GLRB (glycine receptor beta)

2014-11-01  

Identity

HGNC
GLRB
LOCATION
4q32.1
LOCUSID
2743
ALIAS
HKPX2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2743
MIM: 138492
HGNC: 4329
Ensembl: ENSG00000109738

Variants:

dbSNP: 2743
ClinVar: 2743
TCGA: ENSG00000109738
COSMIC: GLRB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109738ENST00000264428P48167
ENSG00000109738ENST00000506411D6R9Y9
ENSG00000109738ENST00000509282P48167
ENSG00000109738ENST00000512619D6RD86
ENSG00000109738ENST00000515642D6R9Y9
ENSG00000109738ENST00000541722P48167

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ligand-gated ion channel transportREACTOMER-HSA-975298

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10344acamprosateChemicalLiterature, MultilinkAnnotationnot associated25290263

References

Pubmed IDYearTitleCitations
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
190860532009Identification 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.34
218291702011Regulation of glycine receptor diffusion properties and gephyrin interactions by protein kinase C.32
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
146989632003Stoichiometry of recombinant heteromeric glycine receptors revealed by a pore-lining region point mutation.25
241081302013New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.22
232383462013Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.20
255312142014Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin.18
231841462013GLRB is the third major gene of effect in hyperekplexia.17

Citation

Dessen P

GLRB (glycine receptor beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63828/glrb