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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

  1. acetylcholine-activated cation-selective channel activity Source: UniProtKB
  2. acetylcholine binding Source: Ensembl
  3. acetylcholine receptor activity Source: UniProtKB
  4. drug binding Source: Ensembl

GO - Biological processi

  1. cation transmembrane transport Source: GOC
  2. cation transport Source: GOC
  3. ion transport Source: UniProtKB
  4. protein heterooligomerization Source: Ensembl
  5. signal transduction Source: UniProtKB
  6. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

ReactomeiREACT_22303. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
REACT_22352. 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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:1956. CHRNA2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 264238ExtracellularAdd
BLAST
Transmembranei265 – 28925HelicalSequence AnalysisAdd
BLAST
Transmembranei297 – 31519HelicalSequence AnalysisAdd
BLAST
Transmembranei331 – 35222HelicalSequence AnalysisAdd
BLAST
Topological domaini353 – 502150CytoplasmicAdd
BLAST
Transmembranei503 – 52119HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. acetylcholine-gated channel complex Source: UniProtKB
  2. cell junction Source: UniProtKB-KW
  3. integral component of membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
  5. 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, 41 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti279 – 2791I → N in ENFL4; markedly increases receptor sensitivity to acetylcholine. 1 Publication
VAR_027641

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi610353. phenotype.
Orphaneti98784. Autosomal dominant nocturnal frontal lobe epilepsy.
PharmGKBiPA26489.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 529503Neuronal acetylcholine receptor subunit alpha-2PRO_0000000340Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi79 – 791N-linked (GlcNAc...)Sequence Analysis
Glycosylationi129 – 1291N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi183 ↔ 197By similarity
Glycosylationi235 – 2351N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi247 ↔ 248Associated with receptor activationBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ15822.
PaxDbiQ15822.
PRIDEiQ15822.

PTM databases

PhosphoSiteiQ15822.

Expressioni

Gene expression databases

BgeeiQ15822.
CleanExiHS_CHRNA2.
ExpressionAtlasiQ15822. baseline and differential.
GenevestigatoriQ15822.

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.ENSP00000240132.

Structurei

3D structure databases

ProteinModelPortaliQ15822.
SMRiQ15822. Positions 56-429, 500-527.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG290206.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006756.
HOVERGENiHBG003756.
InParanoidiQ15822.
KOiK04804.
OMAiACAGHVA.
OrthoDBiEOG72JWGV.
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. 1 hit.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221T → I.
Corresponds to variant rs2472553 [ dbSNP | Ensembl ].
VAR_027639
Natural varianti125 – 1251T → A.3 Publications
Corresponds to variant rs891398 [ dbSNP | Ensembl ].
VAR_027640
Natural varianti279 – 2791I → N in ENFL4; markedly increases receptor sensitivity to acetylcholine. 1 Publication
VAR_027641

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei82 – 9615Missing in isoform 2. 1 PublicationVSP_055156Add
BLAST

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]
UniGeneiHs.57718.

Genome annotation databases

EnsembliENST00000240132; ENSP00000240132; ENSG00000120903. [Q15822-2]
ENST00000407991; ENSP00000385026; ENSG00000120903. [Q15822-1]
ENST00000520933; ENSP00000429616; ENSG00000120903. [Q15822-1]
GeneIDi1135.
KEGGihsa:1135.
UCSCiuc010lur.3. human. [Q15822-1]

Polymorphism databases

DMDMi308153405.

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]
UniGeneiHs.57718.

3D structure databases

ProteinModelPortaliQ15822.
SMRiQ15822. Positions 56-429, 500-527.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000240132.

Chemistry

BindingDBiQ15822.
ChEMBLiCHEMBL2109236.
DrugBankiDB00732. Atracurium.
DB00810. Biperiden.
DB00411. Carbachol.
DB00565. Cisatracurium Besylate.
DB01245. Decamethonium.
DB00514. Dextromethorphan.
DB01135. Doxacurium chloride.
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

PhosphoSiteiQ15822.

Polymorphism databases

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]
ENST00000520933; ENSP00000429616; ENSG00000120903. [Q15822-1]
GeneIDi1135.
KEGGihsa:1135.
UCSCiuc010lur.3. human. [Q15822-1]

Organism-specific databases

CTDi1135.
GeneCardsiGC08M027317.
GeneReviewsiCHRNA2.
H-InvDBHIX0034372.
HGNCiHGNC:1956. CHRNA2.
MIMi118502. gene.
610353. phenotype.
neXtProtiNX_Q15822.
Orphaneti98784. Autosomal dominant nocturnal frontal lobe epilepsy.
PharmGKBiPA26489.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG290206.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006756.
HOVERGENiHBG003756.
InParanoidiQ15822.
KOiK04804.
OMAiACAGHVA.
OrthoDBiEOG72JWGV.
PhylomeDBiQ15822.
TreeFamiTF315605.

Enzyme and pathway databases

ReactomeiREACT_22303. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
REACT_22352. Highly calcium permeable nicotinic acetylcholine receptors.

Miscellaneous databases

ChiTaRSiCHRNA2. human.
GeneWikiiCHRNA2.
GenomeRNAii1135.
NextBioi35472674.
PROiQ15822.
SOURCEiSearch...

Gene expression databases

BgeeiQ15822.
CleanExiHS_CHRNA2.
ExpressionAtlasiQ15822. baseline and differential.
GenevestigatoriQ15822.

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. 1 hit.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits."
    Elliott K.J., Ellis S.B., Berckhan K.J., Urrutia A., Chavez-Noriega L.E., Johnson E.C., Velicelebi G., Harpold M.M.
    J. Mol. Neurosci. 7:217-228(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-125.
    Tissue: Hypothalamus.
  2. Groot Kormelink P.J.
    Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-125.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-125.
    Tissue: Thalamus.
  4. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. "Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear."
    Aridon P., Marini C., Di Resta C., Brilli E., De Fusco M., Politi F., Parrini E., Manfredi I., Pisano T., Pruna D., Curia G., Cianchetti C., Pasqualetti M., Becchetti A., Guerrini R., Casari G.
    Am. J. Hum. Genet. 79:342-350(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ENFL4 ASN-279, CHARACTERIZATION OF VARIANT ENFL4 ASN-279.

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: January 7, 2015
This is version 140 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.