Property Summary

NCBI Gene PubMed Count 57
PubMed Score 370.80
PubTator Score 193.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
osteosarcoma 1.560 1.7e-05
posterior fossa group A ependymoma -1.400 8.5e-10
atypical teratoid / rhabdoid tumor -1.500 1.4e-02
glioblastoma -1.800 5.4e-05
medulloblastoma, large-cell 1.100 5.0e-03
pancreatic ductal adenocarcinoma liver m... -2.439 2.9e-04
tuberculosis 1.200 1.3e-06
pediatric high grade glioma -1.300 7.6e-05
group 4 medulloblastoma 1.200 3.4e-03
subependymal giant cell astrocytoma -2.300 5.8e-03
lung carcinoma 1.100 5.3e-24
Alzheimer's disease -1.100 3.6e-02
Pick disease -1.200 1.5e-04
ductal carcinoma in situ -1.200 3.9e-03
invasive ductal carcinoma -1.300 1.3e-02
ovarian cancer -1.500 1.5e-06

Protein-protein Interaction (3)

Gene RIF (33)

PMID Text
27002143 these data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development.
26613940 A missense mutation of gephyrin that was unable to synthesize MoCo and activate MoCo-dependent enzymes was identified.
25813846 A yin-yang haplotype pattern encompassing gephyrin consists of 284 divergent nucleotide states and both variants vary drastically from their mutual ancestral haplotype, suggesting rapid evolution.
25755278 Results show that PKC-dependent phosphorylation of GAP43 plays a critical role in regulating postsynaptic gephyrin aggregation in developing GABAergic synapses.
25531214 The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin.
24561070 Structural exonic microdeletions affecting the GPHN gene constitute a rare genetic risk factor for IGE and other neuropsychiatric disorders by an impairment of the GABAergic inhibitory synaptic transmission.
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
24128675 abnormal accumulations of gephyrin are highly correlated with the neuropathologic diagnosis of Alzheimer disease in 17 AD versus 14 control cases. Furthermore, gephyrin accumulations were specific for AD.
23408424 Extracellular signal-regulated kinase and glycogen synthase kinase 3beta regulate gephyrin postsynaptic aggregation and GABAergic synaptic function in a calpain-dependent mechanism
23393157 Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
23077067 A reduction in the number of gephyrin clusters in primary neurons reduces GABA signaling.
22778260 Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
22270318 The gephyrin's presence in a cytosolic 600 kDa protein complex suggests that its metabolic and/or other non-neuronal functions are exerted in the cytoplasm and are not confined to a particular subcellular compartment.
21829170 The authors have identified a protein kinase C (PKC) phosphorylation site within the cytoplasmic domain of the beta-subunit of the GlyR (residue S403) that causes a reduction of the binding affinity between the receptor and gephyrin.
21404332 Gephyrin expression is significantly lower in the temporal neocortex of temporal lobe epilepsy (TLE) patients and may be involved in the development of TLE.
21094642 Data demonstrate the direct interaction between DYNLL1 and peptides derived from ASFV p54 and gephyrin interacting sequences.
21071388 we did not obtain evidence for gephyrin gene mutations in patients with temporal lobe epilepsy
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20622020 Study propose that the collybistin-gephyrin complex has an intimate role in the clustering of GABA(A)Rs containing the alpha2 subunit.
20468064 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20206270 Data are consistent with the postsynaptic gephyrin scaffold acting as a platform for protein phosphatase 1 (PP1), which regulates gephyrin cluster size by dephosphorylation of gephyrin- or cytoskeleton-associated proteins.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19874574 Observational study of gene-disease association. (HuGE Navigator)
18334916 Observational study of gene-disease association. (HuGE Navigator)
18315564 Gephyrin plays a role in synaptic function by interacting with GRIP1 splice forms at GABAergic synapses in transfected cultured hippocampal neurons.
17293395 Within clusters, we identified two subpopulations of GlyR with distinct degrees of stabilization between receptors and scaffolding proteins.
14751928 GPHN as an MLL-GPHN chimera is able to transform hematopoietic progenitors; a tubulin-binding domain of GPHN is necessary and sufficient for this activity and also confers oligomerization capacity on MLL protein, which may contribute to leukemogenesis
14622920 Colocalization of immunoreactivities for gephyrin and glycine receptor subunits was detected in the dorsal and ventral horns of the spinal cord, the hypoglossal nucleus and the medial vestibular nucleus of the medulla.
12754701 Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives
12684523 the N10Y mutation and alternative splicing of GPHN transcripts do not affect interactions with glycine receptor but may affect other interactions with the cytoskeleton or gephyrin accessory proteins
12535948 Gephyrin may have a central organizer role in assembling and stabilizing inhibitory postsynaptic membranes in human brain and is similar in function to those observed in the rodent brain.
11554796 crystal structure of N terminal G domain

AA Sequence

MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKETL      1 - 70
IDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL     71 - 140
IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGV    141 - 210
QCEEEEEEKKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLS    211 - 280
TASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDG    281 - 350
MGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCG    351 - 420
ADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGV    421 - 490
TEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNE    491 - 560
GISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVS    561 - 630
AVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRL    631 - 700
MSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL                                      701 - 736
//

Text Mined References (64)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
27002143 2016 IQ Motif and SEC7 Domain-containing Protein 3 (IQSEC3) Interacts with Gephyrin to Promote Inhibitory Synapse Formation.
26613940 2015 Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
25813846 2015 Human gephyrin is encompassed within giant functional noncoding yin-yang sequences.
25755278 2015 Protein kinase C-dependent growth-associated protein 43 phosphorylation regulates gephyrin aggregation at developing GABAergic synapses.
25531214 2014 Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin.
24561070 2014 Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
24297911 2013 Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24128675 2013 Abnormal gephyrin immunoreactivity associated with Alzheimer disease pathologic changes.
23408424 2013 Extracellular signal-regulated kinase and glycogen synthase kinase 3? regulate gephyrin postsynaptic aggregation and GABAergic synaptic function in a calpain-dependent mechanism.
23393157 2013 Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
23290196 2013 A genome-wide association study of depressive symptoms.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23077067 2012 A comprehensive small interfering RNA screen identifies signaling pathways required for gephyrin clustering.
22778260 2012 Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin.
22270318 2012 Expression and subcellular distribution of gephyrin in non-neuronal tissues and cells.
22040219 2011 A GPHN point mutation leading to molybdenum cofactor deficiency.
21829170 2011 Regulation of glycine receptor diffusion properties and gephyrin interactions by protein kinase C.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21404332 2011 Downregulation of gephyrin in temporal lobe epilepsy neurons in humans and a rat model.
21269460 2011 Initial characterization of the human central proteome.
21094642 2011 Structural models of DYNLL1 with interacting partners: African swine fever virus protein p54 and postsynaptic scaffolding protein gephyrin.
21071388 2010 Irregular RNA splicing curtails postsynaptic gephyrin in the cornu ammonis of patients with epilepsy.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20622020 2010 Complex role of collybistin and gephyrin in GABAA receptor clustering.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20206270 2010 Regulation of postsynaptic gephyrin cluster size by protein phosphatase 1.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18403029 2008 Gephyrin: where do we stand, where do we go?
18334916 2008 Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.
18315564 2008 Gephyrin interacts with the glutamate receptor interacting protein 1 isoforms at GABAergic synapses.
17293395 2007 Multiple association states between glycine receptors and gephyrin identified by SPT analysis.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14751928 2004 The small oligomerization domain of gephyrin converts MLL to an oncogene.
14622920 2003 Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.
12967995 2003 Complex formation between the postsynaptic scaffolding protein gephyrin, profilin, and Mena: a possible link to the microfilament system.
12754701 2003 Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
12684523 2003 Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
12535948 2003 Distribution of gephyrin in the human brain: an immunohistochemical analysis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12097491 2002 Gephyrin interacts with Dynein light chains 1 and 2, components of motor protein complexes.
11727829 2001 Identification of a gephyrin-binding motif in the GDP/GTP exchange factor collybistin.
11554796 2001 Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications.
11418245 2001 The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells.
11095995 2001 A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.
10947798 2000 Mini-review: gephyrin, a major postsynaptic protein of GABAergic synapses.
10900017 2000 The gamma-aminobutyric acid type A receptor (GABAAR)-associated protein GABARAP interacts with gephyrin but is not involved in receptor anchoring at the synapse.
10839351 2000 Autoimmunity to gephyrin in Stiff-Man syndrome.
10718198 2000 Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
10607391 2000 Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin.
10325225 1999 Interaction of RAFT1 with gephyrin required for rapamycin-sensitive signaling.
10037506 1999 Hydrophobic interactions mediate binding of the glycine receptor beta-subunit to gephyrin.
9990024 1999 The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells.
9473484 1998 Interactions of drebrin and gephyrin with profilin.
7546736 1995 Identification of a gephyrin binding motif on the glycine receptor beta subunit.
1657993 1991 The 93-kDa glycine receptor-associated protein binds to tubulin.
1319186 1992 Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein.