Property Summary

NCBI Gene PubMed Count 38
PubMed Score 15.94
PubTator Score 29.82

Knowledge Summary

Patent (1,370)

Expression

  Differential Expression (23)

Disease log2 FC p
astrocytic glioma -2.200 5.7e-03
ependymoma -2.800 9.1e-15
oligodendroglioma -1.600 6.1e-12
psoriasis -1.500 3.2e-53
glioblastoma -3.300 4.5e-06
osteosarcoma 1.985 2.7e-04
group 3 medulloblastoma -2.800 6.3e-04
atypical teratoid / rhabdoid tumor -3.500 1.7e-10
medulloblastoma, large-cell -3.700 2.7e-07
primitive neuroectodermal tumor -2.700 5.8e-06
Atopic dermatitis -1.700 2.1e-06
intraductal papillary-mucinous adenoma (... -2.000 6.2e-04
intraductal papillary-mucinous carcinoma... -2.100 1.3e-03
Hydrolethalus syndrome 1.148 3.9e-02
lung cancer 1.700 1.2e-04
pediatric high grade glioma -2.500 5.8e-05
aldosterone-producing adenoma -1.211 1.5e-02
subependymal giant cell astrocytoma -3.149 1.7e-02
lung carcinoma 1.300 1.9e-06
Pick disease -2.300 2.0e-03
Breast cancer -1.100 3.5e-02
ductal carcinoma in situ -1.500 6.8e-03
ovarian cancer 1.600 1.4e-03

Gene RIF (21)

PMID Text
26845851 GLRA1 and GLRB mutations are responsible for abnormal startled reactions in humans. (Review)
26055424 Whole-exome sequencing in ASD patients from each family identified a second rare inherited genetic variant, affecting GLRB expressed in inhibitory or in excitatory synapses.
25531214 The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin.
24108130 p.E375X truncated subunits are incorporated into functional hGlyRs together with unmutated alpha1 or alpha1 plus beta subunits.
23333304 HIV-1 Vif downregulates the expression of glycine receptor, beta subunit (GLRB) in Vif-expression T cells
23238346 Systematic DNA sequencing of GLRB in individuals with hyperekplexia revealed new missense mutations in GLRB, resulting in M177R, L285R and W310C substitutions.
23184146 This study describes the definitive assignment of GLRB as the third major gene for hyperekplexia and impacts on the genetic stratification and biological causation of this neonatal/paediatric disorder.
23182654 We report novel GLRB mutations in hyperekplexia
22606311 investigated neural progenitor cells in respect to their glycine receptor function and subunit expression using electrophysiology, calcium imaging, immunocytochemistry, and quantitative real-time PCR
22535951 Distinct properties of glycine receptor beta+/alpha- interface: unambiguously characterizing heteromeric interface reconstituted in homomeric protein.
22132222 Hereditary hyperekplexia-causing mutations that modify alpha1 beta GlyR channel function are almost exclusively located in the alpha1 to the exclusion of the beta subunit.
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.
21391991 This study presents a large family with Hereditary hyperekplexia (HH) as a result of homozygous mutation in GLRB.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19874574 Observational study of gene-disease association. (HuGE Navigator)
19834535 Observational study of gene-disease association. (HuGE Navigator)
19705103 Report interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study.
19086053 Observational study of gene-disease association. (HuGE Navigator)
14698963 Stoichiometry of recombinant heteromeric glycine receptors revealed by a pore-lining region point mutation
14563849 proton modulation of glycine receptor function is determined by extracellular domain in both the alpha1 and beta subunits
11496371 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MKFLLTTAFLILISLWVEEAYSKEKSSKKGKGKKKQYLCPSQQSAEDLARVPANSTSNILNRLLVSYDPR      1 - 70
IRPNFKGIPVDVVVNIFINSFGSIQETTMDYRVNIFLRQKWNDPRLKLPSDFRGSDALTVDPTMYKCLWK     71 - 140
PDLFFANEKSANFHDVTQENILLFIFRDGDVLVSMRLSITLSCPLDLTLFPMDTQRCKMQLESFGYTTDD    141 - 210
LRFIWQSGDPVQLEKIALPQFDIKKEDIEYGNCTKYYKGTGYYTCVEVIFTLRRQVGFYMMGVYAPTLLI    211 - 280
VVLSWLSFWINPDASAARVPLGIFSVLSLASECTTLAAELPKVSYVKALDVWLIACLLFGFASLVEYAVV    281 - 350
QVMLNNPKRVEAEKARIAKAEQADGKGGNVAKKNTVNGTGTPVHISTLQVGETRCKKVCTSKSDLRSNDF    351 - 420
SIVGSLPRDFELSNYDCYGKPIEVNNGLGKSQAKNNKKPPPAKPVIPTAAKRIDLYARALFPFCFLFFNV    421 - 490
IYWSIYL                                                                   491 - 497
//

Text Mined References (46)

PMID Year Title
26845851 2015 [GLYCINE RECEPTOR: MOLECULAR ORGANIZATION AND PATHOLOGY].
26613940 2015 Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
26055424 2016 GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.
25531214 2014 Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin.
25445488 2015 Functional reconstitution of glycinergic synapses incorporating defined glycine receptor subunit combinations.
24108130 2013 New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
23238346 2013 Novel missense mutations in the glycine receptor ? subunit gene (GLRB) in startle disease.
23184146 2013 GLRB is the third major gene of effect in hyperekplexia.
23182654 2013 A 14-year-old girl with hyperekplexia having GLRB mutations.
22973015 2012 Stoichiometry of the human glycine receptor revealed by direct subunit counting.
22715885 2012 Stoichiometry and subunit arrangement of ?1? glycine receptors as determined by atomic force microscopy.
22606311 2012 Differentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing ?2? subunits.
22535951 2012 Distinct properties of glycine receptor ?+/?- interface: unambiguously characterizing heteromeric interface reconstituted in homomeric protein.
22132222 2011 ? Subunit M2-M3 loop conformational changes are uncoupled from ?1 ? glycine receptor channel gating: implications for human hereditary hyperekplexia.
21829170 2011 Regulation of glycine receptor diffusion properties and gephyrin interactions by protein kinase C.
21391991 2012 Novel mutation in GLRB in a large family with hereditary hyperekplexia.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
19834535 2009 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
19705103 2009 Interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study.
19204413 2009 The nonpsychotropic cannabinoid cannabidiol modulates and directly activates alpha-1 and alpha-1-Beta glycine receptor function.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
19020133 2008 A transmembrane residue influences the interaction of propofol with the strychnine-sensitive glycine alpha1 and alpha1beta receptor.
18985319 2009 Positive allosteric modulatory effects of ajulemic acid at strychnine-sensitive glycine alpha1- and alpha1beta-receptors.
18621921 2008 Identification and spatial distribution of glycine receptor subunits in human sperm.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16144831 2005 Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15748848 2005 The beta subunit determines the ligand binding properties of synaptic glycine receptors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302677 2004 Differential agonist sensitivity of glycine receptor alpha2 subunit splice variants.
15215304 2004 The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
15028279 2004 PCR isolation and cloning of novel splice variant mRNAs from known drug target genes.
14741407 2004 Relaxation of glycine receptor and onconeural gene transcription control in NRSF deficient small cell lung cancer cell lines.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14698963 2003 Stoichiometry of recombinant heteromeric glycine receptors revealed by a pore-lining region point mutation.
14563849 2004 Molecular determinants of proton modulation of glycine receptors.
14551753 2003 Kinetic analysis of recombinant mammalian alpha(1) and alpha(1)beta glycine receptor channels.
12684523 2003 Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11929858 2002 Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).
11496371 2001 Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.
10395998 1999 Expression and localization of the neuronal glycine receptor beta-subunit in human, rabbit and rat kidneys.
9676428 1998 The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism.
8717357 1996 The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes.
7546736 1995 Identification of a gephyrin binding motif on the glycine receptor beta subunit.