GABRG3 - gamma-aminobutyric acid type A receptor subunit gamma3 Gene

Homo sapiens

Gene ID: 2567 | Gene type: protein coding

About GABRG3

Cytogenetic location: 15q12 Genomic coordinates (GRCh38): 15:26,971,181-27,541,984 (from NCBI)

This gene has 8 transcripts (splice variants), 250 orthologues and 45 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

GABRG3 Products(2)

mRNA	Protein	Name
NM_001270873.2	NP_001257802.1	gamma-aminobutyric acid receptor subunit gamma-3 isoform 2 precursor
NM_033223.5	NP_150092.2	gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor

GABRG3 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
467 a.a.

Protein Preferred Names

Protein Names

gamma-aminobutyric acid receptor subunit gamma-3

GABA(A) receptor subunit gamma-3

Related Diseases

Diseases

Alias

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Albinism, Oculocutaneous, Type Ii

OCA2	Oculocutaneous Albinism Type 2
Oculocutaneous Albinism Type Ii	Albinoidism
Tyrosinase-Positive Oculocutaneous Albinism	Brown Oculocutaneous Albinism
Oculocutaneous Albinism, Tyrosinase-Positive	Albinism Ii
Albinism, Brown Oculocutaneous	Oculocutaneous Albinism, Type Ii, Modifier Of
Oculocutaneous Albinism, Type Ii	Albinism, Oculocutaneous, Type Ii, Modifier Of
Albinism 2	Albinism, Oculocutaneous, Type 2
Oculocutaneous Albinism Tyrosinase Positive	Oculocutaneous Albinism, Tyrosinase Positive
Albinism, Oculocutaneous, 2	Boca
Oca-2	Oculocutaneous Albinism Tyrosinase-Positive

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Generalized Epilepsy With Febrile Seizures Plus

Gefs+	Genetic Epilepsy With Febrile Seizures Plus
Generalized Epilepsy With Febrile Seizures-Plus	Genetic Epilepsy With Febrile Seizures-Plus
Epilepsy, Generalized, With Febrile Seizures Plus

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Imprinting Mutation	Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Prader Willi Syndrome	Upd(15)Mat

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05222	GABRG3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GABRG3	VGNC	VGNC:80967
Rattus norvegicus	GABRG3	RGD	RGD:621735
Mus musculus	GABRG3	MGD	MGI:95624
Macaca mulatta	GABRG3	VGNC	VGNC:72858

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