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Q15822

- ACHA2_HUMAN

UniProt

Q15822 - ACHA2_HUMAN

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
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (05 Oct 2010)
      Previous versions | rss
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    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 transport Source: GOC
    2. ion transport Source: UniProtKB
    3. protein heterooligomerization Source: Ensembl
    4. signal transduction Source: UniProtKB
    5. synaptic transmission Source: Reactome

    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini27 – 264238ExtracellularAdd
    BLAST
    Topological domaini353 – 502150CytoplasmicAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei265 – 28925HelicalSequence AnalysisAdd
    BLAST
    Transmembranei297 – 31519HelicalSequence AnalysisAdd
    BLAST
    Transmembranei331 – 35222HelicalSequence AnalysisAdd
    BLAST
    Transmembranei503 – 52119HelicalSequence AnalysisAdd
    BLAST

    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. 1 PublicationVSP_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]
    CCDS64856.1. [Q15822-2]
    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. [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:
    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 ]
    CCDS64856.1. [Q15822-2 ]
    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.
    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.
    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 . [Q15822-2 ]
    ENST00000407991 ; ENSP00000385026 ; ENSG00000120903 . [Q15822-1 ]
    ENST00000520933 ; ENSP00000429616 ; ENSG00000120903 . [Q15822-1 ]
    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

    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: October 1, 2014
    This is version 137 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