Property Summary

NCBI Gene PubMed Count 24
Grant Count 16
R01 Count 12
Funding $817,073.82
PubMed Score 52.74
PubTator Score 21.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
pilocytic astrocytoma -1.300 0.000
urothelial carcinoma -1.700 0.000
glioblastoma -2.400 0.000
osteosarcoma 1.033 0.001
sonic hedgehog group medulloblastoma -1.300 0.001
medulloblastoma, large-cell -1.700 0.000
primitive neuroectodermal tumor -1.200 0.019
interstitial cystitis -2.500 0.000
cystic fibrosis -1.200 0.000
pediatric high grade glioma -2.100 0.000
subependymal giant cell astrocytoma -2.454 0.018
lung carcinoma 1.600 0.000
Pick disease 1.100 0.011
progressive supranuclear palsy 1.600 0.008
pituitary cancer 1.500 0.000

Gene RIF (12)

PMID Text
25819436 A single PXXP motif in the C-terminal region of srGAP3 mediates binding to multiple SH3 domains.
24561795 Nuclear-localized srGAP3 interacts with Brg1. This interaction is mediated by the C-terminal of srGAP3 and the ATPase motif of Brg1.
24300292 deletion of SRGAP3 provides the most convincing explanation for our patient's phenotype, and our observations lend further weight to a causative role of SRGAP3 haploinsufficiency in mental retardation.
23108406 conclude that srGAP3 has tumor suppressor-like activity in HMECs, likely through its activity as a negative regulator of Rac1
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20035503 Observational study of gene-disease association. (HuGE Navigator)
19760623 Current evidence suggests that SRGAP3 is the major determinant of mental retardation in distal 3p deletions.
19433673 We found no association between SRGAP3/MEGAP haploinsufficiency and mental retardation.
16730001 Data suggest that MEGAP negatively regulates cell migration by perturbing the actin and microtubule cytoskeleton and by hindering the formation of focal complexes.
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AA Sequence

MSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIELEYSRSLEKL      1 - 70
AERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFK     71 - 140
KSKEIGLQMHEELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQ    141 - 210
RRSSVKKIEKMKEKRQAKYSENKLKCTKARNDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLART    211 - 280
FRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPLKFEFQPHMGDEVCQVSAQQP    281 - 350
VQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM    351 - 420
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRPPCLPPKPQKM    421 - 490
RRPRPLSVYSHKLFNGSMEAFIKDSGQAIPLVVESCIRYINLYGLQQQGIFRVPGSQVEVNDIKNSFERG    491 - 560
EDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDLISTIKLENPAERVHQIQQILVTLPRVVIVV    561 - 630
MRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHHEAIFPSPREL    631 - 700
EGPVYEKCMAGGEEYCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGAS    701 - 770
LLLYHRASEDWWEGRHNGVDGLIPHQYIVVQDMDDAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTE    771 - 840
HISDYGFGGVMGRVRLRSDGAAIPRRRSGGDTHSPPRGLGPSIDTPPRAAACPSSPHKIPLTRGRIESPE    841 - 910
KRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEALAEDIEKTMSTALHELRELER    911 - 980
QNTVKQAPDVVLDTLEPLKNPPGPVSSEPASPLHTIVIRDPDAAMRRSSSSSTEMMTTFKPALSARLAGA    981 - 1050
QLRPPPMRPVRPVVQHRSSSSSSSGVGSPAVTPTEKMFPNSSADKSGTM                        1051 - 1099
//

Text Mined References (27)

PMID Year Title
25819436 2015 A single PXXP motif in the C-terminal region of srGAP3 mediates binding to multiple SH3 domains.
24561795 2014 A link between the nuclear-localized srGAP3 and the SWI/SNF chromatin remodeler Brg1.
24300292 2014 Interstitial 3p25 deletion in a patient with features of 3p deletion syndrome: further evidence for the role of SRGAP3 in mental retardation.
23108406 2013 A tumor suppressor role for srGAP3 in mammary epithelial cells.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20035503 2009 Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.
19807924 2009 Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.
19760623 2009 Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
19433673 2009 No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.
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