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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2568
Gene name Gene Name - the full gene name approved by the HGNC.	Gamma-aminobutyric acid type A receptor subunit pi
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GABRP
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q35.1
Summary Summary of gene provided in NCBI Entrez Gene.	The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues includ

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016992	hsa-miR-335-5p	Microarray	18185580
MIRT1010125	hsa-miR-125a-3p	CLIP-seq
MIRT1010126	hsa-miR-145	CLIP-seq
MIRT1010127	hsa-miR-146a	CLIP-seq
MIRT1010128	hsa-miR-146b-5p	CLIP-seq
MIRT1010129	hsa-miR-2110	CLIP-seq
MIRT1010130	hsa-miR-299-3p	CLIP-seq
MIRT1010131	hsa-miR-29a	CLIP-seq
MIRT1010132	hsa-miR-29b	CLIP-seq
MIRT1010133	hsa-miR-29c	CLIP-seq
MIRT1010134	hsa-miR-3153	CLIP-seq
MIRT1010135	hsa-miR-3667-3p	CLIP-seq
MIRT1010136	hsa-miR-3671	CLIP-seq
MIRT1010137	hsa-miR-3675-5p	CLIP-seq
MIRT1010138	hsa-miR-376a	CLIP-seq
MIRT1010139	hsa-miR-376b	CLIP-seq
MIRT1010140	hsa-miR-3934	CLIP-seq
MIRT1010141	hsa-miR-412	CLIP-seq
MIRT1010142	hsa-miR-4270	CLIP-seq
MIRT1010143	hsa-miR-4271	CLIP-seq
MIRT1010144	hsa-miR-4432	CLIP-seq
MIRT1010145	hsa-miR-4441	CLIP-seq
MIRT1010146	hsa-miR-4468	CLIP-seq
MIRT1010147	hsa-miR-4506	CLIP-seq
MIRT1010148	hsa-miR-4659a-3p	CLIP-seq
MIRT1010149	hsa-miR-4659b-3p	CLIP-seq
MIRT1010150	hsa-miR-4668-5p	CLIP-seq
MIRT1010151	hsa-miR-4712-5p	CLIP-seq
MIRT1010152	hsa-miR-4725-3p	CLIP-seq
MIRT1010153	hsa-miR-4735-5p	CLIP-seq
MIRT1010154	hsa-miR-4764-5p	CLIP-seq
MIRT1010155	hsa-miR-4775	CLIP-seq
MIRT1010156	hsa-miR-548u	CLIP-seq
MIRT1010157	hsa-miR-589	CLIP-seq
MIRT1010158	hsa-miR-590-3p	CLIP-seq
MIRT1010159	hsa-miR-649	CLIP-seq
MIRT1010160	hsa-miR-656	CLIP-seq
MIRT1010161	hsa-miR-759	CLIP-seq
MIRT1010162	hsa-miR-764	CLIP-seq
MIRT1010163	hsa-miR-767-5p	CLIP-seq
MIRT1010164	hsa-miR-770-5p	CLIP-seq
MIRT1010165	hsa-miR-888	CLIP-seq
MIRT1010141	hsa-miR-412	CLIP-seq
MIRT1010148	hsa-miR-4659a-3p	CLIP-seq
MIRT1010149	hsa-miR-4659b-3p	CLIP-seq
MIRT1010153	hsa-miR-4735-5p	CLIP-seq
MIRT1010155	hsa-miR-4775	CLIP-seq
MIRT1010158	hsa-miR-590-3p	CLIP-seq
MIRT1010141	hsa-miR-412	CLIP-seq
MIRT1010148	hsa-miR-4659a-3p	CLIP-seq
MIRT1010149	hsa-miR-4659b-3p	CLIP-seq
MIRT1010153	hsa-miR-4735-5p	CLIP-seq
MIRT1010155	hsa-miR-4775	CLIP-seq
MIRT1010158	hsa-miR-590-3p	CLIP-seq
MIRT1010141	hsa-miR-412	CLIP-seq
MIRT1010148	hsa-miR-4659a-3p	CLIP-seq
MIRT1010149	hsa-miR-4659b-3p	CLIP-seq
MIRT1010153	hsa-miR-4735-5p	CLIP-seq
MIRT1010155	hsa-miR-4775	CLIP-seq
MIRT1010158	hsa-miR-590-3p	CLIP-seq
MIRT1010141	hsa-miR-412	CLIP-seq
MIRT1010148	hsa-miR-4659a-3p	CLIP-seq
MIRT1010149	hsa-miR-4659b-3p	CLIP-seq
MIRT1010153	hsa-miR-4735-5p	CLIP-seq
MIRT1010155	hsa-miR-4775	CLIP-seq
MIRT1010158	hsa-miR-590-3p	CLIP-seq
MIRT1010141	hsa-miR-412	CLIP-seq
MIRT1010148	hsa-miR-4659a-3p	CLIP-seq
MIRT1010149	hsa-miR-4659b-3p	CLIP-seq
MIRT1010153	hsa-miR-4735-5p	CLIP-seq
MIRT1010155	hsa-miR-4775	CLIP-seq
MIRT1010158	hsa-miR-590-3p	CLIP-seq
MIRT1010141	hsa-miR-412	CLIP-seq
MIRT1010148	hsa-miR-4659a-3p	CLIP-seq
MIRT1010149	hsa-miR-4659b-3p	CLIP-seq
MIRT1010153	hsa-miR-4735-5p	CLIP-seq
MIRT1010155	hsa-miR-4775	CLIP-seq
MIRT1010158	hsa-miR-590-3p	CLIP-seq
MIRT1010141	hsa-miR-412	CLIP-seq
MIRT1010148	hsa-miR-4659a-3p	CLIP-seq
MIRT1010149	hsa-miR-4659b-3p	CLIP-seq
MIRT1010153	hsa-miR-4735-5p	CLIP-seq
MIRT2232884	hsa-miR-4773	CLIP-seq
MIRT1010155	hsa-miR-4775	CLIP-seq
MIRT1010158	hsa-miR-590-3p	CLIP-seq
MIRT1010141	hsa-miR-412	CLIP-seq
MIRT1010148	hsa-miR-4659a-3p	CLIP-seq
MIRT1010149	hsa-miR-4659b-3p	CLIP-seq
MIRT1010153	hsa-miR-4735-5p	CLIP-seq
MIRT1010155	hsa-miR-4775	CLIP-seq
MIRT1010158	hsa-miR-590-3p	CLIP-seq

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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	IDA	10462548
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	TAS	9182563
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:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	10462548
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0045202	Component	Synapse	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902711	Component	GABA-A receptor complex	IBA

MIM	HGNC	e!Ensembl
602729	4089	ENSG00000094755

Protein

UniProt ID

O00591

Protein name

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

Protein function

Pi subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA) (PubMed:10462548). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central p

PDB

8VSZ , 8VV0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	40 → 242	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	249 → 365	Neurotransmitter-gated ion-channel transmembrane region	Family

Tissue specificity

TISSUE SPECIFICITY: Most abundant in non-neuronal tissues including the uterus, ovaries and also expressed in lung, thymus and prostate (PubMed:10462548, PubMed:9182563). Expressed in the hippocampus (PubMed:10462548). {ECO:0000269|PubMed:10462548, ECO:00

Sequence

MNYSLHLAFVCLSLFTERMCIQGSQFNVEVGRSDKLSLPGFENLTAGYNKFLRPNFGGEP
VQIALTLDIASISSISESNMDYTATIYLRQRWMDQRLVFEGNKSFTLDARLVEFLWVPDT
YIVESKKSFLHEVTVGNRLIRLFSNGTVLYALRITTTVACNMDLSKYPMDTQTCKLQLES
WGYDGNDVEFTWLRGNDSVRGLEHLRLAQYTIERYFTLVTRSQQETGNYTRLVLQFELRR
NVLYFILETYVPSTFLVVLSWVSFWISLDSVPARTCIGVTTVLSMTTLMIGSRTSLPNTN
CFIKAIDVYLGICFSFVFGALLEYAVAHYSSLQQMAAKDRGTTKEVEEVSITNIINSSIS
SFKRKISFASIEISSDNVDYSDLTMKTSDKFKFVFREKMGRIVDYFTIQNPSNVDHYSKL
LFPLIFMLANVFYWAYYMYF

Sequence length

440

Interactions

View interactions

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

Show/Hide Unknown Diseases (1)

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.
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Brain Neoplasms	Associate	25012653
Breast Neoplasms	Associate	23819905, 25012653
Diabetes Gestational	Inhibit	38197563
Hyperglycemia	Inhibit	38197563
Hypoalphalipoproteinemias	Associate	32541515
Intrahepatic Cholestasis of Pregnancy	Associate	38197563
Lupus Erythematosus Systemic	Associate	26634217
Nasopharyngeal Carcinoma	Associate	32541515
Neoplasms	Associate	25012653
Pancreatic Neoplasms	Associate	35846884
Triple Negative Breast Neoplasms	Associate	25012653
Uterine Cervical Neoplasms	Associate	32964961

GABRP (gamma-aminobutyric acid type A receptor subunit pi)