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)

(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

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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

**Key Characteristics** GABRB3 is a beta subunit of the GABA-A receptor, which is composed of multiple subunits, including alpha, beta, gamma, and delta. The beta subunit is characterized by its ability to form heterodimers with alpha subunits to create functional GABA-A receptors. GABRB3 is also notable for its high degree of sequence homology with other beta subunits, such as GABRB2. The gene encoding GABRB3 is located on chromosome 15q24.1 and consists of 11 exons that encode a 416-amino acid protein. **Pathways and Functions** GABRB3 plays a critical role in regulating neuronal excitability and synaptic transmission through its involvement in the GABA-A receptor complex. The GABA-A receptor complex is a ligand-gated chloride channel that is activated by the neurotransmitter GABA, leading to the influx of chloride ions into the neuron. This influx of chloride ions hyperpolarizes the neuron, reducing its excitability and promoting inhibitory neurotransmission. GABRB3 contributes to the assembly and function of GABA-A receptors by forming heterodimers with alpha subunits and interacting with other components of the receptor complex. In addition to its role in regulating neuronal excitability, GABRB3 is also involved in various signaling pathways, including the gamma-aminobutyric acid signaling pathway, which is a key regulator of neuronal excitability and synaptic transmission. The GABA signaling pathway is also involved in the regulation of other cellular processes, including cell proliferation, differentiation, and survival. **Clinical Significance** Dysregulation of the GABA-A receptor complex, including the GABRB3 subunit, has been implicated in various neurological disorders, including epilepsy, anxiety disorders, and schizophrenia. Mutations in the GABRB3 gene have been associated with an increased risk of developing these disorders, highlighting the critical role of GABRB3 in maintaining neuronal homeostasis and regulating neural circuits. Furthermore, GABRB3 has been identified as a potential therapeutic target for the treatment of various neurological disorders. For example, GABA agonists, which activate the GABA-A receptor complex, have been shown to have anxiolytic and anticonvulsant effects in animal models. Additionally, GABRB3 has been implicated in the regulation of synaptic plasticity, which is a critical process involved in learning and memory. In conclusion, GABRB3 is a critical component of the GABA-A receptor complex, which plays a pivotal role in regulating neuronal excitability and synaptic transmission. Its dysregulation has been implicated in various neurological disorders, and it has been identified as a potential therapeutic target for the treatment of these disorders. Further research is needed to fully elucidate the role of GABRB3 in maintaining neuronal homeostasis and regulating neural circuits.

Genular Protein ID: 2657583006

Symbol: GBRB3_HUMAN

Name: N/A

UniProtKB Accession Codes:

P28472 B7Z2W1 B7Z825 F5H3D2 H7BYV8 Q14352 Q96FM5

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 2 CTD 1 ChEBI 11 ChEMBL 1 ChiTaRS 1 ComplexPortal 15 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 80 DrugCentral 1 EMBL 15 EMDB 24 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 25 PDBsum 25 PIR 2 PRINTS 3 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 2 RefSeq 5 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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: 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

DOI: 10.1073/pnas.0307231101

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: 30140029

Title: Cryo-EM structure of the human alpha5beta3 GABAA receptor.

PubMed ID: 30140029

DOI: 10.1038/s41422-018-0077-8

PubMed ID: 30602789

Title: Cryo-EM structure of the human alpha1beta3gamma2 GABAA receptor in a lipid bilayer.

PubMed ID: 30602789

DOI: 10.1038/s41586-018-0833-4

PubMed ID: 35355020

Title: Differential assembly diversifies GABAA receptor structures and signalling.

PubMed ID: 35355020

DOI: 10.1038/s41586-022-04517-3

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: 2834994185

Symbol: B2RCW8_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2RCW8

Database IDs:

ARBA 14 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EMBL 2 GO 13 Gene3D 2 InterPro 9 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 3 PROSITE 1 PeptideAtlas 1 Pfam 4 RefSeq 1 Rhea 1 RuleBase 1 SUPFAM 2

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:

X5DQY4

Database IDs:

ARBA 14 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 13 Gene3D 2 HOGENOM 1 InterPro 9 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 3 PROSITE 1 Pfam 4 RefSeq 1 Rhea 1 RuleBase 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

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.