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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2567

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

Pre-clinical Phase

Bioactive Molecules (1)

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