Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2567
Gene name Gene Name - the full gene name approved by the HGNC.
Gamma-aminobutyric acid type A receptor subunit gamma3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GABRG3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be mo
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030026 hsa-miR-26b-5p Microarray 19088304
MIRT1999199 hsa-miR-3591-3p CLIP-seq
MIRT1999200 hsa-miR-450b-5p CLIP-seq
MIRT1999201 hsa-miR-4708-3p CLIP-seq
MIRT2232883 hsa-miR-4275 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004890 Function GABA-A receptor activity IBA 21873635
GO:0005237 Function Inhibitory extracellular ligand-gated ion channel activity IBA 21873635
GO:0005254 Function Chloride channel activity IBA 21873635
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600233 4088 ENSG00000182256
Protein
UniProt ID Q99928
Protein name Gamma-aminobutyric acid receptor subunit gamma-3 (GABA(A) receptor subunit gamma-3) (GABAAR subunit gamma-3)
Protein function Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (By similarity). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 47 253 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 260 461 Neurotransmitter-gated ion-channel transmembrane region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:8719414}.
Sequence
Sequence length 467
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Morphine addiction
Nicotine addiction
  GABA receptor activation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
23535033
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
29221444
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Prostate cancer Prostate carcinoma rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 31095341
Unknown
Disease term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Ovarian cancer Ovarian cancer Conditional KD of IL6 in the OCCA xenograft model delays tumor growth GWAS, CBGDA
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Angelman Syndrome Associate 30826071
Attention Deficit Disorder with Hyperactivity Associate 28607477
Autism Spectrum Disorder Associate 28607477, 35403940
Autistic Disorder Associate 16080114, 25124326, 30108208
Isodicentric Chromosome 15 Syndrome Stimulate 23663378
Nervous System Diseases Associate 25124326
Ovarian Neoplasms Associate 31469419
Psychotic Disorders Associate 20631049