLALFLKDNKIPSDLLDKEFLPI 1 - 70 LQEEPLPPLALVPFTEEEQRNFSMSVNSAAVLRLTGRGGGGTVVGAPRGRSSSRGRGRGRGECGFYQRSF 71 - 140 DEVEGVFGRGGGREMHRSQSWEERGDRRFEKPGRKDVGRPNFEEGGPTSVGRKHEFIRSESENWRIFREE 141 - 210 QNGEDEDGGWRLAGSRRDGERWRPHSPDGPRSAGWREHMERRRRFEFDFRDRDDERGYRRVRSGSGSIDD 211 - 280 DRDSLPEWCLEDAEEEMGTFDSSGAFLSLKKVQKEPIPEEQEMDFRPVDEGEECSDSEGSHNEEAKEPDK 281 - 350 TNKKEGEKTDRVGVEASEETPQTSSSSARPGTPSDHQSQEASQFERKDEPKTEQTEKAEEETRMENSLPA 351 - 420 KVPSRGDEMVADVQQPLSQIPSDTASPLLILPPPVPNPSPTLRPVETPVVGAPGMGSVSTEPDDEEGLKH 421 - 490 LEQQAEKMVAYLQDSALDDERLASKLQEHRAKGVSIPLMHEAMQKWYYKDPQGEIQGPFNNQEMAEWFQA 491 - 560 GYFTMSLLVKRACDESFQPLGDIMKMWGRVPFSPGPAPPPHMGELDQERLTRQQELTALYQMQHLQYQQF 561 - 630 LIQQQYAQVLAQQQKAALSSQQQQQLALLLQQFQTLKMRISDQNIIPSVTRSVSVPDTGSIWELQPTASQ 631 - 700 PTVWEGGSVWDLPLDTTTPGPALEQLQQLEKAKAAKLEQERREAEMRAKREEEERKRQEELRRQQEEILR 701 - 770 RQQEEERKRREEEELARRKQEEALRRQREQEIALRRQREEEERQQQEEALRRLEERRREEEERRKQEELL 771 - 840 RKQEEEAAKWAREEEEAQRRLEENRLRMEEEAARLRHEEEERKRKELEVQRQKELMRQRQQQQEALRRLQ 841 - 910 QQQQQQQLAQMKLPSSSTWGQQSNTTACQSQATLSLAEIQKLEEERERQLREEQRRQQRELMKALQQQQQ 911 - 980 QQQQKLSGWGNVSKPSGTTKSLLEIQQEEARQMQKQQQQQQQHQQPNRARNNTHSNLHTSIGNSVWGSIN 981 - 1050 TGPPNQWASDLVSSIWSNADTKNSNMGFWDDAVKEVGPRNSTNKNKNNASLSKSVGVSNRQNKKVEEEEK 1051 - 1120 LLKLFQGVNKAQDGFTQWCEQMLHALNTANNLDVPTFVSFLKEVESPYEVHDYIRAYLGDTSEAKEFAKQ 1121 - 1190 FLERRAKQKANQQRQQQQLPQQQQQQPPQQPPQQPQQQDSVWGMNHSTLHSVFQTNQSNNQQSNFEAVQS 1191 - 1260 GKKKKKQKMVRADPSLLGFSVNASSERLNMGEIETLDDY 1261 - 1299 //
