Gene Page: GABRA6
Summary ?
| GeneID | 2559 |
| Symbol | GABRA6 |
| Synonyms | - |
| Description | gamma-aminobutyric acid type A receptor alpha6 subunit |
| Reference | MIM:137143|HGNC:HGNC:4080|Ensembl:ENSG00000145863|HPRD:08841|Vega:OTTHUMG00000130351 |
| Gene type | protein-coding |
| Map location | 5q34 |
| Pascal p-value | 0.049 |
| Fetal beta | -0.205 |
| eGene | Cerebellar Hemisphere Cerebellum Myers' cis & trans |
| Support | LIGAND GATED ION SIGNALING |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| PMID:cooccur | High-throughput literature-search | Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included. | |
| Association | A combined odds ratio method (Sun et al. 2008), association studies | 2 | Link to SZGene |
| GSMA_I | Genome scan meta-analysis | Psr: 0.0032 | |
| GSMA_IIA | Genome scan meta-analysis (All samples) | Psr: 0.00459 | |
| GSMA_IIE | Genome scan meta-analysis (European-ancestry samples) | Psr: 0.01718 | |
| Literature | High-throughput literature-search | Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenias | Click to show details |
| GO_Annotation | Mapping neuro-related keywords to Gene Ontology annotations | Hits with neuro-related keywords: 4 |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs16829545 | chr2 | 151977407 | GABRA6 | 2559 | 1.743E-4 | trans | ||
| rs6741060 | chr2 | 217169088 | GABRA6 | 2559 | 0.1 | trans | ||
| rs16955618 | chr15 | 29937543 | GABRA6 | 2559 | 0 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0004890 | GABA-A receptor activity | IEA | GABA (GO term level: 7) | - |
| GO:0008503 | benzodiazepine receptor activity | TAS | GABA, Neurotransmitter (GO term level: 6) | 8632757 |
| GO:0005254 | chloride channel activity | IEA | - | |
| GO:0005216 | ion channel activity | IEA | - | |
| GO:0005230 | extracellular ligand-gated ion channel activity | IEA | - | |
| GO:0031404 | chloride ion binding | IEA | - | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0007214 | gamma-aminobutyric acid signaling pathway | IEA | GABA, Neurotransmitter (GO term level: 8) | - |
| GO:0007165 | signal transduction | TAS | 8632757 | |
| GO:0006821 | chloride transport | IEA | - | |
| GO:0006811 | ion transport | IEA | - | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0045211 | postsynaptic membrane | IEA | Synap, Neurotransmitter (GO term level: 5) | - |
| GO:0045202 | synapse | IEA | neuron, Synap, Neurotransmitter, Glial (GO term level: 2) | - |
| GO:0005886 | plasma membrane | IEA | - | |
| GO:0005887 | integral to plasma membrane | TAS | 8632757 | |
| GO:0030054 | cell junction | IEA | - |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| KEGG NEUROACTIVE LIGAND RECEPTOR INTERACTION | 272 | 195 | All SZGR 2.0 genes in this pathway |
| BIOCARTA GABA PATHWAY | 10 | 10 | All SZGR 2.0 genes in this pathway |
| REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES | 186 | 155 | All SZGR 2.0 genes in this pathway |
| REACTOME NEURONAL SYSTEM | 279 | 221 | All SZGR 2.0 genes in this pathway |
| REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL | 137 | 110 | All SZGR 2.0 genes in this pathway |
| REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES | 413 | 270 | All SZGR 2.0 genes in this pathway |
| REACTOME GABA A RECEPTOR ACTIVATION | 12 | 12 | All SZGR 2.0 genes in this pathway |
| REACTOME GABA RECEPTOR ACTIVATION | 52 | 40 | All SZGR 2.0 genes in this pathway |
| REACTOME ION CHANNEL TRANSPORT | 55 | 42 | All SZGR 2.0 genes in this pathway |
| REACTOME LIGAND GATED ION CHANNEL TRANSPORT | 21 | 21 | All SZGR 2.0 genes in this pathway |
| ODONNELL TFRC TARGETS UP | 456 | 228 | All SZGR 2.0 genes in this pathway |
| GAUSSMANN MLL AF4 FUSION TARGETS B UP | 26 | 16 | All SZGR 2.0 genes in this pathway |
| AMUNDSON GENOTOXIC SIGNATURE | 105 | 68 | All SZGR 2.0 genes in this pathway |
| BANDRES RESPONSE TO CARMUSTIN MGMT 48HR DN | 161 | 105 | All SZGR 2.0 genes in this pathway |
| LEIN CEREBELLUM MARKERS | 85 | 47 | All SZGR 2.0 genes in this pathway |
| YOSHIMURA MAPK8 TARGETS UP | 1305 | 895 | All SZGR 2.0 genes in this pathway |
| ZEMBUTSU SENSITIVITY TO METHOTREXATE | 18 | 9 | All SZGR 2.0 genes in this pathway |