GABRE - gamma-aminobutyric acid type A receptor subunit epsilon Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2564

About GABRE

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:151,953,124-151,974,676 (from NCBI)

This gene has 12 transcripts (splice variants), 108 orthologues and 45 paralogues. Broad expression in skin (RPKM 13.6), fat (RPKM 13.4) and 17 other tissues.

Summary

The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit Chloride Channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]

GABRE Products (1)

mRNA	Protein	Name
NM_004961.4	NP_004952.2	gamma-aminobutyric acid receptor subunit epsilon precursor

GABRE Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
506 a.a.

Protein Preferred Names	Protein Names
gamma-aminobutyric acid receptor subunit epsilon	GABA(A) receptor subunit epsilon

Related Diseases

Diseases	Alias
Epilepsy, Idiopathic Generalized 12	EIG12 Epilepsy, Idiopathic Generalized, Susceptibility To, 12 Idiopathic Generalized Epilepsy 12 Susceptibility To Idiopathic Generalized Epilepsy 12 Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 12
Dystonia 9	DYT9 Choreoathetosis/Spasticity, Episodic Episodic Choreoathetosis/Spasticity Cse Choreoathetosis, Paroxysmal, With Episodic Ataxia Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity Cse Dystonia-9 Kinesigenic Choreoathetosis With Episodic Ataxia And Spasticity Paroxysmal Choreoathetosis With Episodic Ataxia Dystonia, Type 9
Essential Tremor	Benign Essential Tremor Familial Tremor Hereditary Essential Tremor Essential Hereditary Tremor Shaky Hand Syndrome Benign Essential Tremor Syndrome Tremor Hereditary Essential Essential Tremor, Susceptibility To Tremor, Hereditary Essential
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

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-RS05219	GABRE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GABRE	VGNC	VGNC:72855
Mus musculus	GABRE	MGD	MGI:1330235
Rattus norvegicus	GABRE	RGD	RGD:68320
Canis familiaris	GABRE	VGNC	VGNC:41062
Felis catus	GABRE	VGNC	VGNC:62427
Bos taurus	GABRE	VGNC	VGNC:29199
Others	GABRE	NCBI