Hs02253307_cn

• Gene Symbol: GABRA5
• Assay Reference Genome Location: Chr.15:26867053 on build GRCh38
• Cytoband: 15q12

Target Gene Details

• Entrez Gene ID: 2558
• Gene Name: gamma-aminobutyric acid type A receptor alpha5 subunit
• Gene Aliases: -
• Location: Chr.15:26866719-26949210 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GABRA5	NM_000810.3	1	335	NP_000801.1
	A28104.1	1	101	CAA01920.1
	AK290453.1
	DA157081.1	1	335
	L08485.1	1	109	AAA58490.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2668795	Chr.15:26828644 - 27745218 on Build GRCh38	Deletion	GABRA5 GABRG3 OCA2 GABRG3-AS1
esv23657	Chr.15:26867088 - 26868198 on Build GRCh38	Loss	GABRA5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

behavioral fear response
positive regulation of defense response to virus by host
transport
signal transduction
gamma-aminobutyric acid signaling pathway
chemical synaptic transmission
brain development
sensory perception of sound
associative learning
ion transmembrane transport
negative regulation of neuron apoptotic process
inner ear receptor cell development
innervation
cochlea development
mitophagy in response to mitochondrial depolarization
xenophagy
chloride transmembrane transport

Function(s)

receptor activity
GABA-A receptor activity
transporter activity
extracellular ligand-gated ion channel activity
chloride channel activity
GABA receptor binding