Property Summary

NCBI Gene PubMed Count 24
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 9.1e-09
astrocytic glioma -1.300 5.1e-03
ependymoma -1.500 1.4e-02
psoriasis -1.900 1.9e-05
glioblastoma -2.200 1.3e-03
osteosarcoma -1.056 1.4e-03
atypical teratoid / rhabdoid tumor -1.800 4.4e-05
medulloblastoma, large-cell -1.500 8.5e-04
primitive neuroectodermal tumor -1.300 6.6e-04
lung cancer -1.200 3.3e-03
adult high grade glioma -1.600 1.1e-04
group 3 medulloblastoma 1.200 2.5e-02
subependymal giant cell astrocytoma -1.969 7.0e-03
lung carcinoma 2.400 2.6e-41
Pick disease -1.700 3.1e-03

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.
15215304 translocates gephyrin to submembrane microaggregates; collybistin mutation (G55A)is found in exon 2 of the ARHGEF9 gene in a patient with clinical symptoms of both hyperekplexia and epilepsy
11727829 Here we identified residues critical for interaction with gephyrin in the linker region between the SH3 and the DH domains of collybistin.

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.
19911011 2010 Mutation of ARHGAP9 in patients with coronary spastic angina.
18208356 2008 Smurf1 directly targets hPEM-2, a GEF for Cdc42, via a novel combination of protein interaction modules in the ubiquitin-proteasome pathway.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15215304 2004 The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12787561 Ten years on: mediation of cell death by the common neurotrophin receptor p75(NTR).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12376548 2002 NRAGE, a p75 neurotrophin receptor-interacting protein, induces caspase activation and cell death through a JNK-dependent mitochondrial pathway.
11756498 2002 Activation of Rac GTPase by p75 is necessary for c-jun N-terminal kinase-mediated apoptosis.
11727829 2001 Identification of a gephyrin-binding motif in the GDP/GTP exchange factor collybistin.
10607391 2000 Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin.
10559246 1999 Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42.
9455477 1997 Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.