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Aliases & Descriptions for GLRB
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| | | Descriptions |
|---|
| Glycine receptor 58 kDa subunit 3 | | glycine receptor, beta 2 | | glycine receptor, beta subunit 2 |
|
| | Search outside databases for aliases for GLRB genePrevious GC identifers: GC04P158877 GC04P158427 GC04P158574 GC04P158354 |
Summaries for GLRB(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for GLRB: The inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed of alpha (GLRA1, MIM 138491; GLRA2, MIM 305990) and beta subunits.[supplied by OMIM] UniProtKB/Swiss-Prot: GLRB_HUMAN, P48167Function: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)Gene Wiki entry for GLRB |
Genomic Location for GLRB
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the GLRB gene 
Entrez Gene cytogenetic band: 4q31.3 Ensembl cytogenetic band: 4q32.1 HGNC cytogenetic band: 4q31.3GLRB Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P158216:
(about GC identifiers)
Start:
|
158,216,788 bp from pter |
End:
|
158,312,304 bp from pter |
Size:
|
95,517 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000004.10 NT_016354.18
| Proteins for GLRB
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: GLRB_HUMAN, P48167 (See
protein sequence)Recommended Name: Glycine receptor subunit beta precursor Size: 497 amino acids; 56122 Da
Subunit: Pentamer composed of alpha and beta subunits. Interacts with GPHN (By similarity)
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane proteinPost-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000815.1
ENSEMBL proteins: ENSP00000264428
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
): About this table
Antibodies for GLRB: Assays for GLRB: | Protein
Domains/ Families for GLRB(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P48167
ProtoNet protein and cluster: P48167 3 Blocks protein families: IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature IPB006201 Neurotransmitter-gated ion-channel IPB008060 Glycine receptor beta subunit signature
UniProtKB/Swiss-Prot: GLRB_HUMAN, P48167Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family | Gene Function for GLRB
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000824
Applied Biosystems Silencer® siRNAs for GLRB
Sigma-Aldrich siRNA and siRNA Panels for GLRB  Sigma-Aldrich shRNA for GLRB  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000824                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000824                                  untagged cDNA clone in CMV expression vector: NM_000824 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000824
UniProtKB/Swiss-Prot: GLRB_HUMAN, P48167Function: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)Genatlas biochemistry entry for GLRB:glycine receptor,beta subunit11 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Glrb):
5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7
): About this table | Pathways & Interactions for GLRB
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for GLRB 
5/6 Interacting proteins for GLRB (ENSP000002644283) via UniProtKB, MINT, and/or STRING (see all 6
)About this table
5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12
): About this table
|
Drugs & Compounds for GLRB(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Compounds for GLRB available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| Strychnine hydrochloride | Competitive glycine receptor antagonist | [1421-86-9] | | Hypotaurine | Non-selective endogenous glycine receptor agonist | [300-84-5] | | L-Serine | Weak endogenous glycine receptor agonist | [56-45-1] | | Glycine | Endogenous potentiator, co-transmitter | [56-40-6] | | beta-Alanine | Endogenous glycine agonist, more selective than Taurine (Cat. No. 0209) | [107-95-9] | About this table
|
Transcripts for GLRB(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000824
Sigma-Aldrich siRNA and siRNA Panels for GLRB  Sigma-Aldrich shRNA for GLRB  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000824 REFSEQ mRNAs for GLRB gene: NM_000824.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000824               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000824                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000824                                  untagged cDNA clone in CMV expression vector: NM_000824  Additional cDNA sequence: AF094754.1 AF094755.1 AK290617.1 BC022502.1 BC032635.1 U33267.1 6 DOTS entries: DT.411213 DT.75157112 DT.99938014 DT.91749554 DT.95375567 DT.95251107 24/81 AceView cDNA sequences (see all 81
):U33267 BM129318 BI762384 CF265034 AI732779 CD013911 AI300991 BC032635 BF447633 AI734165 AI268011 AA464733 NM_000824 BQ723049 BI552703 AI307336 AA297476 AW189120 AI796407 BI546378 BI913857 BE165514 AW129988 BQ416784
highest scoring ESTs for GLRB:U33267 AA464024 AA464733 AF094754 AF094755 AI205516 AI268011 AI300991 AI307336 AI701428 Unigene Cluster for GLRB: Glycine receptor, beta Hs.32973 [show with all ESTs]Unigene Representative Sequence: NM_000824
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for GLRB
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | - |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for GLRB
1 Ensembl transcript including schematic representation: ENST00000264428
|
Expression for GLRB
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| GLRB expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GLRB
1 / 2 / 3 8 probe-sets matching GLRB gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GATTTCATTT
SOURCE GeneReport for Unigene cluster: Hs.32973
Expression variation in blood from EXPOLDB for GLRB |
Orthologs for GLRB
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GLRB gene from 5/10 species (see all 10
)
About this table Species with no ortholog for GLRB
ENSEMBL Gene Tree for GLRB | Paralogs for GLRB(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for GLRB(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for GLRB (up to first 250kb)
|
Disorders & Mutations for GLRB
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 138492 disorders: 149400 UniProtKB/Swiss-Prot: GLRB_HUMAN, P48167
Defects in GLRB are a cause of startle disease (STHE) [MIM:149400]; also known as hereditary hyperekplexia or congenital stiff-person syndrome. STHE is a genetically heterogeneous neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. Inheritance can be autosomal dominant or recessive1 Novoseek disease relationship for GLRB gene
About this table
GeneTests: GLRB Hyperekplexia Human Gene Mutation Database: GLRB Genetic Association Database: GLRB Human Genome Epidemiology Navigator: GLRB (2 documents)
|
Medical News for GLRB(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for GLRB (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/27 PubMed articles for GLRB gene (see all 27
):- The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism. (PubMed id 9676428)1, 2, 3, 4 Milani N.... Becker C.-M. (1998)
- The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. (PubMed id 8717357)1, 2, 3, 4 Handford C.A....Schofield P.R. (1996)
- Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). (PubMed id 11929858)1, 3, 4 Rees M.I.... Owen M.J. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies. (PubMed id 11496371)3, 6 Sobetzko D....Becker C.M. (2001)
- Identification of a gephyrin binding motif on the glycine receptor beta subunit. (PubMed id 7546736)1, 3 Meyer G....Langosch D. (1995)
- 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. (PubMed id 19086053)3 GratacA^s M....Carracedo A. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)3 Kimura K.... Sugano S. (2006)
- The beta subunit determines the ligand binding properties of synaptic glycine receptors. (PubMed id 15748848)3 Grudzinska J....Laube B. (2005)
- The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. (PubMed id 15215304)3 Harvey K.... Harvey R.J. (2004)
|
Search for GLRB
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing GLRB
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing GLRB
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GLRB(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=GLRB |
|
| | | About This Section
| --
| Services for GLRB(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for GLRB:

 | |
 | | | | |
|
 |  |  |
| | Recombinant Proteins (GLRB) | | Antibodies (GLRB) |
| | | Tocris compounds for GLRB |
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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