Human
GABRB3 - Gamma-aminobutyric Acid Type A Receptor Subunit Beta3
Alias:
ECA5
DEE43
EIEE43
Basic Information
Sequence Homology
Disease & Mutation
Transcripts & Proteins
Gene Expression
Protein Interaction
Related Models
Drugs
References
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Models
Reference
6
9
230212 bp
54.12
2247
5
11
21
GABRB3 Genetics information (-)
GRCh38
Chr : -
Sequence Homology
Selected Gene:
Human:GABRB3
Disease & Mutation
#
Disease
Anatomical Category
Score
Count
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Expression
Alphabetical
Cell-specific RNA expression
Organ
Expression
Alphabetical
Protein Interaction
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Models
Type
Name
MGI
Strain of Origin
Publications
No data available
Drugs
Name
CAS Number
Status
Phase
Link
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
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Variant
Sequence
Comparison
Al agent
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