Q15822 (ACHA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neuronal acetylcholine receptor subunit alpha-2

Gene names

Name:

CHRNA2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	529 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 junction › synapse › postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Involvement in disease	Nocturnal frontal lobe epilepsy 4 (ENFL4) [MIM:610353]: An autosomal dominant 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.5
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 process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Polymorphism
Disease	Disease mutation Epilepsy
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Ion channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	acetylcholine-gated channel complex Inferred from direct assay Ref.1. Source: UniProtKB cell junction Inferred from electronic annotation. Source: UniProtKB-KW postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	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
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 26	26	Potential
	Chain	27 – 529	503	Neuronal acetylcholine receptor subunit alpha-2		PRO_0000000340
Regions
	Topological domain	27 – 264	238	Extracellular
	Transmembrane	265 – 289	25	Helical; Potential
	Transmembrane	297 – 315	19	Helical; Potential
	Transmembrane	331 – 352	22	Helical; Potential
	Topological domain	353 – 502	150	Cytoplasmic
	Transmembrane	503 – 521	19	Helical; Potential
Amino acid modifications
	Glycosylation	79	1	N-linked (GlcNAc...) Potential
	Glycosylation	129	1	N-linked (GlcNAc...) Potential
	Glycosylation	235	1	N-linked (GlcNAc...) Potential
	Disulfide bond	183 ↔ 197		By similarity
	Disulfide bond	247 ↔ 248		Associated with receptor activation By similarity
Natural variations
	Natural variant	22	1	T → I. Corresponds to variant rs2472553 [ dbSNP | Ensembl ].		VAR_027639
	Natural variant	125	1	T → A. Ref.1 Ref.2 Corresponds to variant rs891398 [ dbSNP | Ensembl ].		VAR_027640
	Natural variant	279	1	I → N in ENFL4; markedly increases receptor sensitivity to acetylcholine. Ref.5		VAR_027641

Sequences

	Sequence		Length	Mass (Da)
	Q15822 [UniParc]. Last modified October 5, 2010. Version 2. Checksum: E47062A1145E8BCC	FASTA	529	59,765
	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

References

	« Hide 'large scale' referencesShow '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], VARIANT ALA-125. Tissue: Hypothalamus.
[2]	Groot Kormelink P.J. Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-125.
[3]	"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].
[4]	"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].
[5]	"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.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	U62431 mRNA. Translation: AAB40109.1. Y16281 mRNA. Translation: CAA76154.1. AF311103 Genomic DNA. No translation available. BC153866 mRNA. Translation: AAI53867.1.
IPI	IPI00019942.
RefSeq	NP_000733.2. NM_000742.3.
UniGene	Hs.57718.
3D structure databases
ProteinModelPortal	Q15822.
SMR	Q15822. Positions 56-527.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000240132.
PTM databases
PhosphoSite	Q15822.
Polymorphism databases
DMDM	308153405.
Proteomic databases
PaxDb	Q15822.
PRIDE	Q15822.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000407991; ENSP00000385026; ENSG00000120903. ENST00000520933; ENSP00000429616; ENSG00000120903.
GeneID	1135.
KEGG	hsa:1135.
UCSC	uc010lur.3. human.
Organism-specific databases
CTD	1135.
GeneCards	GC08M027374.
H-InvDB	HIX0034372.
HGNC	HGNC:1956. CHRNA2.
MIM	118502. gene. 610353. phenotype.
neXtProt	NX_Q15822.
Orphanet	98784. Nocturnal frontal lobe epilepsy.
PharmGKB	PA26489.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG290206.
HOGENOM	HOG000006756.
HOVERGEN	HBG003756.
InParanoid	Q15822.
KO	K04804.
OMA	ACAGHVA.
OrthoDB	EOG480HWN.
PhylomeDB	Q15822.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System.
Gene expression databases
ArrayExpress	Q15822.
Bgee	Q15822.
CleanEx	HS_CHRNA2.
Genevestigator	Q15822.
GermOnline	ENSG00000120903. Homo sapiens.
Family and domain databases
Gene3D	2.70.170.10. 1 hit.
InterPro	IPR006202. Neur_chan_lig-bd. IPR006201. Neur_channel. IPR006029. Neurotrans-gated_channel_TM. IPR018000. Neurotransmitter_ion_chnl_CS. IPR002394. Nicotinic_acetylcholine_rcpt. [Graphical view]
PANTHER	PTHR18945. PTHR18945. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR00254. NICOTINICR. PR00252. NRIONCHANNEL.
SUPFAM	SSF90112. Neu_channel_TM. 1 hit. SSF63712. Neur_chan_LBD. 1 hit.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q15822.
ChEMBL	CHEMBL1794.
ChiTaRS	CHRNA2. human.
DrugBank	DB00732. 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.
GenomeRNAi	1135.
NextBio	4722.
SOURCE	Search...

Entry information

Entry name

ACHA2_HUMAN

Accession

Primary (citable) accession number: Q15822
Secondary accession number(s): A8KAX3, Q9HAQ3

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	October 5, 2010
Last modified:	May 1, 2013
This is version 122 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.