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β

Family: Glycine receptors

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Tissue Distribution
Physiological Consequences of Altering Gene Expression
Clinically-Relevant Mutations and Pathophysiology
Biologically Significant Variants
References
Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 497 4q31.3 GLRB glycine receptor, beta 7
Mouse 4 496 3 36.0 cM Glrb glycine receptor, beta subunit 12
Rat 4 496 2q33 Glrb glycine receptor, beta 6
Previous and Unofficial Names
Glycine receptor beta
glycine receptor 58 kDa subunit
glycine receptor subunit beta
glycine receptor, beta
glycine receptor, beta subunit
AI853901
spa
Database Links
ChEMBL Target 11167 (Rn)
DrugBank Target 62 (Hs)
Ensembl ENSG00000109738 (Hs), ENSMUSG00000028020 (Mm), ENSRNOG00000010199 (Rn)
Entrez Gene 2743 (Hs), 14658 (Mm), 25456 (Rn)
GeneCards GLRB (Hs)
GenitoUrinary Development Molecular Anatomy Project Glrb (Mm)
HomoloGene 20224
Human Protein Reference Database 11751 (Hs)
InterPro P48167 (Hs), P48168 (Mm), P20781 (Rn)
KEGG Gene hsa:2743 (Hs), mmu:14658 (Mm), rno:25456 (Rn)
OMIM 138492 (Hs)
Orphanet Gene ORPHA122182 (Hs)
PharmGKB Gene PA28730 (Hs)
PhosphoSitePlus P48167 (Hs), P48168 (Mm)
Protein Ontology (PRO) PRO:000008046 (Hs)
RefSeq Nucleotide NM_000824 (Hs), NM_010298 (Mm), NM_053296 (Rn)
RefSeq Protein NP_000815 (Hs), NP_034428 (Mm), NP_445748 (Rn)
TreeFam ENSG00000109738 (Hs), ENSMUSG00000028020 (Mm), ENSRNOG00000010199 (Rn)
UniGene Hs. 32973 (Hs)
UniProt P48167 (Hs), P48168 (Mm), P20781 (Rn)
Wikipedia β
Glycine receptors
Search for 3D structures on the PDB
Search by keyword: Glycine receptors β Search by accession number: P48168, P48167, P20781
Natural/Endogenous Ligand(s)
glycine
Tissue Distribution
retina (inner plexiform layer)
Species:  Mouse
Technique:  Immunocytochemistry
References:  15
wide distribution throughout spinal cord and brain
Species:  Rat
Technique:  In situ hybridisation
References:  10
Retina (entire inner nuclear layer and cells in the ganglion cell layer)
Species:  Rat
Technique:  In situ hybridisation, immunohistochemistry
References:  5
Kupffer cells, neutrophils and macrophages
Species:  Rat
Technique:  RT-PCR
References:  3
neural stem progenitor cells
Species:  Rat
Technique:  RT-PCR
References:  13
cochlea (Organ of Corti, spiral ganglion neurons)
Species:  Rat
Technique:  RT-PCR
References:  2
Tissue Distribution Comments
    The receptor has been detected in other tissues in porcine (pig) for example:
  • detected in retina (subset of cones) using single cell RT-PCR and immunocytochemistry [1], [4].
  • detected in sperm using western blots [11] .
Physiological Consequences of Altering Gene Expression
The spastic mouse exhibits a hyperekplexia phenotype. It is caused by a 7.1 kb line-1 insert into the β subunit that results in aberrant splicing and reduction in functional receptor expression
Species:  Mouse
Tissue: 
Technique:  Naturally occcuring line-1 insertion mutation into the β subunit
References:  8-9,12
Clinically-Relevant Mutations and Pathophysiology
Disease:  A compound heterozygous form of human hyperekplexia
OMIM:  149400
Orphanet:  3197
Comments:  Human hyperekplexia is caused by simultaneous occurrence on separate alleles of a GlyR β subunit missense mutation (G229D) that modestly reduces the glycine sensitivity of α1β GlyRs and a β subunit splice variant that excises exon 5. When present on a single allele, the individual mutations result in no phenotype.
References:  16
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human G229D 16
Biologically Significant Variants
A GlyR β subunit variant, βΔ7 lacks exon 7 which encodes a stretch of 50 amino acids that includes all of the first transmembrane domain. In vitro studies suggest that the protein integrates into the plasma membrane and forms complexes with α1 subunits, but electrophysiological studies suggest that α1βΔ7 heteromers may not be functional.
Type:  Splice variant
Species:  Mouse
References:  14

REFERENCES

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1. Balse, E; Tessier, LH; Forster, V; Roux, MJ; Sahel, JA; Picaud, S. (2006) Glycine receptors in a population of adult mammalian cones. J. Physiol. (Lond.), 571 (Pt 2): 391-401. [PMID:16396929]

2. Dlugaiczyk, J; Singer, W; Schick, B; Iro, H; Becker, K; Becker, CM; Zimmermann, U; Rohbock, K; Knipper, M. (2008) Expression of glycine receptors and gephyrin in the rat cochlea. Histochem. Cell Biol., 129 (4): 513-23. [PMID:18231803]

3. Froh, M; Thurman, RG; Wheeler, MD. (2002) Molecular evidence for a glycine-gated chloride channel in macrophages and leukocytes. Am. J. Physiol. Gastrointest. Liver Physiol., 283 (4): G856-63. [PMID:12223345]

4. Ge, LH; Lee, SC; Liu, J; Yang, XL. (2007) Glycine receptors are functionally expressed on bullfrog retinal cone photoreceptors. Neuroscience, 146 (1): 427-34. [PMID:17346892]

5. Greferath, U; Brandstätter, JH; Wässle, H; Kirsch, J; Kuhse, J; Grünert, U. (1994) Differential expression of glycine receptor subunits in the retina of the rat: a study using immunohistochemistry and in situ hybridization. Vis. Neurosci., 11 (4): 721-9. [PMID:7918222]

6. Grenningloh, G; Pribilla, I; Prior, P; Multhaup, G; Beyreuther, K; Taleb, O; Betz, H. (1990) Cloning and expression of the 58 kd beta subunit of the inhibitory glycine receptor. Neuron, 4 (6): 963-70. [PMID:2163264]

7. Handford, CA; Lynch, JW; Baker, E; Webb, GC; Ford, JH; Sutherland, GR; Schofield, PR. (1996) The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. Brain Res. Mol. Brain Res., 35 (1-2): 211-9. [PMID:8717357]

8. Hartenstein, B; Schenkel, J; Kuhse, J; Besenbeck, B; Kling, C; Becker, CM; Betz, H; Weiher, H. (1996) Low level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic mice. EMBO J., 15 (6): 1275-82. [PMID:8635460]

9. Kingsmore, SF; Giros, B; Suh, D; Bieniarz, M; Caron, MG; Seldin, MF. (1994) Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat. Genet., 7 (2): 136-41. [PMID:7920630]

10. Malosio, ML; Grenningloh, G; Kuhse, J; Schmieden, V; Schmitt, B; Prior, P; Betz, H. (1991) Alternative splicing generates two variants of the alpha 1 subunit of the inhibitory glycine receptor. J. Biol. Chem., 266 (4): 2048-53. [PMID:1703526]

11. Melendrez, CS; Meizel, S. (1996) Immunochemical identification of the glycine receptor/Cl-channel in porcine sperm. Biochem. Biophys. Res. Commun., 223 (3): 675-8. [PMID:8687455]

12. Mülhardt, C; Fischer, M; Gass, P; Simon-Chazottes, D; Guénet, JL; Kuhse, J; Betz, H; Becker, CM. (1994) The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element. Neuron, 13 (4): 1003-15. [PMID:7946325]

13. Nguyen, L; Malgrange, B; Belachew, S; Rogister, B; Rocher, V; Moonen, G; Rigo, JM. (2002) Functional glycine receptors are expressed by postnatal nestin-positive neural stem/progenitor cells. Eur. J. Neurosci., 15 (8): 1299-305. [PMID:11994124]

14. Oertel, J; Villmann, C; Kettenmann, H; Kirchhoff, F; Becker, CM. (2007) A novel glycine receptor beta subunit splice variant predicts an unorthodox transmembrane topology. Assembly into heteromeric receptor complexes. J. Biol. Chem., 282 (5): 2798-807. [PMID:17145751]

15. Pinto, LH; Grünert, U; Studholme, K; Yazulla, S; Kirsch, J; Becker, CM. (1994) Glycine receptors in the retinas of normal and spastic mutant mice. Invest. Ophthalmol. Vis. Sci., 35 (10): 3633-9. [PMID:8088953]

16. Rees, MI; Lewis, TM; Kwok, JB; Mortier, GR; Govaert, P; Snell, RG; Schofield, PR; Owen, MJ. (2002) Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum. Mol. Genet., 11 (7): 853-60. [PMID:11929858]

To cite this database page, please use the following:

Joseph. W. Lynch.
Glycine receptors: β. Last modified on 29/11/2011. Accessed on 24/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=427.


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