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β
| Structural Information |
| Species |
TM |
AA |
Chromosomal Location |
Gene Name |
Reference |
| Human |
4 |
497 |
4q31.3 |
GLRB
|
60 |
| Rat |
4 |
496 |
2q33 |
Glrb
|
61 |
| Mouse |
4 |
496 |
3 36.0 cM |
Glrb
|
62 |
|
|
| Database Links |
|
ChEMBL Target |
11167 (Rn) |
|
Ensembl |
ENSG00000109738 (Hs), ENSMUSG00000028020 (Mm), ENSRNOG00000010199 (Rn) |
|
Entrez Gene |
2743 (Hs), 14658 (Mm), 25456 (Rn) |
|
GeneCards |
GLRB (Hs) |
|
HomoloGene |
20224 |
|
OMIM |
138492 (Hs) |
|
PharmGKB Gene |
PA28730 (Hs) |
|
RefSeq Nucleotide |
NM_000824 (Hs), NM_010298 (Mm), NM_053296 (Rn) |
|
RefSeq Protein |
NP_000815 (Hs), NP_034428 (Mm), NP_445748 (Rn) |
|
UniGene Hs. |
32973 (Hs) |
|
UniProt |
P48167 (Hs), P48168 (Mm), P20781 (Rn) |
|
Wikipedia |
β |
| Search for 3D structures on the PDB |
|
Search using keywords: Glycine receptors beta
|
Search using accession numbers: P48168 || P48167 || P20781
|
| Tissue Distribution
|
| wide distribution throughout spinal cord and brain |
| Species: |
Rat |
| Technique: |
In situ hybridisation |
| References: |
16 |
|
|
| Retina (entire inner nuclear layer and cells in the ganglion cell layer) |
| Species: |
Rat |
| Technique: |
In situ hybridisation, immunohistochemistry |
| References: |
36 |
|
|
| retina (inner plexiform layer) |
| Species: |
Mouse |
| Technique: |
Immunocytochemistry |
| References: |
66 |
|
|
| Kupffer cells, neutrophils and macrophages |
| Species: |
Rat |
| Technique: |
RT-PCR |
| References: |
38 |
|
|
| neural stem progenitor cells |
| Species: |
Rat |
| Technique: |
RT-PCR |
| References: |
39 |
|
|
| cochlea (Organ of Corti, spiral ganglion neurons) |
| Species: |
Rat |
| Technique: |
RT-PCR |
| References: |
54 |
|
|
| 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 [57], [58].
- detected in sperm using western blots [59] .
|
| 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: |
62-64 |
|
|
| Clinically-Relevant Mutations
|
| Disease: |
A compound heterozygous form of human hyperekplexia |
| OMIM: |
149400 |
| 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: |
65 |
|
|
Click column headers to sort
|
|
|
|
| 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: |
67 |
|
|
To cite this receptor data page, please use the following:
Joseph. W. Lynch.
Glycine receptors: β. Last modified on 2010-07-01. Accessed on 2010-09-03. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=427.
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