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Protein

Neuronal acetylcholine receptor subunit beta-2

Gene

CHRNB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei84Key residue that may interfere with effective access of the conotoxin BuIA to the channel binding siteBy similarity1
Sitei136Key residue for a rapid dissociation (K(off)) from the conotoxin BuIABy similarity1
Sitei144Key residue for a rapid dissociation (K(off)) from the conotoxin BuIABy similarity1

GO - Molecular functioni

  • acetylcholine binding Source: UniProtKB
  • acetylcholine-gated cation-selective channel activity Source: UniProtKB
  • acetylcholine receptor activity Source: UniProtKB
  • ligand-gated ion channel activity Source: DFLAT
  • protein heterodimerization activity Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionIon channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors
R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors

Protein family/group databases

TCDBi1.A.9.1.6 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

Names & Taxonomyi

Protein namesi
Recommended name:
Neuronal acetylcholine receptor subunit beta-2
Gene namesi
Name:CHRNB2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000160716.4
HGNCiHGNC:1962 CHRNB2
MIMi118507 gene
neXtProtiNX_P17787

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini26 – 233ExtracellularSequence analysisAdd BLAST208
Transmembranei234 – 258HelicalSequence analysisAdd BLAST25
Topological domaini259 – 265CytoplasmicSequence analysis7
Transmembranei266 – 284HelicalSequence analysisAdd BLAST19
Topological domaini285 – 299ExtracellularSequence analysisAdd BLAST15
Transmembranei300 – 321HelicalSequence analysisAdd BLAST22
Topological domaini322 – 458CytoplasmicSequence analysisAdd BLAST137
Transmembranei459 – 478HelicalSequence analysisAdd BLAST20

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Epilepsy, nocturnal frontal lobe, 3 (ENFL3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.
See also OMIM:605375
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012714287V → L in ENFL3. 1 PublicationCorresponds to variant dbSNP:rs74315291EnsemblClinVar.1
Natural variantiVAR_012715287V → M in ENFL3; approximately 10-fold increase in acetylcholine sensitivity. 1 PublicationCorresponds to variant dbSNP:rs74315291EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi197F → Y: Increases ligand activation in LS and HS nAChR subtypes. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi1141
GeneReviewsiCHRNB2
MalaCardsiCHRNB2
MIMi605375 phenotype
OpenTargetsiENSG00000160716
Orphaneti98784 Autosomal dominant nocturnal frontal lobe epilepsy
PharmGKBiPA115

Chemistry databases

ChEMBLiCHEMBL1883
DrugBankiDB05458 ABT-089
DB00514 Dextromethorphan
DB00898 Ethanol
DB00674 Galantamine
DB00184 Nicotine
DB05855 Rivanicline
DB05740 RPI-78M

Polymorphism and mutation databases

BioMutaiCHRNB2
DMDMi113105

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25By similarityAdd BLAST25
ChainiPRO_000000037926 – 502Neuronal acetylcholine receptor subunit beta-2Add BLAST477

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi51N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi155 ↔ 169By similarity
Glycosylationi168N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi485N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP17787
PeptideAtlasiP17787
PRIDEiP17787
ProteomicsDBi53515

PTM databases

PhosphoSitePlusiP17787

Expressioni

Gene expression databases

BgeeiENSG00000160716 Expressed in 191 organ(s), highest expression level in epithelium of bronchus
CleanExiHS_CHRNB2
ExpressionAtlasiP17787 baseline and differential
GenevisibleiP17787 HS

Interactioni

Subunit structurei

Neuronal AChR is composed of two different types of subunits: alpha and beta. Beta-2 subunit can be combined to alpha-2, alpha-3 or alpha-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers. Alpha-2/4:beta-2 nAChR complexes are proposed to exist in two subtypes: LS (low agonist sensitivity) with a (alpha-2/4)3:(beta-2)2 and HS (high agonist sensitivity) with a (alpha-2/4)2:(beta-2)3 stoichiometry; the subtypes differ in their subunit binding interfaces which are involved in ligand binding (PubMed:27493220, PubMed:22361591). Interacts with RIC3; which is required for proper folding and assembly (PubMed:16120769). Interacts with LYPD6 (PubMed:27344019). The heteropentamer alpha-3-beta-2 interacts with alpha-conotoxins BuIA, MII, PnIA and GID (By similarity). The heteropentamer alpha-3-beta-2 interacts with the alpha-conotoxins ImI and ImII (PubMed:15609996). The heteropentamer alpha-4-beta-2 interacts with the alpha-conotoxins PnIA, GID and MII (By similarity).By similarity1 Publication4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

ComplexPortaliCPX-168 Neuronal nicotinic acetylcholine receptor complex, 3xalpha4-2xbeta2
CPX-187 Neuronal nicotinic acetylcholine receptor complex, alpha3-alpha5-beta2
CPX-2170 Neuronal nicotinic acetylcholine receptor complex, alpha2-beta2
CPX-218 Neuronal nicotinic acetylcholine receptor complex, alpha4-alpha5-beta2
CPX-2180 Neuronal nicotinic acetylcholine receptor complex, 2xalpha4-3xbeta2
CPX-2192 Neuronal nicotinic acetylcholine receptor complex, alpha3-alpha6-beta2-beta3
CPX-2193 Neuronal nicotinic acetylcholine receptor complex, alpha3-beta2
CPX-240 Neuronal nicotinic acetylcholine receptor complex, alpha7-beta2
CORUMiP17787
IntActiP17787, 4 interactors
STRINGi9606.ENSP00000357461

Chemistry databases

BindingDBiP17787

Structurei

Secondary structure

1502
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP17787
SMRiP17787
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP17787

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00760000118930
HOGENOMiHOG000006757
HOVERGENiHBG003756
InParanoidiP17787
KOiK04813
OrthoDBiEOG091G0R20
PhylomeDBiP17787
TreeFamiTF315605

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR032932 CHRNB2
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS
IPR002394 Nicotinic_acetylcholine_rcpt
PANTHERiPTHR18945 PTHR18945, 1 hit
PTHR18945:SF80 PTHR18945:SF80, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR00254 NICOTINICR
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

P17787-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARRCGPVAL LLGFGLLRLC SGVWGTDTEE RLVEHLLDPS RYNKLIRPAT
60 70 80 90 100
NGSELVTVQL MVSLAQLISV HEREQIMTTN VWLTQEWEDY RLTWKPEEFD
110 120 130 140 150
NMKKVRLPSK HIWLPDVVLY NNADGMYEVS FYSNAVVSYD GSIFWLPPAI
160 170 180 190 200
YKSACKIEVK HFPFDQQNCT MKFRSWTYDR TEIDLVLKSE VASLDDFTPS
210 220 230 240 250
GEWDIVALPG RRNENPDDST YVDITYDFII RRKPLFYTIN LIIPCVLITS
260 270 280 290 300
LAILVFYLPS DCGEKMTLCI SVLLALTVFL LLISKIVPPT SLDVPLVGKY
310 320 330 340 350
LMFTMVLVTF SIVTSVCVLN VHHRSPTTHT MAPWVKVVFL EKLPALLFMQ
360 370 380 390 400
QPRHHCARQR LRLRRRQRER EGAGALFFRE APGADSCTCF VNRASVQGLA
410 420 430 440 450
GAFGAEPAPV AGPGRSGEPC GCGLREAVDG VRFIADHMRS EDDDQSVSED
460 470 480 490 500
WKYVAMVIDR LFLWIFVFVC VFGTIGMFLQ PLFQNYTTTT FLHSDHSAPS

SK
Length:502
Mass (Da):57,019
Last modified:August 1, 1990 - v1
Checksum:i7EEDEF6ADFDC9F23
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTH5A0A1B0GTH5_HUMAN
Neuronal acetylcholine receptor sub...
CHRNB2
518Annotation score:
A0A1B0GVD7A0A1B0GVD7_HUMAN
Neuronal acetylcholine receptor sub...
CHRNB2
504Annotation score:
A0A1B0GUQ6A0A1B0GUQ6_HUMAN
Neuronal acetylcholine receptor sub...
CHRNB2
34Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti26T → A in CAA05108 (PubMed:9921897).Curated1
Sequence conflicti426E → A in CAA05108 (PubMed:9921897).Curated1
Sequence conflicti446S → SVR in CAA05108 (PubMed:9921897).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012714287V → L in ENFL3. 1 PublicationCorresponds to variant dbSNP:rs74315291EnsemblClinVar.1
Natural variantiVAR_012715287V → M in ENFL3; approximately 10-fold increase in acetylcholine sensitivity. 1 PublicationCorresponds to variant dbSNP:rs74315291EnsemblClinVar.1
Natural variantiVAR_021564397Q → H1 PublicationCorresponds to variant dbSNP:rs55685423EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X53179 mRNA Translation: CAA37320.1
U62437 mRNA Translation: AAB40115.1
Y08415 mRNA Translation: CAA69692.1
AJ001935
, AJ001936, AJ001937, AJ001938, AJ001939 Genomic DNA Translation: CAA05108.1
AF077186 Genomic DNA Translation: AAD45422.1
BC075040 mRNA Translation: AAH75040.1
BC075041 mRNA Translation: AAH75041.1
CCDSiCCDS1070.1
PIRiS10505
RefSeqiNP_000739.1, NM_000748.2
UniGeneiHs.2306

Genome annotation databases

EnsembliENST00000368476; ENSP00000357461; ENSG00000160716
GeneIDi1141
KEGGihsa:1141

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X53179 mRNA Translation: CAA37320.1
U62437 mRNA Translation: AAB40115.1
Y08415 mRNA Translation: CAA69692.1
AJ001935
, AJ001936, AJ001937, AJ001938, AJ001939 Genomic DNA Translation: CAA05108.1
AF077186 Genomic DNA Translation: AAD45422.1
BC075040 mRNA Translation: AAH75040.1
BC075041 mRNA Translation: AAH75041.1
CCDSiCCDS1070.1
PIRiS10505
RefSeqiNP_000739.1, NM_000748.2
UniGeneiHs.2306

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2GVTmodel-B/D/E30-233[»]
2K58NMR-B231-265[»]
2K59NMR-B264-291[»]
2KSRNMR-A231-330[»]
A453-486[»]
2LM2NMR-A231-330[»]
A458-485[»]
5KXIX-ray3.94B/C/E26-355[»]
B/C/E446-502[»]
6CNJelectron microscopy3.40B/C/E26-353[»]
B/C/E446-502[»]
6CNKelectron microscopy3.70C/E26-353[»]
C/E446-502[»]
ProteinModelPortaliP17787
SMRiP17787
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

ComplexPortaliCPX-168 Neuronal nicotinic acetylcholine receptor complex, 3xalpha4-2xbeta2
CPX-187 Neuronal nicotinic acetylcholine receptor complex, alpha3-alpha5-beta2
CPX-2170 Neuronal nicotinic acetylcholine receptor complex, alpha2-beta2
CPX-218 Neuronal nicotinic acetylcholine receptor complex, alpha4-alpha5-beta2
CPX-2180 Neuronal nicotinic acetylcholine receptor complex, 2xalpha4-3xbeta2
CPX-2192 Neuronal nicotinic acetylcholine receptor complex, alpha3-alpha6-beta2-beta3
CPX-2193 Neuronal nicotinic acetylcholine receptor complex, alpha3-beta2
CPX-240 Neuronal nicotinic acetylcholine receptor complex, alpha7-beta2
CORUMiP17787
IntActiP17787, 4 interactors
STRINGi9606.ENSP00000357461

Chemistry databases

BindingDBiP17787
ChEMBLiCHEMBL1883
DrugBankiDB05458 ABT-089
DB00514 Dextromethorphan
DB00898 Ethanol
DB00674 Galantamine
DB00184 Nicotine
DB05855 Rivanicline
DB05740 RPI-78M

Protein family/group databases

TCDBi1.A.9.1.6 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

PTM databases

PhosphoSitePlusiP17787

Polymorphism and mutation databases

BioMutaiCHRNB2
DMDMi113105

Proteomic databases

PaxDbiP17787
PeptideAtlasiP17787
PRIDEiP17787
ProteomicsDBi53515

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368476; ENSP00000357461; ENSG00000160716
GeneIDi1141
KEGGihsa:1141

Organism-specific databases

CTDi1141
DisGeNETi1141
EuPathDBiHostDB:ENSG00000160716.4
GeneCardsiCHRNB2
GeneReviewsiCHRNB2
HGNCiHGNC:1962 CHRNB2
MalaCardsiCHRNB2
MIMi118507 gene
605375 phenotype
neXtProtiNX_P17787
OpenTargetsiENSG00000160716
Orphaneti98784 Autosomal dominant nocturnal frontal lobe epilepsy
PharmGKBiPA115
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00760000118930
HOGENOMiHOG000006757
HOVERGENiHBG003756
InParanoidiP17787
KOiK04813
OrthoDBiEOG091G0R20
PhylomeDBiP17787
TreeFamiTF315605

Enzyme and pathway databases

ReactomeiR-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors
R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors

Miscellaneous databases

ChiTaRSiCHRNB2 human
EvolutionaryTraceiP17787
GeneWikiiCHRNB2
GenomeRNAii1141
PROiPR:P17787
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160716 Expressed in 191 organ(s), highest expression level in epithelium of bronchus
CleanExiHS_CHRNB2
ExpressionAtlasiP17787 baseline and differential
GenevisibleiP17787 HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR032932 CHRNB2
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS
IPR002394 Nicotinic_acetylcholine_rcpt
PANTHERiPTHR18945 PTHR18945, 1 hit
PTHR18945:SF80 PTHR18945:SF80, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR00254 NICOTINICR
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiACHB2_HUMAN
AccessioniPrimary (citable) accession number: P17787
Secondary accession number(s): Q9UEH9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: August 1, 1990
Last modified: November 7, 2018
This is version 194 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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