Details for: GABRB3

Gene ID: 2562

Symbol: GABRB3

Ensembl ID: ENSG00000166206

Description: gamma-aminobutyric acid type A receptor subunit beta3

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 3.77
    Marker Score: 19801
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 3.35
    Marker Score: 18015
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 3.3
    Marker Score: 111505
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 3.04
    Marker Score: 10191
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.01
    Marker Score: 13936
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.97
    Marker Score: 8485
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 2.82
    Marker Score: 1460
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.78
    Marker Score: 21285
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.77
    Marker Score: 4659
  • Cell Name: granule cell (CL0000120)
    Fold Change: 2.77
    Marker Score: 20908
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.76
    Marker Score: 41245
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 2.68
    Marker Score: 850
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 2.62
    Marker Score: 866
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.61
    Marker Score: 99271
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.6
    Marker Score: 51685
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.59
    Marker Score: 1505
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 2.56
    Marker Score: 5886.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.46
    Marker Score: 10185
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.41
    Marker Score: 3390
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.33
    Marker Score: 9012
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.32
    Marker Score: 85551
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 2.28
    Marker Score: 1193.5
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 2.23
    Marker Score: 1249
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.18
    Marker Score: 20538
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.16
    Marker Score: 907
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.08
    Marker Score: 127644
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 2.03
    Marker Score: 1527
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.02
    Marker Score: 777
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2
    Marker Score: 20637
  • Cell Name: neuron (CL0000540)
    Fold Change: 2
    Marker Score: 8127
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.95
    Marker Score: 938
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.92
    Marker Score: 18253
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.88
    Marker Score: 16134
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.68
    Marker Score: 2089
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.65
    Marker Score: 2549
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 1.64
    Marker Score: 552
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.61
    Marker Score: 439
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.49
    Marker Score: 6223
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.48
    Marker Score: 2806
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168468
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 1.4
    Marker Score: 424
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.34
    Marker Score: 400
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.29
    Marker Score: 3048
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.29
    Marker Score: 2626
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.29
    Marker Score: 1595
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.25
    Marker Score: 1515
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.21
    Marker Score: 4300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.19
    Marker Score: 868
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.19
    Marker Score: 25462
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.17
    Marker Score: 1316
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.17
    Marker Score: 18249
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.15
    Marker Score: 1087.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4793
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.11
    Marker Score: 2258
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.1
    Marker Score: 444
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71786
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48011
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.98
    Marker Score: 9964
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.98
    Marker Score: 588
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.98
    Marker Score: 364
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.96
    Marker Score: 652
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.95
    Marker Score: 319
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.94
    Marker Score: 388
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 369
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5222
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.91
    Marker Score: 1042
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5282
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.84
    Marker Score: 1459
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.8
    Marker Score: 611
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.77
    Marker Score: 249
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1253
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 695
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 392
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.75
    Marker Score: 781
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.75
    Marker Score: 168
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.73
    Marker Score: 347
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.71
    Marker Score: 425
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.7
    Marker Score: 203
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.65
    Marker Score: 309
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.64
    Marker Score: 557
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.64
    Marker Score: 200
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.63
    Marker Score: 163
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.62
    Marker Score: 409
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.62
    Marker Score: 321
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.61
    Marker Score: 867
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.61
    Marker Score: 1650
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.59
    Marker Score: 168
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.58
    Marker Score: 345.5
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.58
    Marker Score: 256
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.58
    Marker Score: 368
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 441
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173.5
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.54
    Marker Score: 152

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Other Information

**Key characteristics:** - Type: Protein - Ensembl ID: ENSG00000166206 - Pathway/Ontology: Chemical synaptic transmission, Chloride channel activity, Gaba-a receptor activity, Gaba-gated chloride ion channel activity, Gaba receptor activation, Gamma-aminobutyric acid signaling pathway - Significantly expressed cells: neuron associated cell (sensu Vertebrata), stellate neuron, Purkinje cell, neuronal brush cell, inhibitory interneuron, cerebral cortex neuron, endocrine cell, sncg GABAergic cortical interneuron, pyramidal neuron, granule cell **Pathways and functions:** The GABRB3 gene product is a subunit of the GABA receptor complex. The GABA receptor complex is a heterotetrameric protein complex that is expressed in the brain and spinal cord. The complex is composed of two gamma-aminobutyric acid (GABA) receptors and two alpha-aminobutyric acid (AABA) receptors. The GABA receptor complex is responsible for the inhibition of neuronal activity by binding to GABA and facilitating its movement into the neuronal cell. **Clinical significance:** Mutations in the GABRB3 gene have been linked to a number of neurological and psychiatric disorders, including epilepsy, schizophrenia, and autism. These mutations can lead to the loss of GABAergic function, which can result in abnormal neural activity and seizures.

Genular Protein ID: 2657583006

Symbol: GBRB3_HUMAN

Name: Gamma-aminobutyric acid receptor subunit beta-3

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1664410

Title: The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7.

PubMed ID: 1664410

DOI: 10.1016/0888-7543(91)90034-c

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8382702

Title: A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3).

PubMed ID: 8382702

DOI: 10.1016/s0021-9258(18)53626-7

PubMed ID: 1714232

Title: Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.

PubMed ID: 1714232

PubMed ID: 18281286

Title: Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses.

PubMed ID: 18281286

DOI: 10.1074/jbc.m709993200

PubMed ID: 22243422

Title: Mapping general anesthetic binding site(s) in human alpha1beta3 gamma-aminobutyric acid type A receptors with [3H]TDBzl-etomidate, a photoreactive etomidate analogue.

PubMed ID: 22243422

DOI: 10.1021/bi201772m

PubMed ID: 25489750

Title: Inhibitory synapse formation in a co-culture model incorporating GABAergic medium spiny neurons and HEK293 cells stably expressing GABAA receptors.

PubMed ID: 25489750

DOI: 10.3791/52115

PubMed ID: 24909990

Title: Crystal structure of a human GABAA receptor.

PubMed ID: 24909990

DOI: 10.1038/nature13293

PubMed ID: 12189488

Title: Functional characterization of the new human GABA(A) receptor mutation beta3(R192H).

PubMed ID: 12189488

DOI: 10.1007/s00439-002-0766-7

PubMed ID: 18514161

Title: Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

PubMed ID: 18514161

DOI: 10.1016/j.ajhg.2008.04.020

PubMed ID: 22303015

Title: GABRB3 mutation, G32R, associated with childhood absence epilepsy alters alpha1beta3gamma2L gamma-aminobutyric acid type A (GABAA) receptor expression and channel gating.

PubMed ID: 22303015

DOI: 10.1074/jbc.m111.332528

PubMed ID: 23934111

Title: De novo mutations in epileptic encephalopathies.

PubMed ID: 23934111

DOI: 10.1038/nature12439

PubMed ID: 25356899

Title: De novo mutations in moderate or severe intellectual disability.

PubMed ID: 25356899

DOI: 10.1371/journal.pgen.1004772

PubMed ID: 27476654

Title: De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies.

PubMed ID: 27476654

DOI: 10.1016/j.ajhg.2016.06.003

PubMed ID: 26950270

Title: Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function.

PubMed ID: 26950270

DOI: 10.1002/ana.24631

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 28544625

Title: A mutation in GABRB3 associated with Dravet syndrome.

PubMed ID: 28544625

DOI: 10.1002/ajmg.a.38282

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

Sequence Information:

  • Length: 473
  • Mass: 54116
  • Checksum: D63597F7FBC69E71
  • Sequence:
  • MWGLAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP 
    VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD 
    TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE 
    SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK 
    RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI 
    PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSESNR 
    VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI QYRKQSMPRE GHGRFLGDRS 
    LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN

Genular Protein ID: 3259360422

Symbol: X5DQY4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

Sequence Information:

  • Length: 473
  • Mass: 54379
  • Checksum: 3A7F9A0EB3537D5E
  • Sequence:
  • MCSGLLELLL PIWLSWTLGT RGSEPRSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP 
    VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD 
    TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE 
    SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK 
    RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI 
    PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSESNR 
    VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI QYRKQSMPRE GHGRFLGDRS 
    LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN

Genular Protein ID: 2834994185

Symbol: B2RCW8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 473
  • Mass: 54345
  • Checksum: 5E33F6EE535D73BA
  • Sequence:
  • MCSGLLELLL PIWLSWTLGT RGSEPRSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP 
    VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD 
    TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE 
    SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK 
    RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI 
    PYVKAIDMYL MGCLVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSESNR 
    VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI QYRKQSMPRE GHGRFLGDRS 
    LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.