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

2014-11-01  

Identity

HGNC
LOCATION
1p36.33
LOCUSID
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

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

References

Pubmed IDYearTitleCitations
368045722023Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence.0
369235302023The delta subunit of the GABA(A) receptor is necessary for the GPT2-promoted breast cancer metastasis.2
371292902023Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.0
368045722023Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence.0
369235302023The delta subunit of the GABA(A) receptor is necessary for the GPT2-promoted breast cancer metastasis.2
371292902023Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.0
346334422022Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.19
366141622022Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment.0
346334422022Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.19
366141622022Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment.0
338873832021Association between GABA receptor delta subunit gene polymorphisms and heroin addiction.1
341945362021Research for Expression and Prognostic Value of GABRD in Colon Cancer and Coexpressed Gene Network Construction Based on Data Mining.1
338873832021Association between GABA receptor delta subunit gene polymorphisms and heroin addiction.1
341945362021Research for Expression and Prognostic Value of GABRD in Colon Cancer and Coexpressed Gene Network Construction Based on Data Mining.1
315452452019Systemic screening identifies GABRD, a subunit gene of GABAA receptor as a prognostic marker in adult IDH wild-type diffuse low-grade glioma.14

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-(gamma-aminobutyric-acid-type-a-receptor-subunit-delta)