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

2014-11-01  

Identity

HGNC
GABRD
LOCATION
1p36.33
LOCUSID
2563
ALIAS
EIG10,EJM7,GEFSP5

Other Information

Locus ID:

NCBI: 2563
MIM: 137163
HGNC: 4084
Ensembl: ENSG00000187730

Variants:

dbSNP: 2563
ClinVar: 2563
TCGA: ENSG00000187730
COSMIC: GABRD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187730ENST00000378585O14764
ENSG00000187730ENST00000638411A0A1W2PPP1
ENSG00000187730ENST00000638763A0A1W2PR72
ENSG00000187730ENST00000638771A0A1W2PRC4
ENSG00000187730ENST00000638804A0A1W2PQT2
ENSG00000187730ENST00000639045A0A1W2PQZ5
ENSG00000187730ENST00000640030A0A1W2PPH3
ENSG00000187730ENST00000640067A0A1W2PQR3
ENSG00000187730ENST00000640949A0A1W2PRY7
ENSG00000187730ENST00000640981A0A1W2PP88

Expression (GTEx)

0
100
200
300
400
500
600
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
217956192011Molecular basis for the high THIP/gaboxadol sensitivity of extrasynaptic GABA(A) receptors.81
192894522009Altered markers of tonic inhibition in the dorsolateral prefrontal cortex of subjects with schizophrenia.46
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
205610602010Association of the GABRD gene and childhood-onset mood disorders.18
205610602010Association of the GABRD gene and childhood-onset mood disorders.18
237564802013The quest for juvenile myoclonic epilepsy genes.14
290204122017Emerging Role of One-Carbon Metabolism and DNA Methylation Enrichment on δ-Containing GABAA Receptor Expression in the Cerebellum of Subjects with Alcohol Use Disorders (AUD).10
160238322005Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.5
242495962014Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population.3

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63652/gabrd