Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2563
Gene name Gene Name - the full gene name approved by the HGNC.	Gamma-aminobutyric acid type A receptor subunit delta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GABRD
Synonyms (NCBI Gene) Gene synonyms aliases	EIG10, EJM7, GABAARdelta, GEFSP5
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.33
Summary Summary of gene provided in NCBI Entrez Gene.	Gamma-aminobutyric acid (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 modulated by agents such as benzodiaz

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41307846	G>A	Benign, likely-benign, risk-factor	Coding sequence variant, missense variant
rs121434580	A>C	Risk-factor	Missense variant, coding sequence variant
rs147463074	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs368961588	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IBA
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	TAS	2176788
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	2176788
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	TAS	2176788
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	35355020
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	NAS	28528665
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	28528665, 35355020
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	35355020
GO:1902476	Process	Chloride transmembrane transport	NAS	28528665
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IEA
GO:1902711	Component	GABA-A receptor complex	IPI	35355020
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
137163	4084	ENSG00000187730

Protein

UniProt ID

O14764

Protein name

Gamma-aminobutyric acid receptor subunit delta (GABA(A) receptor subunit delta) (GABAAR subunit delta)

Protein function

Delta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR),

PDB

7QN5 , 7QN6 , 7QN7 , 7QN8 , 7QN9 , 7QNC , 7QND

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	43 → 247	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	254 → 408	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIG
GPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLW
LPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECML
DLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLH
FHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSS
LPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAI
VLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLR
PIDADTIDIYARAVFPAAFAAVNVIYWAAYAM

Sequence length

452

Interactions

View interactions

	KEGG
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse Morphine addiction Nicotine addiction

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Epilepsy	idiopathic generalized epilepsy, epilepsy, Epilepsy, idiopathic generalized, susceptibility to, 10, epilepsy, idiopathic generalized, susceptibility to, 10	N/A	N/A	ClinVar, GenCC
Epileptic encephalopathy	epileptic encephalopathy	N/A	N/A	ClinVar
Generalized Epilepsy with Febrile Seizures Plus	Generalized epilepsy with febrile seizures plus type 5	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	33187258
Autistic Disorder	Associate	25124326
Bipolar Disorder	Associate	31279243
Breast Neoplasms	Associate	34194536
Cleft Palate	Associate	34382870
Colonic Neoplasms	Stimulate	37181811
Colorectal Neoplasms	Associate	32396280
Colorectal Neoplasms	Stimulate	34194536
Developmental Disabilities	Associate	34633442
Epilepsy	Associate	31056551, 34633442, 38458029
Epilepsy Absence	Associate	34633442
Epilepsy Complex Partial	Associate	16452673
Epilepsy Generalized	Associate	16452673, 34633442
Epilepsy Idiopathic Generalized	Associate	16452673
Epileptic Encephalopathy Early Infantile 3	Associate	38458029
Glioma	Associate	31545245, 33969375
Intellectual Disability	Associate	34633442
Lymphoma Non Hodgkin	Associate	31545245
Mood Disorders	Associate	20561060
Myoclonic Epilepsy Juvenile	Associate	16452673
Neoplasms	Associate	26555223, 31545245, 37181811, 37543674
Nervous System Diseases	Associate	25124326
Seizures	Stimulate	33969375
Seizures Febrile	Associate	16452673

GABRD (gamma-aminobutyric acid type A receptor subunit delta)