Details for: GABRB3
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 208.5408
Cell Significance Index: -52.9000 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 6.3864
Cell Significance Index: 79.2100 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 6.1948
Cell Significance Index: 416.5400 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 5.8367
Cell Significance Index: 166.5600 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 5.2561
Cell Significance Index: 232.4900 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 4.9710
Cell Significance Index: 188.2400 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 4.3535
Cell Significance Index: 1561.5100 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 4.3109
Cell Significance Index: 271.7000 - Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
Fold Change: 3.5421
Cell Significance Index: 47.2500 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 3.5073
Cell Significance Index: 703.5700 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 2.4166
Cell Significance Index: 1671.4300 - Cell Name: hippocampal interneuron (CL1001569)
Fold Change: 2.0180
Cell Significance Index: 26.1700 - Cell Name: pyramidal neuron (CL0000598)
Fold Change: 1.4629
Cell Significance Index: 11.2200 - Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: 1.4595
Cell Significance Index: 11.2500 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 1.3594
Cell Significance Index: 29.7700 - Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: 0.7903
Cell Significance Index: 9.5800 - Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.7500
Cell Significance Index: 8.9400 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 0.6998
Cell Significance Index: 36.7400 - Cell Name: midget ganglion cell of retina (CL4023188)
Fold Change: 0.5434
Cell Significance Index: 5.6600 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.5091
Cell Significance Index: 28.5700 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.5084
Cell Significance Index: 96.7500 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.4359
Cell Significance Index: 7.4700 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.3084
Cell Significance Index: 278.4600 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.1421
Cell Significance Index: 14.0600 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.0676
Cell Significance Index: 3.5100 - Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 0.0652
Cell Significance Index: 0.6200 - Cell Name: glutamatergic neuron (CL0000679)
Fold Change: 0.0441
Cell Significance Index: 0.4800 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.0402
Cell Significance Index: 6.5400 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.0258
Cell Significance Index: 4.6500 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.0002
Cell Significance Index: 0.0000 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.0045
Cell Significance Index: -0.1300 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0100
Cell Significance Index: -6.2600 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0106
Cell Significance Index: -7.8600 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0134
Cell Significance Index: -25.3200 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0196
Cell Significance Index: -36.1100 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0213
Cell Significance Index: -0.7500 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0232
Cell Significance Index: -35.7500 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0282
Cell Significance Index: -38.4100 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.0290
Cell Significance Index: -1.7800 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0463
Cell Significance Index: -33.9600 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0544
Cell Significance Index: -11.4600 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0564
Cell Significance Index: -31.8300 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0575
Cell Significance Index: -36.5100 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0680
Cell Significance Index: -51.4400 - Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0771
Cell Significance Index: -42.1100 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0817
Cell Significance Index: -36.1000 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0828
Cell Significance Index: -14.1400 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0864
Cell Significance Index: -39.2300 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: -0.1381
Cell Significance Index: -15.0300 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.1468
Cell Significance Index: -6.6600 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1526
Cell Significance Index: -43.9100 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1542
Cell Significance Index: -17.6700 - Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: -0.1616
Cell Significance Index: -2.0200 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.1672
Cell Significance Index: -24.3100 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.1723
Cell Significance Index: -21.1800 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.1956
Cell Significance Index: -6.2300 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.2148
Cell Significance Index: -5.3700 - Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.2158
Cell Significance Index: -42.8300 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.2852
Cell Significance Index: -5.6400 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.2922
Cell Significance Index: -40.1300 - Cell Name: GABAergic neuron (CL0000617)
Fold Change: -0.2995
Cell Significance Index: -3.7800 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.3072
Cell Significance Index: -4.4000 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.3180
Cell Significance Index: -24.4100 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.3471
Cell Significance Index: -9.7000 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.3553
Cell Significance Index: -45.5500 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.3967
Cell Significance Index: -51.2500 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.3985
Cell Significance Index: -27.5600 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.4015
Cell Significance Index: -8.0600 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.4030
Cell Significance Index: -8.7300 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.4036
Cell Significance Index: -47.0300 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.4558
Cell Significance Index: -53.7500 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.4568
Cell Significance Index: -46.6600 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: -0.4606
Cell Significance Index: -27.6500 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.4607
Cell Significance Index: -52.5900 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.4763
Cell Significance Index: -10.1100 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.4768
Cell Significance Index: -49.6500 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.5007
Cell Significance Index: -21.7700 - Cell Name: ON midget ganglion cell (CL4033046)
Fold Change: -0.5087
Cell Significance Index: -6.4200 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.5466
Cell Significance Index: -38.6600 - Cell Name: neural cell (CL0002319)
Fold Change: -0.5494
Cell Significance Index: -6.4100 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.5767
Cell Significance Index: -12.4600 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.5895
Cell Significance Index: -46.6900 - Cell Name: flat midget bipolar cell (CL4033033)
Fold Change: -0.6122
Cell Significance Index: -7.6100 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.6273
Cell Significance Index: -20.0900 - Cell Name: neuron (CL0000540)
Fold Change: -0.6425
Cell Significance Index: -6.0900 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.6587
Cell Significance Index: -16.4300 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.6872
Cell Significance Index: -51.2200 - Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
Fold Change: -0.6934
Cell Significance Index: -7.6500 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.7039
Cell Significance Index: -18.0900 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.7194
Cell Significance Index: -44.2200 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.7470
Cell Significance Index: -26.1700 - Cell Name: melanocyte of skin (CL1000458)
Fold Change: -0.7670
Cell Significance Index: -10.7500 - Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: -0.7756
Cell Significance Index: -12.7800 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.8132
Cell Significance Index: -52.4700 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.8229
Cell Significance Index: -17.0700 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.9034
Cell Significance Index: -42.1200 - Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: -0.9346
Cell Significance Index: -6.0800 - Cell Name: invaginating midget bipolar cell (CL4033034)
Fold Change: -0.9495
Cell Significance Index: -11.7200 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: -1.0062
Cell Significance Index: -21.0000 - Cell Name: inhibitory interneuron (CL0000498)
Fold Change: -1.0402
Cell Significance Index: -12.4400
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 2657583006
Symbol: GBRB3_HUMAN
Name: N/A
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
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
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: 14993607
Title: Tonic inhibition in mouse hippocampal CA1 pyramidal neurons is mediated by alpha5 subunit-containing gamma-aminobutyric acid type A receptors.
PubMed ID: 14993607
PubMed ID: 18281286
Title: Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses.
PubMed ID: 18281286
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
PubMed ID: 30140029
Title: Cryo-EM structure of the human alpha5beta3 GABAA receptor.
PubMed ID: 30140029
PubMed ID: 30602789
Title: Cryo-EM structure of the human alpha1beta3gamma2 GABAA receptor in a lipid bilayer.
PubMed ID: 30602789
PubMed ID: 35355020
Title: Differential assembly diversifies GABAA receptor structures and signalling.
PubMed ID: 35355020
PubMed ID: 12189488
Title: Functional characterization of the new human GABA(A) receptor mutation beta3(R192H).
PubMed ID: 12189488
PubMed ID: 18514161
Title: Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
PubMed ID: 18514161
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
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
PubMed ID: 27476654
Title: De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies.
PubMed ID: 27476654
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
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: 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
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
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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.