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Q15822

- ACHA2_HUMAN

UniProt

Q15822 - ACHA2_HUMAN

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Protein

Neuronal acetylcholine receptor subunit alpha-2

Gene
CHRNA2
Organism
Homo sapiens (Human)
Status
Reviewed - 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: InterPro
  2. acetylcholine binding Source: Ensembl
  3. acetylcholine receptor activity Source: UniProtKB
  4. drug binding Source: Ensembl

GO - Biological processi

  1. cation transport Source: GOC
  2. ion transport Source: UniProtKB
  3. protein heterooligomerization Source: Ensembl
  4. signal transduction Source: UniProtKB
  5. 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 – 28925Helical; Reviewed predictionAdd
BLAST
Transmembranei297 – 31519Helical; Reviewed predictionAdd
BLAST
Transmembranei331 – 35222Helical; Reviewed predictionAdd
BLAST
Topological domaini353 – 502150CytoplasmicAdd
BLAST
Transmembranei503 – 52119Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. acetylcholine-gated channel complex Source: UniProtKB
  2. cell junction Source: UniProtKB-KW
  3. integral component of membrane Source: UniProtKB-KW
  4. plasma membrane Source: Reactome
  5. postsynaptic membrane Source: UniProtKB-KW
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) [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.1 Publication
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 – 2626 Reviewed predictionAdd
BLAST
Chaini27 – 529503Neuronal acetylcholine receptor subunit alpha-2PRO_0000000340Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ15822.
PRIDEiQ15822.

PTM databases

PhosphoSiteiQ15822.

Expressioni

Gene expression databases

ArrayExpressiQ15822.
BgeeiQ15822.
CleanExiHS_CHRNA2.
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 56-361, 500-527.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG290206.
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. Align

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

MGPSCPVFLS FTKLSLWWLL LTPAGGEEAK RPPPRAPGDP LSSPSPTALP    50
QGGSHTETED RLFKHLFRGY NRWARPVPNT SDVVIVRFGL SIAQLIDVDE 100
KNQMMTTNVW LKQEWSDYKL RWNPTDFGNI TSLRVPSEMI WIPDIVLYNN 150
ADGEFAVTHM TKAHLFSTGT VHWVPPAIYK SSCSIDVTFF PFDQQNCKMK 200
FGSWTYDKAK IDLEQMEQTV DLKDYWESGE WAIVNATGTY NSKKYDCCAE 250
IYPDVTYAFV IRRLPLFYTI NLIIPCLLIS CLTVLVFYLP SDCGEKITLC 300
ISVLLSLTVF LLLITEIIPS TSLVIPLIGE YLLFTMIFVT LSIVITVFVL 350
NVHHRSPSTH TMPHWVRGAL LGCVPRWLLM NRPPPPVELC HPLRLKLSPS 400
YHWLESNVDA EEREVVVEEE DRWACAGHVA PSVGTLCSHG HLHSGASGPK 450
AEALLQEGEL LLSPHMQKAL EGVHYIADHL RSEDADSSVK EDWKYVAMVI 500
DRIFLWLFII VCFLGTIGLF LPPFLAGMI 529
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. VSP_055156Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
RefSeqiNP_000733.2. NM_000742.3.
NP_001269384.1. NM_001282455.1.
XP_006716345.1. XM_006716282.1.
UniGeneiHs.57718.

Genome annotation databases

EnsembliENST00000240132; ENSP00000240132; ENSG00000120903.
ENST00000407991; ENSP00000385026; ENSG00000120903.
ENST00000520933; ENSP00000429616; ENSG00000120903.
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6059.1. [Q15822-1 ]
RefSeqi NP_000733.2. NM_000742.3.
NP_001269384.1. NM_001282455.1.
XP_006716345.1. XM_006716282.1.
UniGenei Hs.57718.

3D structure databases

ProteinModelPortali Q15822.
SMRi Q15822. Positions 56-361, 500-527.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000240132.

Chemistry

BindingDBi Q15822.
ChEMBLi CHEMBL2109236.
DrugBanki 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.
GuidetoPHARMACOLOGYi 463.

PTM databases

PhosphoSitei Q15822.

Polymorphism databases

DMDMi 308153405.

Proteomic databases

PaxDbi Q15822.
PRIDEi Q15822.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000240132 ; ENSP00000240132 ; ENSG00000120903 .
ENST00000407991 ; ENSP00000385026 ; ENSG00000120903 .
ENST00000520933 ; ENSP00000429616 ; ENSG00000120903 .
GeneIDi 1135.
KEGGi hsa:1135.
UCSCi uc010lur.3. human. [Q15822-1 ]

Organism-specific databases

CTDi 1135.
GeneCardsi GC08M027374.
GeneReviewsi CHRNA2.
H-InvDB HIX0034372.
HGNCi HGNC:1956. CHRNA2.
MIMi 118502. gene.
610353. phenotype.
neXtProti NX_Q15822.
Orphaneti 98784. Autosomal dominant nocturnal frontal lobe epilepsy.
PharmGKBi PA26489.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG290206.
HOGENOMi HOG000006756.
HOVERGENi HBG003756.
InParanoidi Q15822.
KOi K04804.
OMAi ACAGHVA.
OrthoDBi EOG72JWGV.
PhylomeDBi Q15822.
TreeFami TF315605.

Enzyme and pathway databases

Reactomei REACT_22303. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
REACT_22352. Highly calcium permeable nicotinic acetylcholine receptors.

Miscellaneous databases

ChiTaRSi CHRNA2. human.
GeneWikii CHRNA2.
GenomeRNAii 1135.
NextBioi 35472674.
PROi Q15822.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q15822.
Bgeei Q15822.
CleanExi HS_CHRNA2.
Genevestigatori Q15822.

Family and domain databases

Gene3Di 1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProi IPR027361. 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 ]
PANTHERi PTHR18945. PTHR18945. 1 hit.
Pfami PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view ]
PRINTSi PR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMi SSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsi TIGR00860. LIC. 1 hit.
PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 136 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

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