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GABRB3

GENERAL INFORMATION

Gene name

 GABRB3

Gene description

 Gamma-aminobutyric acid (GABA) A receptor, beta 3

Protein class

 Disease related genes
FDA approved drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 7
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (cerebral cortex)
GTEx:Group enriched (cerebral cortex, pituitary gland, caudate, hippocampus, cerebellum, hypothalamus)
FANTOM5:Tissue enhanced (caudate, pituitary gland)

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cerebral cortex, pituitary gland, caudate, hippocampus, cerebellum, hypothalamus)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (caudate, pituitary gland)

GENE INFORMATION

Gene name

 GABRB3

Synonyms

Description

 Gamma-aminobutyric acid (GABA) A receptor, beta 3 (HGNC Symbol)

Entrez gene summary

 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 nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

Chromosome

 15

Cytoband

 q12

Chromosome location (bp)

 26543546 - 26939539

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000166206 (version 83.38)

Entrez gene

 2562

UniProt

 P28472 (UniProt - Evidence at protein level)

neXtProt

 NX_P28472

Antibodypedia

 GABRB3 antibodies

PROTEIN BROWSER
GABRB3-001
GABRB3-002
GABRB3-003
GABRB3-006
GABRB3-011
GABRB3-201
GABRB3-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GABRB3-001
ENSP00000299267
ENST00000299267
P28472 [Direct mapping]
Gamma-aminobutyric acid receptor subunit beta-3
X5DQY4 [Target identity:100%; Query identity:100%]
Gamma-aminobutyric acid A receptor beta 3 isoform A
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0022851 [GABA-gated chloride ion channel activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:0055085 [transmembrane transport]
GO:0060021 [palate development]
GO:0071420 [cellular response to histamine]
GO:1902476 [chloride transmembrane transport]
GO:1902711 [GABA-A receptor complex]
Show all
 473 aa
54.4 kDa 		Yes 4
GABRB3-002
ENSP00000308725
ENST00000311550
P28472 [Direct mapping]
Gamma-aminobutyric acid receptor subunit beta-3
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0007605 [sensory perception of sound]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0022851 [GABA-gated chloride ion channel activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0043005 [neuron projection]
GO:0043523 [regulation of neuron apoptotic process]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0048666 [neuron development]
GO:0050877 [neurological system process]
GO:0055085 [transmembrane transport]
GO:0060021 [palate development]
GO:0060080 [inhibitory postsynaptic potential]
GO:0060119 [inner ear receptor cell development]
GO:0060384 [innervation]
GO:0071420 [cellular response to histamine]
GO:0090102 [cochlea development]
GO:1901215 [negative regulation of neuron death]
GO:1902476 [chloride transmembrane transport]
GO:1902711 [GABA-A receptor complex]
Show all
 473 aa
54.1 kDa 		Yes 4
GABRB3-003
ENSP00000442408
ENST00000541819
F5H7N0 [Direct mapping]
Gamma-aminobutyric acid receptor subunit beta-3
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005886 [plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007165 [signal transduction]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0045202 [synapse]
Show all
 529 aa
61 kDa 		No 4
GABRB3-006
ENSP00000383049
ENST00000400188
P28472 [Direct mapping]
Gamma-aminobutyric acid receptor subunit beta-3
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0022851 [GABA-gated chloride ion channel activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:0055085 [transmembrane transport]
GO:0060021 [palate development]
GO:0071420 [cellular response to histamine]
GO:1902476 [chloride transmembrane transport]
GO:1902711 [GABA-A receptor complex]
Show all
 402 aa
46.7 kDa 		No 4
GABRB3-011
ENSP00000439169
ENST00000545868
P28472 [Direct mapping]
Gamma-aminobutyric acid receptor subunit beta-3
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0022851 [GABA-gated chloride ion channel activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:0055085 [transmembrane transport]
GO:0060021 [palate development]
GO:0071420 [cellular response to histamine]
GO:1902476 [chloride transmembrane transport]
GO:1902711 [GABA-A receptor complex]
Show all
 388 aa
45 kDa 		No 4
GABRB3-201
ENSP00000481004
ENST00000622697
P28472 [Direct mapping]
Gamma-aminobutyric acid receptor subunit beta-3
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0022851 [GABA-gated chloride ion channel activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:0055085 [transmembrane transport]
GO:0060021 [palate development]
GO:0071420 [cellular response to histamine]
GO:1902476 [chloride transmembrane transport]
GO:1902711 [GABA-A receptor complex]
Show all
 388 aa
45 kDa 		No 4
GABRB3-202
ENSP00000486819
ENST00000628124
P28472 [Direct mapping]
Gamma-aminobutyric acid receptor subunit beta-3
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004890 [GABA-A receptor activity]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0022851 [GABA-gated chloride ion channel activity]
GO:0030054 [cell junction]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0043005 [neuron projection]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050877 [neurological system process]
GO:0055085 [transmembrane transport]
GO:0060021 [palate development]
GO:0071420 [cellular response to histamine]
GO:1902476 [chloride transmembrane transport]
GO:1902711 [GABA-A receptor complex]
Show all
 388 aa
45 kDa 		No 4

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.