• Gene id: 2563

Gene Summary

• Gene Symbol: GABRD   Gene   UCSC   Ensembl
• Aliases: EIG10, EJM7, GEFSP5
• Gene name: gamma-aminobutyric acid type A receptor subunit delta
• Alternate names: gamma-aminobutyric acid receptor subunit delta, GABA(A) receptor subunit delta, GABA(A) receptor, delta, GABA-A receptor, delta polypeptide, gamma-aminobutyric acid (GABA) A receptor, delta, gamma-aminobutyric acid type A receptor delta subunit,
• Gene location: 1p36.33 (2019344: 2030757)     Exons: 10     NC_000001.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: O14764  
  • Name: Gamma aminobutyric acid receptor subunit delta (GABA(A) receptor subunit delta)
  • Length: 452  
  • Mass: 50708
• Sequence:

  MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASI
  DHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDG
  VILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTEL
  MNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSS
  LPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELA
  ISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAY
  AM

• Structural information:
  • Interpro: IPR006028  IPR008098  IPR006202  IPR036734  IPR006201   IPR036719  IPR006029  IPR018000  
  • Prosite: PS00236
  • STRING: ENSP00000367848
• Other Databases: GeneCards:  GABRD  Malacards:  GABRD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050877	nervous system process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0004890	GABA-A receptor activity	IBA	contributes to
GO:0045202	synapse	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004890	GABA-A receptor activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0050877	nervous system process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0004890	GABA-A receptor activity	IBA	contributes to
GO:0045202	synapse	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004890	GABA-A receptor activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004890	GABA-A receptor activity	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04723	Retrograde endocannabinoid signaling
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Febrile seizures	KEGG:H00783
Juvenile myoclonic epilepsy	KEGG:H02217
Idiopathic generalized epilepsies	KEGG:H00808
Febrile seizures	KEGG:H00783
Juvenile myoclonic epilepsy	KEGG:H02217
Idiopathic generalized epilepsies	KEGG:H00808
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881