Gene
GABRA5
gamma-aminobutyric acid type A receptor subunit alpha5
- HGNC 4079↗(opens in a new tab)
- Ensembl gene ENSG00000186297↗(opens in a new tab)
- NCBI Gene 2558↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q12
- Coordinates
- Chromosome 15: 26,867,062–26,949,208 (GRCh38)
- Exons
- 11 exons across 82.1 kb
- Protein
- 462 amino acids
- MANE Select transcript
- ENST00000335625.10NM_000810.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 2 GenCC submitters rate it definitive or strong
How GABRA5 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.6 kb of the gene's 82.1 kb; 1,389 of those bases code for the protein.
How a genome test reads GABRA5
2
positions in GABRA5 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 82.1 kb of GABRA5, introns included, not only the 2.6 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to GABRA5
The Human Phenotype Ontology lists these as features of the rare conditions GABRA5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Autism
- Bilateral tonic-clonic seizure with generalized onset
- CNS hypomyelination
- Epilepsy
- Global developmental delay
- Intellectual disability, severe
- Migrating focal seizure
- Motor delay
Show 30 more traits
- Myoclonic seizure
- Tonic seizure
- Underdevelopment of part of brain called corpus callosum
- Encephalopathy
- Abnormality of coordination
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Decreased reflex response
- Delayed speech and language development
- EEG with multifocal slow activity
- Frontotemporal cerebral atrophy
- Intellectual disability
- Loss of developmental milestones
- Repeated seizures without recovery between them
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Behavioral abnormality
- Brain degeneration
- Degeneration of cerebrum
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Hypsarrhythmia
- Impulsivity
- Involuntary movements
- Jerking
- Mental deterioration
- Tremor
- Unsteady walk
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). GABRA5 gene: gamma-aminobutyric acid type A receptor subunit alpha5. Retrieved 17 October 2026, from https://dantelabs.com/genes/gabra5
Dante Labs. GABRA5 gene: gamma-aminobutyric acid type A receptor subunit alpha5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gabra5
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