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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2568
Gene name	Gamma-aminobutyric acid type A receptor subunit pi
Gene symbol	GABRP
Synonyms (NCBI Gene)	-
Chromosome	5
Chromosome location	5q35.1
Summary	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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30826748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar I disorder	Bipolar Disorder	BEFREE	29135068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	25012653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16187283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23819905, 25012653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental caries of smooth surface	Dental caries	GWASCAT_DG	23470693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	38197563	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	38197563	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	32541515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	38197563	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26634217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26634217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16187283, 16322343, 31624295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30826748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16187283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11948410, 16187283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16187283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32541515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30826748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30826748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35846884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	16187283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25012653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31624295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32964961	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

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