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

Homo sapiens

Gene ID: 2564 | Gene type: protein coding

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05219	GABRE Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.