Property Summary

NCBI Gene PubMed Count 24
Grant Count 13
R01 Count 13
Funding $1,500,074.93
PubMed Score 32.02
PubTator Score 27.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
malignant mesothelioma 3.800 0.000
astrocytic glioma -1.300 0.005
ependymoma -1.500 0.014
psoriasis -1.900 0.000
glioblastoma -2.200 0.001
osteosarcoma -1.056 0.001
atypical teratoid / rhabdoid tumor -1.800 0.000
medulloblastoma, large-cell -1.500 0.001
primitive neuroectodermal tumor -1.300 0.001
lung cancer -1.200 0.003
adult high grade glioma -1.600 0.000
group 3 medulloblastoma 1.200 0.025
subependymal giant cell astrocytoma -1.969 0.007
lung carcinoma 2.400 0.000
Pick disease -1.700 0.003

Gene RIF (12)

PMID Text
25898924 Collybistin forms a complex with mTOR and eIF3 and by sequestering these proteins downregulates mTORC1 signaling and protein synthesis potentially contributing to intellectual disability and autism.
25678704 Impairment of the membrane lipid binding activity of Collybistin R290H and a consequent defect in inhibitory synapse maturation represent a likely molecular pathomechanism of epilepsy and mental retardation in humans.
24297911 The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors
22778260 Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
22033413 These results reveal that G(s) and G(q) signalings regulate hPEM-2 functions through PKA and c-Src in Neuro-2a neuroblastoma cells, respectively.
21807943 major regulator of GABAergic postsynaptic gephyrin clustering
21633362 Data indicate that ARHGEF9 is likely to be responsible for syndromic X-linked mental retardation associated with epilepsy.
20622020 Study propose that the collybistin-gephyrin complex has an intimate role in the clustering of GABA(A)Rs containing the alpha2 subunit.
19911011 Observational study of gene-disease association. (HuGE Navigator)
18208356 Results show that hPEM-2 is a target protein of Smurf1.
More...

AA Sequence

MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQED      1 - 70
EVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMF     71 - 140
SDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSK    141 - 210
LMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNV    211 - 280
TQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLC    281 - 350
KKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAF    351 - 420
REERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDGIAQSQ    421 - 490
VFEFTEPKRSQSPFWQNFSRLTPFKK                                                491 - 516
//

Text Mined References (26)

PMID Year Title
25898924 2016 Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.
25678704 2015 Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.
24297911 2013 Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.
23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
22778260 2012 Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22033413 2011 Gs and Gq signalings regulate hPEM-2-induced cell responses in Neuro-2a cells.
21807943 2011 Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses.
21633362 2011 Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
20622020 2010 Complex role of collybistin and gephyrin in GABAA receptor clustering.
More...