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Q15822 (ACHA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neuronal acetylcholine receptor subunit alpha-2
Gene names
Name:CHRNA2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length529 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Involvement in disease

Epilepsy, nocturnal frontal lobe, 4 (ENFL4) [MIM:610353]: An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-2/CHRNA2 sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Epilepsy
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionIon channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcation transport

Inferred from direct assay Ref.1. Source: GOC

ion transport

Non-traceable author statement Ref.1. Source: UniProtKB

protein heterooligomerization

Inferred from electronic annotation. Source: Ensembl

signal transduction

Inferred from direct assay Ref.1. Source: UniProtKB

synaptic transmission

Traceable author statement. Source: Reactome

   Cellular_componentacetylcholine-gated channel complex

Inferred from direct assay Ref.1. Source: UniProtKB

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

integral component of membrane

Non-traceable author statement Ref.1. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionacetylcholine binding

Inferred from electronic annotation. Source: Ensembl

acetylcholine receptor activity

Inferred from direct assay Ref.1. Source: UniProtKB

acetylcholine-activated cation-selective channel activity

Inferred from direct assay Ref.1. Source: UniProtKB

drug binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15822-1)

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.
Isoform 2 (identifier: Q15822-2)

The sequence of this isoform differs from the canonical sequence as follows:
     82-96: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 529503Neuronal acetylcholine receptor subunit alpha-2
PRO_0000000340

Regions

Topological domain27 – 264238Extracellular
Transmembrane265 – 28925Helical; Potential
Transmembrane297 – 31519Helical; Potential
Transmembrane331 – 35222Helical; Potential
Topological domain353 – 502150Cytoplasmic
Transmembrane503 – 52119Helical; Potential

Amino acid modifications

Glycosylation791N-linked (GlcNAc...) Potential
Glycosylation1291N-linked (GlcNAc...) Potential
Glycosylation2351N-linked (GlcNAc...) Potential
Disulfide bond183 ↔ 197 By similarity
Disulfide bond247 ↔ 248Associated with receptor activation By similarity

Natural variations

Alternative sequence82 – 9615Missing in isoform 2.
VSP_055156
Natural variant221T → I.
Corresponds to variant rs2472553 [ dbSNP | Ensembl ].
VAR_027639
Natural variant1251T → A. Ref.1 Ref.2 Ref.3
Corresponds to variant rs891398 [ dbSNP | Ensembl ].
VAR_027640
Natural variant2791I → N in ENFL4; markedly increases receptor sensitivity to acetylcholine. Ref.6
VAR_027641

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 5, 2010. Version 2.
Checksum: E47062A1145E8BCC

FASTA52959,765
        10         20         30         40         50         60 
MGPSCPVFLS FTKLSLWWLL LTPAGGEEAK RPPPRAPGDP LSSPSPTALP QGGSHTETED 

        70         80         90        100        110        120 
RLFKHLFRGY NRWARPVPNT SDVVIVRFGL SIAQLIDVDE KNQMMTTNVW LKQEWSDYKL 

       130        140        150        160        170        180 
RWNPTDFGNI TSLRVPSEMI WIPDIVLYNN ADGEFAVTHM TKAHLFSTGT VHWVPPAIYK 

       190        200        210        220        230        240 
SSCSIDVTFF PFDQQNCKMK FGSWTYDKAK IDLEQMEQTV DLKDYWESGE WAIVNATGTY 

       250        260        270        280        290        300 
NSKKYDCCAE IYPDVTYAFV IRRLPLFYTI NLIIPCLLIS CLTVLVFYLP SDCGEKITLC 

       310        320        330        340        350        360 
ISVLLSLTVF LLLITEIIPS TSLVIPLIGE YLLFTMIFVT LSIVITVFVL NVHHRSPSTH 

       370        380        390        400        410        420 
TMPHWVRGAL LGCVPRWLLM NRPPPPVELC HPLRLKLSPS YHWLESNVDA EEREVVVEEE 

       430        440        450        460        470        480 
DRWACAGHVA PSVGTLCSHG HLHSGASGPK AEALLQEGEL LLSPHMQKAL EGVHYIADHL 

       490        500        510        520 
RSEDADSSVK EDWKYVAMVI DRIFLWLFII VCFLGTIGLF LPPFLAGMI 

« Hide

Isoform 2 [UniParc].

Checksum: 777F58CA00518BC8
Show »

FASTA51458,140

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS6059.1.
RefSeqNP_000733.2. NM_000742.3.
XP_006716345.1. XM_006716282.1.
UniGeneHs.57718.

3D structure databases

ProteinModelPortalQ15822.
SMRQ15822. Positions 56-361, 500-527.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000240132.

Chemistry

BindingDBQ15822.
ChEMBLCHEMBL2109236.
DrugBankDB00732. Atracurium.
DB00810. Biperiden.
DB00411. Carbachol.
DB00565. Cisatracurium Besylate.
DB01245. Decamethonium.
DB00514. Dextromethorphan.
DB01334. Doxacurium.
DB01135. Doxacurium chloride.
DB00483. Gallamine Triethiodide.
DB00504. Levallorphan.
DB00657. Mecamylamine.
DB01336. Metocurine.
DB00416. Metocurine Iodide.
DB01226. Mivacurium.
DB00184. Nicotine.
DB01337. Pancuronium.
DB01338. Pipecuronium.
DB00728. Rocuronium.
DB01199. Tubocurarine.
GuidetoPHARMACOLOGY463.

PTM databases

PhosphoSiteQ15822.

Polymorphism databases

DMDM308153405.

Proteomic databases

PaxDbQ15822.
PRIDEQ15822.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000240132; ENSP00000240132; ENSG00000120903.
ENST00000407991; ENSP00000385026; ENSG00000120903.
ENST00000520933; ENSP00000429616; ENSG00000120903.
GeneID1135.
KEGGhsa:1135.
UCSCuc010lur.3. human.

Organism-specific databases

CTD1135.
GeneCardsGC08M027374.
GeneReviewsCHRNA2.
H-InvDBHIX0034372.
HGNCHGNC:1956. CHRNA2.
MIM118502. gene.
610353. phenotype.
neXtProtNX_Q15822.
Orphanet98784. Autosomal dominant nocturnal frontal lobe epilepsy.
PharmGKBPA26489.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG290206.
HOGENOMHOG000006756.
HOVERGENHBG003756.
InParanoidQ15822.
KOK04804.
OMAACAGHVA.
OrthoDBEOG72JWGV.
PhylomeDBQ15822.
TreeFamTF315605.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressQ15822.
BgeeQ15822.
CleanExHS_CHRNA2.
GenevestigatorQ15822.

Family and domain databases

Gene3D1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProIPR027361. 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]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCHRNA2. human.
GeneWikiCHRNA2.
GenomeRNAi1135.
NextBio4722.
PROQ15822.
SOURCESearch...

Entry information

Entry nameACHA2_HUMAN
AccessionPrimary (citable) accession number: Q15822
Secondary accession number(s): A8KAX3 expand/collapse secondary AC list , B4DK19, J3KMY9, Q9HAQ3
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 5, 2010
Last modified: July 9, 2014
This is version 135 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM