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 0.006
ependymoma -2.800 0.000
oligodendroglioma -1.600 0.000
psoriasis -1.500 0.000
glioblastoma -3.300 0.000
osteosarcoma 1.985 0.000
group 3 medulloblastoma -2.800 0.001
atypical teratoid / rhabdoid tumor -3.500 0.000
medulloblastoma, large-cell -3.700 0.000
primitive neuroectodermal tumor -2.700 0.000
Atopic dermatitis -1.700 0.000
intraductal papillary-mucinous adenoma (... -2.000 0.001
intraductal papillary-mucinous carcinoma... -2.100 0.001
Hydrolethalus syndrome 1.148 0.039
lung cancer 1.700 0.000
pediatric high grade glioma -2.500 0.000
aldosterone-producing adenoma -1.211 0.015
subependymal giant cell astrocytoma -3.149 0.017
lung carcinoma 1.300 0.000
Pick disease -2.300 0.002
Breast cancer -1.100 0.035
ductal carcinoma in situ -1.500 0.007
ovarian cancer 1.600 0.001

Synonym

Accession P48167 A8K3K2 D3DP23 F5GWE1
Symbols HKPX2

Gene

  TechDev Info (1)

Susumu Tomita Modulator screening/biochemistry

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.
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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.
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