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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2562
Gene name Gene Name - the full gene name approved by the HGNC.	Gamma-aminobutyric acid type A receptor subunit beta3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GABRB3
Synonyms (NCBI Gene) Gene synonyms aliases	DEE43, ECA5, EIEE43
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs369631109	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045045	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886037938	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886037939	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs886037940	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886037941	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518036	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057519201	T>C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519549	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057519550	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1085308023	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691481	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555368626	A>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555368636	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555401425	G>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555401440	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555401942	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1567106381	T>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1595440448	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1595440453	A>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

Show/Hide all(123)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029728	hsa-miR-26b-5p	Microarray	19088304
MIRT045964	hsa-miR-125b-5p	CLASH	23622248
MIRT530347	hsa-miR-424-3p	PAR-CLIP	22012620
MIRT530346	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT530345	hsa-miR-4691-3p	PAR-CLIP	22012620
MIRT530344	hsa-miR-6784-3p	PAR-CLIP	22012620
MIRT530343	hsa-miR-6862-3p	PAR-CLIP	22012620
MIRT530342	hsa-miR-298	PAR-CLIP	22012620
MIRT530341	hsa-miR-4284	PAR-CLIP	22012620
MIRT530340	hsa-miR-24-3p	PAR-CLIP	22012620
MIRT530339	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT530338	hsa-miR-1273h-3p	PAR-CLIP	22012620
MIRT530337	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT450155	hsa-miR-548ac	PAR-CLIP	22100165
MIRT450154	hsa-miR-548bb-3p	PAR-CLIP	22100165
MIRT450153	hsa-miR-548d-3p	PAR-CLIP	22100165
MIRT450152	hsa-miR-548h-3p	PAR-CLIP	22100165
MIRT450151	hsa-miR-548z	PAR-CLIP	22100165
MIRT450150	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT450149	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT450148	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT450147	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT450146	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT450145	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT450144	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT450142	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450143	hsa-miR-552-3p	PAR-CLIP	22100165
MIRT450141	hsa-miR-3163	PAR-CLIP	22100165
MIRT450140	hsa-miR-3177-5p	PAR-CLIP	22100165
MIRT450139	hsa-let-7a-2-3p	PAR-CLIP	22100165
MIRT450138	hsa-let-7g-3p	PAR-CLIP	22100165
MIRT530347	hsa-miR-424-3p	PAR-CLIP	22012620
MIRT530346	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT530345	hsa-miR-4691-3p	PAR-CLIP	22012620
MIRT530344	hsa-miR-6784-3p	PAR-CLIP	22012620
MIRT530343	hsa-miR-6862-3p	PAR-CLIP	22012620
MIRT530342	hsa-miR-298	PAR-CLIP	22012620
MIRT530341	hsa-miR-4284	PAR-CLIP	22012620
MIRT530340	hsa-miR-24-3p	PAR-CLIP	22012620
MIRT530339	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT530338	hsa-miR-1273h-3p	PAR-CLIP	22012620
MIRT530337	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT450155	hsa-miR-548ac	PAR-CLIP	22100165
MIRT450154	hsa-miR-548bb-3p	PAR-CLIP	22100165
MIRT450153	hsa-miR-548d-3p	PAR-CLIP	22100165
MIRT450152	hsa-miR-548h-3p	PAR-CLIP	22100165
MIRT450151	hsa-miR-548z	PAR-CLIP	22100165
MIRT450150	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT450149	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT450148	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT450147	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT450146	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT450145	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT450144	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT450142	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450143	hsa-miR-552-3p	PAR-CLIP	22100165
MIRT450141	hsa-miR-3163	PAR-CLIP	22100165
MIRT450140	hsa-miR-3177-5p	PAR-CLIP	22100165
MIRT450139	hsa-let-7a-2-3p	PAR-CLIP	22100165
MIRT450138	hsa-let-7g-3p	PAR-CLIP	22100165
MIRT1009970	hsa-miR-149	CLIP-seq
MIRT1009971	hsa-miR-24	CLIP-seq
MIRT1009972	hsa-miR-3671	CLIP-seq
MIRT1009973	hsa-miR-4318	CLIP-seq
MIRT1009974	hsa-miR-4693-5p	CLIP-seq
MIRT1009975	hsa-miR-606	CLIP-seq
MIRT1009976	hsa-miR-892a	CLIP-seq
MIRT1009977	hsa-miR-892b	CLIP-seq
MIRT1009978	hsa-miR-134	CLIP-seq
MIRT1009979	hsa-miR-3118	CLIP-seq
MIRT1009980	hsa-miR-3127-5p	CLIP-seq
MIRT1009981	hsa-miR-3136-5p	CLIP-seq
MIRT1009982	hsa-miR-3143	CLIP-seq
MIRT1009983	hsa-miR-335	CLIP-seq
MIRT1009984	hsa-miR-3662	CLIP-seq
MIRT1009985	hsa-miR-4270	CLIP-seq
MIRT1009986	hsa-miR-4328	CLIP-seq
MIRT1009987	hsa-miR-4439	CLIP-seq
MIRT1009988	hsa-miR-4441	CLIP-seq
MIRT1009989	hsa-miR-4513	CLIP-seq
MIRT1009990	hsa-miR-4652-3p	CLIP-seq
MIRT1009991	hsa-miR-4666-3p	CLIP-seq
MIRT1009992	hsa-miR-4724-5p	CLIP-seq
MIRT1009993	hsa-miR-4803	CLIP-seq
MIRT1009994	hsa-miR-513c	CLIP-seq
MIRT1009995	hsa-miR-514b-5p	CLIP-seq
MIRT1009996	hsa-miR-550b	CLIP-seq
MIRT1009997	hsa-miR-888	CLIP-seq
MIRT1009978	hsa-miR-134	CLIP-seq
MIRT1009971	hsa-miR-24	CLIP-seq
MIRT1009979	hsa-miR-3118	CLIP-seq
MIRT1009980	hsa-miR-3127-5p	CLIP-seq
MIRT1009981	hsa-miR-3136-5p	CLIP-seq
MIRT1009998	hsa-miR-342-3p	CLIP-seq
MIRT1009999	hsa-miR-3660	CLIP-seq
MIRT1009985	hsa-miR-4270	CLIP-seq
MIRT1009987	hsa-miR-4439	CLIP-seq
MIRT1009988	hsa-miR-4441	CLIP-seq
MIRT1009989	hsa-miR-4513	CLIP-seq
MIRT1010000	hsa-miR-4526	CLIP-seq
MIRT1009992	hsa-miR-4724-5p	CLIP-seq
MIRT1010001	hsa-miR-4797-3p	CLIP-seq
MIRT1010002	hsa-miR-494	CLIP-seq
MIRT1010003	hsa-miR-505	CLIP-seq
MIRT1010004	hsa-miR-548c-3p	CLIP-seq
MIRT1009978	hsa-miR-134	CLIP-seq
MIRT1009979	hsa-miR-3118	CLIP-seq
MIRT1009980	hsa-miR-3127-5p	CLIP-seq
MIRT1009981	hsa-miR-3136-5p	CLIP-seq
MIRT1009982	hsa-miR-3143	CLIP-seq
MIRT1009985	hsa-miR-4270	CLIP-seq
MIRT1009987	hsa-miR-4439	CLIP-seq
MIRT1009988	hsa-miR-4441	CLIP-seq
MIRT1009989	hsa-miR-4513	CLIP-seq
MIRT1009991	hsa-miR-4666-3p	CLIP-seq
MIRT1009992	hsa-miR-4724-5p	CLIP-seq
MIRT1009993	hsa-miR-4803	CLIP-seq
MIRT1999173	hsa-miR-4760-3p	CLIP-seq
MIRT2232863	hsa-miR-2278	CLIP-seq
MIRT2232864	hsa-miR-4752	CLIP-seq
MIRT2232865	hsa-miR-4753-3p	CLIP-seq
MIRT1009972	hsa-miR-3671	CLIP-seq
MIRT1009971	hsa-miR-24	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
REST	Unknown	22765836

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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	14993607, 30602789
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IMP	22303015
GO:0004890	Function	GABA-A receptor activity	ISS
GO:0004890	Function	GABA-A receptor activity	TAS	1664410
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	IDA	26950270
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	22303015
GO:0005886	Component	Plasma membrane	TAS	1664410
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	TAS	1664410
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	30602789, 35355020
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IMP	26950270
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	NAS	28528665, 34417930
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007612	Process	Learning	IEA
GO:0007613	Process	Memory	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0019098	Process	Reproductive behavior	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	9039914, 30602789
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IMP	22303015, 26950270
GO:0022851	Function	GABA-gated chloride ion channel activity	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0042747	Process	Circadian sleep/wake cycle, REM sleep	IEA
GO:0042802	Function	Identical protein binding	IPI	16537435, 24909990
GO:0043197	Component	Dendritic spine	IDA	25025157
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	35355020
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048666	Process	Neuron development	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	IDA	14993607
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	28528665, 30602789, 35355020
GO:0060021	Process	Roof of mouth development	IEA
GO:0060021	Process	Roof of mouth development	ISS
GO:0060022	Process	Hard palate development	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	IEA
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060384	Process	Innervation	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0071294	Process	Cellular response to zinc ion	IEA
GO:0071420	Process	Cellular response to histamine	IDA	18281286
GO:0072347	Process	Response to anesthetic	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	ISS
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	9039914, 30602789, 35355020
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IMP	22303015
GO:1902476	Process	Chloride transmembrane transport	ISS
GO:1902476	Process	Chloride transmembrane transport	NAS	28528665
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IDA	9039914, 26950270
GO:1902711	Component	GABA-A receptor complex	IEA
GO:1902711	Component	GABA-A receptor complex	IMP	22303015
GO:1902711	Component	GABA-A receptor complex	IPI	30602789, 35355020
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904862	Process	Inhibitory synapse assembly	IDA	25489750
GO:1904862	Process	Inhibitory synapse assembly	IEA

MIM	HGNC	e!Ensembl
137192	4083	ENSG00000166206

Protein

UniProt ID

P28472

Protein name

Gamma-aminobutyric acid receptor subunit beta-3 (GABA(A) receptor subunit beta-3) (GABAAR subunit beta-3)

Protein function

Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:18514161, PubMed:22243422, PubMed:22303015, PubMed:24909990, Pu

PDB

4COF , 5O8F , 5OJM , 6A96 , 6HUG , 6HUJ , 6HUK , 6HUO , 6HUP , 6I53 , 6QFA , 7PBD , 7PBZ , 7PC0 , 7QN5 , 7QN6 , 7QN7 , 7QN8 , 7QN9 , 7QNA , 7QNB , 7QNC , 7QND , 7QNE , 8PVB , 9CSB , 9CTJ , 9CX7 , 9CXA , 9CXC , 9EQG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	37 → 243	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	250 → 468	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPP
VCVGMNIDIASIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPD
TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLK
RNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKI
PYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNR
VDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRS
LPHKKTHLRRRSSQLKIKIPDLTDVNAIDRWSRIVFPFTFSLFNLVYWLYYVN

Sequence length

473

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse GABAergic synapse Morphine addiction Nicotine addiction		GABA receptor activation

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 43	rs886037940, rs886037941, rs942355738, rs886037938, rs1889966424, rs1890229646, rs886037939	N/A
Epilepsy	Epilepsy, childhood absence, susceptibility to, 5, epilepsy	rs1555401942, rs797045045, rs886037938	N/A
Mental retardation	intellectual disability	rs797045045	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs1057519549, rs1057519550, rs1595440453	N/A

Show/Hide Unknown Diseases (4)

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.
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Developmental Delay	global developmental delay	N/A	N/A	ClinVar
Lennox-Gastaut Syndrome	Lennox-Gastaut syndrome	N/A	N/A	GenCC
seizure	Seizure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (46)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Albuminuria	Associate	21439949
Alzheimer Disease	Associate	39596356, 40430038
Angelman Syndrome	Associate	30826071, 7618904, 8389098
Attention Deficit Disorder with Hyperactivity	Associate	28607477
Autism Spectrum Disorder	Associate	19430570, 21786105, 28607477
Autistic Disorder	Associate	12068363, 12567325, 18821008, 19935738, 21786105, 24204716, 25124326, 30108208, 9545402
Autistic Disorder	Inhibit	21901840
Bipolar Disorder	Associate	19078961
Brain Diseases	Associate	23934111, 26645412, 29162865, 29390378, 34906499
Cerebral Infarction	Associate	28487959
Compassion Fatigue	Stimulate	17225872
Developmental Disabilities	Associate	26993267, 29162865, 29961870, 34906499
Epilepsy	Associate	19935738, 20550555, 22765836, 26645412, 27622563, 29961870, 30185235, 31755996, 34906499, 40542409
Epilepsy Absence	Associate	18514161, 19935738, 20550555, 22303015, 22765836, 25025424, 40542409
Epilepsy Generalized	Associate	34906499
Epilepsy Idiopathic Generalized	Associate	20550555
Epileptic Encephalopathy Early Infantile 3	Associate	29162865, 29390378, 34717289, 35383156, 40542409
Epileptic Syndromes	Associate	34906499
Fibromyalgia	Associate	21905019
Genetic Diseases Inborn	Associate	1362220
Growth Disorders	Associate	28607477
Hallucinations	Associate	19268543
Head and Neck Neoplasms	Associate	24786473
Heroin Dependence	Associate	25025424
Insulin Resistance	Associate	10729112
Intellectual Disability	Associate	34906499, 35383156, 40542409
Isodicentric Chromosome 15 Syndrome	Stimulate	23663378
Lennox Gastaut Syndrome	Associate	26645412, 31755996
Mental Disorders	Associate	25025424
Migraine with Aura	Associate	15586324
Muscle Hypotonia	Associate	35383156
Neoplasm Metastasis	Associate	36749655
Neoplasms	Associate	38287309
Nervous System Diseases	Associate	25124326
Neuroblastoma	Associate	18980998
Panic Disorder	Associate	24755890
Prader Willi Syndrome	Associate	16819717, 1714232, 7618904, 8499903
Prader Willi Syndrome	Inhibit	27894106
Prostatic Neoplasms	Associate	36749655
Prostatic Neoplasms	Stimulate	38287309
Prostatitis	Associate	38287309
Psychotic Disorders	Associate	19268543
Seizures	Associate	29390378, 31618474, 35383156, 9637609
Spasms Infantile	Associate	26645412
Substance Related Disorders	Associate	25025424
Triple Negative Breast Neoplasms	Associate	19268543

GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3)