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Protein

Neuronal acetylcholine receptor subunit alpha-2

Gene

CHRNA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

GO - Molecular functioni

GO - Biological processi

  • ion transport Source: UniProtKB
  • neuromuscular synaptic transmission Source: GO_Central
  • protein heterooligomerization Source: Ensembl
  • response to nicotine Source: GO_Central
  • signal transduction Source: UniProtKB
  • synaptic transmission, cholinergic Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000120903-MONOMER.
ReactomeiR-HSA-629594. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
R-HSA-629597. Highly calcium permeable nicotinic acetylcholine receptors.

Names & Taxonomyi

Protein namesi
Recommended name:
Neuronal acetylcholine receptor subunit alpha-2
Gene namesi
Name:CHRNA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:1956. CHRNA2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 264ExtracellularAdd BLAST238
Transmembranei265 – 289HelicalSequence analysisAdd BLAST25
Transmembranei297 – 315HelicalSequence analysisAdd BLAST19
Transmembranei331 – 352HelicalSequence analysisAdd BLAST22
Topological domaini353 – 502CytoplasmicAdd BLAST150
Transmembranei503 – 521HelicalSequence analysisAdd BLAST19

GO - Cellular componenti

  • acetylcholine-gated channel complex Source: UniProtKB
  • cell junction Source: UniProtKB-KW
  • integral component of membrane Source: UniProtKB
  • plasma membrane Source: Reactome
  • postsynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Epilepsy, nocturnal frontal lobe, 4 (ENFL4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking.
See also OMIM:610353
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027641279I → N in ENFL4; markedly increases receptor sensitivity to acetylcholine. 1 PublicationCorresponds to variant rs104894063dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi1135.
MalaCardsiCHRNA2.
MIMi610353. phenotype.
OpenTargetsiENSG00000120903.
Orphaneti98784. Autosomal dominant nocturnal frontal lobe epilepsy.
PharmGKBiPA26489.

Chemistry databases

ChEMBLiCHEMBL2109236.
DrugBankiDB00732. Atracurium besylate.
DB00810. Biperiden.
DB00411. Carbachol.
DB00565. Cisatracurium besylate.
DB01245. Decamethonium.
DB00514. Dextromethorphan.
DB01135. Doxacurium chloride.
DB00898. Ethanol.
DB00674. Galantamine.
DB00483. Gallamine Triethiodide.
DB00657. Mecamylamine.
DB01336. Metocurine.
DB01226. Mivacurium.
DB00184. Nicotine.
DB01337. Pancuronium.
DB01338. Pipecuronium.
DB00721. Procaine.
DB00728. Rocuronium.
DB01199. Tubocurarine.
DB01339. Vecuronium.
GuidetoPHARMACOLOGYi463.

Polymorphism and mutation databases

BioMutaiCHRNA2.
DMDMi308153405.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000000034027 – 529Neuronal acetylcholine receptor subunit alpha-2Add BLAST503

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi79N-linked (GlcNAc...)Sequence analysis1
Glycosylationi129N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi183 ↔ 197By similarity
Glycosylationi235N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi247 ↔ 248Associated with receptor activationBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ15822.
PaxDbiQ15822.
PRIDEiQ15822.

PTM databases

iPTMnetiQ15822.
PhosphoSitePlusiQ15822.

Expressioni

Gene expression databases

BgeeiENSG00000120903.
CleanExiHS_CHRNA2.
ExpressionAtlasiQ15822. baseline and differential.
GenevisibleiQ15822. HS.

Interactioni

Subunit structurei

Neuronal AChR seems to be composed of two different types of subunits: alpha and non-alpha (beta). Alpha-2 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors.

Protein-protein interaction databases

STRINGi9606.ENSP00000385026.

Chemistry databases

BindingDBiQ15822.

Structurei

Secondary structure

1529
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi61 – 69Combined sources9
Beta strandi74 – 76Combined sources3
Beta strandi78 – 82Combined sources5
Beta strandi84 – 99Combined sources16
Turni100 – 103Combined sources4
Beta strandi104 – 116Combined sources13
Helixi118 – 120Combined sources3
Turni124 – 129Combined sources6
Beta strandi131 – 136Combined sources6
Turni137 – 139Combined sources3
Beta strandi145 – 147Combined sources3
Turni148 – 150Combined sources3
Beta strandi162 – 166Combined sources5
Turni167 – 169Combined sources3
Beta strandi170 – 173Combined sources4
Beta strandi176 – 182Combined sources7
Beta strandi190 – 192Combined sources3
Beta strandi198 – 205Combined sources8
Turni208 – 210Combined sources3
Beta strandi211 – 215Combined sources5
Turni217 – 219Combined sources3
Beta strandi237 – 245Combined sources9
Beta strandi248 – 258Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5FJVX-ray3.20A/B/C/D/E59-265[»]
ProteinModelPortaliQ15822.
SMRiQ15822.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3645. Eukaryota.
ENOG410XQGR. LUCA.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006756.
HOVERGENiHBG003756.
InParanoidiQ15822.
KOiK04804.
OMAiHIETIWI.
OrthoDBiEOG091G0R20.
PhylomeDBiQ15822.
TreeFamiTF315605.

Family and domain databases

Gene3Di1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProiIPR027361. Acetylcholine_rcpt_TM.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
IPR002394. Nicotinic_acetylcholine_rcpt.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q15822-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGPSCPVFLS FTKLSLWWLL LTPAGGEEAK RPPPRAPGDP LSSPSPTALP
60 70 80 90 100
QGGSHTETED RLFKHLFRGY NRWARPVPNT SDVVIVRFGL SIAQLIDVDE
110 120 130 140 150
KNQMMTTNVW LKQEWSDYKL RWNPTDFGNI TSLRVPSEMI WIPDIVLYNN
160 170 180 190 200
ADGEFAVTHM TKAHLFSTGT VHWVPPAIYK SSCSIDVTFF PFDQQNCKMK
210 220 230 240 250
FGSWTYDKAK IDLEQMEQTV DLKDYWESGE WAIVNATGTY NSKKYDCCAE
260 270 280 290 300
IYPDVTYAFV IRRLPLFYTI NLIIPCLLIS CLTVLVFYLP SDCGEKITLC
310 320 330 340 350
ISVLLSLTVF LLLITEIIPS TSLVIPLIGE YLLFTMIFVT LSIVITVFVL
360 370 380 390 400
NVHHRSPSTH TMPHWVRGAL LGCVPRWLLM NRPPPPVELC HPLRLKLSPS
410 420 430 440 450
YHWLESNVDA EEREVVVEEE DRWACAGHVA PSVGTLCSHG HLHSGASGPK
460 470 480 490 500
AEALLQEGEL LLSPHMQKAL EGVHYIADHL RSEDADSSVK EDWKYVAMVI
510 520
DRIFLWLFII VCFLGTIGLF LPPFLAGMI
Length:529
Mass (Da):59,765
Last modified:October 5, 2010 - v2
Checksum:iE47062A1145E8BCC
GO
Isoform 2 (identifier: Q15822-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-96: Missing.

Note: No experimental confirmation available.
Show »
Length:514
Mass (Da):58,140
Checksum:i777F58CA00518BC8
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02763922T → I.Corresponds to variant rs2472553dbSNPEnsembl.1
Natural variantiVAR_027640125T → A.3 PublicationsCorresponds to variant rs891398dbSNPEnsembl.1
Natural variantiVAR_027641279I → N in ENFL4; markedly increases receptor sensitivity to acetylcholine. 1 PublicationCorresponds to variant rs104894063dbSNPEnsembl.1
Natural variantiVAR_076498376R → W Found in patients with benign familial infantile seizures; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05515682 – 96Missing in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U62431 mRNA. Translation: AAB40109.1.
Y16281 mRNA. Translation: CAA76154.1.
AK296348 mRNA. Translation: BAG59031.1.
AF311103 Genomic DNA. No translation available.
BC153866 mRNA. Translation: AAI53867.1.
CCDSiCCDS6059.1. [Q15822-1]
CCDS64856.1. [Q15822-2]
RefSeqiNP_000733.2. NM_000742.3. [Q15822-1]
NP_001269384.1. NM_001282455.1. [Q15822-2]
XP_006716345.1. XM_006716282.1. [Q15822-1]
XP_011542690.1. XM_011544388.1. [Q15822-1]
UniGeneiHs.57718.

Genome annotation databases

EnsembliENST00000240132; ENSP00000240132; ENSG00000120903. [Q15822-2]
ENST00000407991; ENSP00000385026; ENSG00000120903. [Q15822-1]
GeneIDi1135.
KEGGihsa:1135.
UCSCiuc010lur.4. human. [Q15822-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U62431 mRNA. Translation: AAB40109.1.
Y16281 mRNA. Translation: CAA76154.1.
AK296348 mRNA. Translation: BAG59031.1.
AF311103 Genomic DNA. No translation available.
BC153866 mRNA. Translation: AAI53867.1.
CCDSiCCDS6059.1. [Q15822-1]
CCDS64856.1. [Q15822-2]
RefSeqiNP_000733.2. NM_000742.3. [Q15822-1]
NP_001269384.1. NM_001282455.1. [Q15822-2]
XP_006716345.1. XM_006716282.1. [Q15822-1]
XP_011542690.1. XM_011544388.1. [Q15822-1]
UniGeneiHs.57718.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5FJVX-ray3.20A/B/C/D/E59-265[»]
ProteinModelPortaliQ15822.
SMRiQ15822.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000385026.

Chemistry databases

BindingDBiQ15822.
ChEMBLiCHEMBL2109236.
DrugBankiDB00732. Atracurium besylate.
DB00810. Biperiden.
DB00411. Carbachol.
DB00565. Cisatracurium besylate.
DB01245. Decamethonium.
DB00514. Dextromethorphan.
DB01135. Doxacurium chloride.
DB00898. Ethanol.
DB00674. Galantamine.
DB00483. Gallamine Triethiodide.
DB00657. Mecamylamine.
DB01336. Metocurine.
DB01226. Mivacurium.
DB00184. Nicotine.
DB01337. Pancuronium.
DB01338. Pipecuronium.
DB00721. Procaine.
DB00728. Rocuronium.
DB01199. Tubocurarine.
DB01339. Vecuronium.
GuidetoPHARMACOLOGYi463.

PTM databases

iPTMnetiQ15822.
PhosphoSitePlusiQ15822.

Polymorphism and mutation databases

BioMutaiCHRNA2.
DMDMi308153405.

Proteomic databases

MaxQBiQ15822.
PaxDbiQ15822.
PRIDEiQ15822.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000240132; ENSP00000240132; ENSG00000120903. [Q15822-2]
ENST00000407991; ENSP00000385026; ENSG00000120903. [Q15822-1]
GeneIDi1135.
KEGGihsa:1135.
UCSCiuc010lur.4. human. [Q15822-1]

Organism-specific databases

CTDi1135.
DisGeNETi1135.
GeneCardsiCHRNA2.
GeneReviewsiCHRNA2.
H-InvDBHIX0034372.
HGNCiHGNC:1956. CHRNA2.
MalaCardsiCHRNA2.
MIMi118502. gene.
610353. phenotype.
neXtProtiNX_Q15822.
OpenTargetsiENSG00000120903.
Orphaneti98784. Autosomal dominant nocturnal frontal lobe epilepsy.
PharmGKBiPA26489.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3645. Eukaryota.
ENOG410XQGR. LUCA.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006756.
HOVERGENiHBG003756.
InParanoidiQ15822.
KOiK04804.
OMAiHIETIWI.
OrthoDBiEOG091G0R20.
PhylomeDBiQ15822.
TreeFamiTF315605.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000120903-MONOMER.
ReactomeiR-HSA-629594. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
R-HSA-629597. Highly calcium permeable nicotinic acetylcholine receptors.

Miscellaneous databases

ChiTaRSiCHRNA2. human.
GeneWikiiCHRNA2.
GenomeRNAii1135.
PROiQ15822.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120903.
CleanExiHS_CHRNA2.
ExpressionAtlasiQ15822. baseline and differential.
GenevisibleiQ15822. HS.

Family and domain databases

Gene3Di1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProiIPR027361. Acetylcholine_rcpt_TM.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
IPR002394. Nicotinic_acetylcholine_rcpt.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiACHA2_HUMAN
AccessioniPrimary (citable) accession number: Q15822
Secondary accession number(s): A8KAX3
, B4DK19, J3KMY9, Q9HAQ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 5, 2010
Last modified: November 30, 2016
This is version 156 of the entry and version 2 of the sequence. [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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.