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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9568
Gene name	Gamma-aminobutyric acid type B receptor subunit 2
Gene symbol	GABBR2
Synonyms (NCBI Gene)	DEE59EIEE59GABABR2GPR51GPRC3BHG20HRIHFB2099NDPLHS
Chromosome	9
Chromosome location	9q22.33
Summary	The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the re

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2184026	C>G,T	Risk-factor	Genic upstream transcript variant, intron variant
rs2491397	C>T	Risk-factor	Intron variant
rs3750344	T>C,G	Risk-factor	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs922847767	C>T	Pathogenic	Missense variant, coding sequence variant
rs1554689313	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554689315	A>T	Pathogenic	Coding sequence variant, missense variant
rs1554689319	C>A	Pathogenic	Coding sequence variant, missense variant
rs1554689320	C>A	Pathogenic	Coding sequence variant, missense variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022745	hsa-miR-124-3p	Microarray	18668037
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT613027	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	27418678
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	27418678
MIRT613025	hsa-miR-507	HITS-CLIP	27418678
MIRT613025	hsa-miR-507	HITS-CLIP	27418678
MIRT613024	hsa-miR-557	HITS-CLIP	27418678
MIRT613024	hsa-miR-557	HITS-CLIP	27418678
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT1009515	hsa-miR-1825	CLIP-seq
MIRT1009516	hsa-miR-1915	CLIP-seq
MIRT1009517	hsa-miR-1972	CLIP-seq
MIRT1009518	hsa-miR-3120-5p	CLIP-seq
MIRT1009519	hsa-miR-345	CLIP-seq
MIRT1009520	hsa-miR-3926	CLIP-seq
MIRT1009521	hsa-miR-4726-3p	CLIP-seq
MIRT1009522	hsa-miR-541	CLIP-seq
MIRT1009523	hsa-miR-548s	CLIP-seq
MIRT1009524	hsa-miR-654-5p	CLIP-seq
MIRT1999113	hsa-miR-1207-5p	CLIP-seq
MIRT1999114	hsa-miR-1909	CLIP-seq
MIRT1999115	hsa-miR-224	CLIP-seq
MIRT1999116	hsa-miR-3202	CLIP-seq
MIRT1999117	hsa-miR-3661	CLIP-seq
MIRT1999118	hsa-miR-3973	CLIP-seq
MIRT1999119	hsa-miR-4533	CLIP-seq
MIRT1999120	hsa-miR-4652-5p	CLIP-seq
MIRT1999121	hsa-miR-4763-3p	CLIP-seq
MIRT1999122	hsa-miR-520g	CLIP-seq
MIRT1999123	hsa-miR-520h	CLIP-seq
MIRT1999124	hsa-miR-631	CLIP-seq
MIRT2232804	hsa-miR-1208	CLIP-seq
MIRT2232805	hsa-miR-1263	CLIP-seq
MIRT2232806	hsa-miR-147	CLIP-seq
MIRT1009515	hsa-miR-1825	CLIP-seq
MIRT1009516	hsa-miR-1915	CLIP-seq
MIRT1009517	hsa-miR-1972	CLIP-seq
MIRT2232807	hsa-miR-2110	CLIP-seq
MIRT2232808	hsa-miR-2113	CLIP-seq
MIRT1009518	hsa-miR-3120-5p	CLIP-seq
MIRT2232809	hsa-miR-3150a-3p	CLIP-seq
MIRT2232810	hsa-miR-3179	CLIP-seq
MIRT2232811	hsa-miR-3183	CLIP-seq
MIRT1999116	hsa-miR-3202	CLIP-seq
MIRT1009519	hsa-miR-345	CLIP-seq
MIRT2232812	hsa-miR-4260	CLIP-seq
MIRT2232813	hsa-miR-4271	CLIP-seq
MIRT2232814	hsa-miR-4420	CLIP-seq
MIRT2232815	hsa-miR-4468	CLIP-seq
MIRT2232816	hsa-miR-452	CLIP-seq
MIRT2232817	hsa-miR-4676-3p	CLIP-seq
MIRT2232818	hsa-miR-4723-3p	CLIP-seq
MIRT2232819	hsa-miR-4725-3p	CLIP-seq
MIRT1009521	hsa-miR-4726-3p	CLIP-seq
MIRT2232820	hsa-miR-4747-5p	CLIP-seq
MIRT2232821	hsa-miR-4753-3p	CLIP-seq
MIRT2232822	hsa-miR-4782-5p	CLIP-seq
MIRT2232823	hsa-miR-520d-5p	CLIP-seq
MIRT2232824	hsa-miR-524-5p	CLIP-seq
MIRT2232825	hsa-miR-9	CLIP-seq
MIRT2232826	hsa-miR-939	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004965	Function	G protein-coupled GABA receptor activity	IDA	9872316
GO:0004965	Function	G protein-coupled GABA receptor activity	IEA
GO:0004965	Function	G protein-coupled GABA receptor activity	TAS	10328880
GO:0005515	Function	Protein binding	IPI	16724110, 24305054, 24658140, 32555460, 32580208, 32581365, 37207277
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	9872316, 15304491
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10328880
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	9872316
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	987231
GO:0007194	Process	Negative regulation of adenylate cyclase activity	TAS	10328880
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	987231, 9872316
GO:0007268	Process	Chemical synaptic transmission	TAS	9872316
GO:0016020	Component	Membrane	IEA
GO:0016917	Function	GABA receptor activity	IEA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IBA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IEA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IPI	9872316
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	15304491
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	987231
GO:0150099	Process	Neuron-glial cell signaling	ISS
GO:1902710	Component	GABA receptor complex	IDA	15304491
GO:1902712	Component	G protein-coupled GABA receptor complex	IPI	24305054

MIM	HGNC	e!Ensembl
607340	4507	ENSG00000136928

O75899

Protein name

Gamma-aminobutyric acid type B receptor subunit 2 (GABA-B receptor 2) (GABA-B-R2) (GABA-BR2) (GABABR2) (Gb2) (G-protein coupled receptor 51) (HG20)

Protein function

Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054, PubMed:9872316, PubMed:9872744). Within the heterodimeric GABA receptor, only GABB

PDB

4F11 , 4F12 , 4MQE , 4MQF , 4MR7 , 4MR8 , 4MR9 , 4MRM , 4MS1 , 4MS3 , 4MS4 , 4PAS , 6M8R , 6OCP , 6UO8 , 6UO9 , 6UOA , 6VJM , 6W2X , 6WIV , 7C7Q , 7C7S , 7CA3 , 7CA5 , 7CUM , 7EB2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	76 → 435	Receptor family ligand binding region	Family
PF00003	7tm_3	493 → 746	7 transmembrane sweet-taste receptor of 3 GCPR	Family
PF18455	GBR2_CC	779 → 817	Gamma-aminobutyric acid type B receptor subunit 2 coiled-coil domain	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, especially in cerebral cortex, thalamus, hippocampus, frontal, occipital and temporal lobe, occipital pole and cerebellum, followed by corpus callosum, caudate nucleus, spinal cord, amygdala and medulla (PubM

Sequence

MASPRSSGQPGPPPPPPPPPARLLLLLLLPLLLPLAPGAWGWARGAPRPPPSSPPLSIMG
LMPLTKEVAKGSIGRGVLPAVELAIEQIRNESLLRPYFLDLRLYDTECDNAKGLKAFYDA
IKYGPNHLMVFGGVCPSVTSIIAESLQGWNLVQLSFAATTPVLADKKKYPYFFRTVPSDN
AVNPAILKLLKHYQWKRVGTLTQDVQRFSEVRNDLTGVLYGEDIEISDTESFSNDPCTSV
KKLKGNDVRIILGQFDQNMAAKVFCCAYEENMYGSKYQWIIPGWYEPSWWEQVHTEANSS
RCLRKNLLAAMEGYIGVDFEPLSSKQIKTISGKTPQQYEREYNNKRSGVGPSKFHGYAYD
GIWVIAKTLQRAMETLHASSRHQRIQDFNYTDHTLGRIILNAMNETNFFGVTGQVVFRNG
ERMGTIKFTQFQDSREVKVGEYNAVADTLEIINDTIRFQGSEPPKDKTIILEQLRKISLP
LYSILSALTILGMIMASAFLFFNIKNRNQKLIKMSSPYMNNLIILGGMLSYASIFLFGLD
GSFVSEKTFETLCTVRTWILTVGYTTAFGAMFAKTWRVHAIFKNVKMKKKIIKDQKLLVI
VGGMLLIDLCILICWQAVDPLRRTVEKYSMEPDPAGRDISIRPLLEHCENTHMTIWLGIV
YAYKGLLMLFGCFLAWETRNVSIPALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQ
FCIVALVIIFCSTITLCLVFVPKLITLRTNPDAATQNRRFQFTQNQKKEDSKTSTSVTSV
NQASTSRLEGLQSENHRLRMKITELDKDLEEVTMQLQDTPEKTTYIKQNHYQELNDILNL
GNFTESTDGGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQRRLSLQLPILH
HAYLPSIGGVDASCVSPCVSPTASPRHRHVPPSFRVMVSGL

Sequence length

941

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse Taste transduction Estrogen signaling pathway GnRH secretion Morphine addiction		Activation of G protein gated Potassium channels G alpha (i) signalling events Class C/3 (Metabotropic glutamate/pheromone receptors) GABA B receptor activation Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

881

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 59	Likely pathogenic; Pathogenic	rs1554689319, rs2491207996, rs1564157745, rs1554689320, rs1554689315, rs1554689313	RCV002254373 RCV003128222 RCV003153163 RCV000590835 RCV000590833 RCV000590834 RCV001729645
Epileptic encephalopathy	Pathogenic; Likely pathogenic	rs2131462561, rs1485329117, rs1554689320, rs1178244073	RCV001386468 RCV002300005 RCV003591755 RCV001061509
Intellectual disability	Likely pathogenic	rs1830549152	RCV001260768
Neurodevelopmental disorder with poor language and loss of hand skills	Likely pathogenic; Pathogenic	rs1554689319, rs1449813941, rs1554689313, rs1827283362	RCV002254373 RCV002289255 RCV000590832 RCV003389254

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1435252, rs3780422, rs2779562, rs3750344, rs2491397, rs2184026	-
Acute myeloid leukemia	Benign	rs754203594	RCV005901731
Autism spectrum disorder	Uncertain significance	rs2491174691	RCV003127324
GABBR2-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs568256004, rs539015155, rs756618371, rs560132993, rs532040816, rs138346207, rs370717972, rs1826721917, rs1287904056, rs2491384090, rs761164200, rs922847767, rs201116009, rs144313756, rs780232385 View all (5 more)	RCV003946056 RCV003908664 RCV003946188 RCV003948432 RCV003956242 RCV003968423 RCV003956318 RCV003401953 RCV004753581 RCV004731508 RCV004753733 RCV003392345 RCV004752937 RCV003925630 RCV003905717 RCV003937917 RCV003980233 RCV003945723 RCV003970812 RCV003970457
Rett syndrome	Conflicting classifications of pathogenicity	rs922847767	RCV000515463
Tobacco addiction, susceptibility to	Uncertain significance; Conflicting classifications of pathogenicity	rs765018232, rs1588292057, rs74429712	RCV002476454 RCV002497995 RCV002491780

Show/Hide Text Mining Associations (46)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Stimulate	19381877
Agnosia	Associate	38482990
Alzheimer Disease	Associate	33218044, 36776048
Anxiety	Associate	35301427
Arrhythmogenic Right Ventricular Dysplasia	Associate	30664203
Autism Spectrum Disorder	Associate	32807774, 34069769
Autistic Disorder	Associate	19002745
Bipolar Disorder	Inhibit	21303731, 24022508
Bipolar Disorder	Associate	38482990
Brain Diseases	Associate	36103875
Breast Neoplasms	Associate	35045088
Carcinogenesis	Stimulate	19381877
Carcinoma Non Small Cell Lung	Associate	23617850
Cholangiocarcinoma	Associate	37576707
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	35045088
Cognition Disorders	Associate	19002745
Cytomegalovirus Infections	Associate	23841715, 31438890
Cytomegalovirus Retinitis	Associate	12843015
Depressive Disorder Major	Inhibit	21303731, 24022508
Developmental Disabilities	Associate	26740508, 36103875
Epilepsy Absence	Associate	36103875
Epilepsy Idiopathic Generalized	Associate	36374051
Epileptic Encephalopathy Early Infantile 3	Associate	31957018
Essential Hypertension	Associate	25448630
Fabry Disease	Associate	33360824
Genital Diseases Female	Associate	31488892
Hemoglobinopathies	Associate	25420197
Hyperglycemia	Associate	37576707
Infections	Associate	30810104
Intellectual Disability	Associate	38482990
Jaundice	Associate	30810104
Neoplasms Connective Tissue	Associate	31176952
Neuroblastoma	Associate	17559250
Neurocognitive Disorders	Associate	38482990
Opiate Overdose	Associate	35301427
Opioid Related Disorders	Associate	35301427
Ovarian Neoplasms	Associate	31488892
Prostatic Neoplasms	Associate	23773523, 38482990
Rett Syndrome	Associate	26740508, 36103875
Schizophrenia	Inhibit	21303731, 24022508
Schizophrenia	Associate	31176952
Sepsis	Associate	29379005
Thyroid Neoplasms	Stimulate	19381877
Torticollis	Associate	34320236
Urinary Bladder Neoplasms	Associate	37762034
Uterine Cervical Neoplasms	Associate	31488892

GABBR2 (gamma-aminobutyric acid type B receptor subunit 2)