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Q16515

- ASIC2_HUMAN

UniProt

Q16515 - ASIC2_HUMAN

Protein

Acid-sensing ion channel 2

Gene

ASIC2

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 1 (01 Nov 1997)
      Previous versions | rss
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    Functioni

    Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li+ and K+. Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate.

    GO - Molecular functioni

    1. ion gated channel activity Source: Ensembl
    2. ligand-gated sodium channel activity Source: ProtInc
    3. protein binding Source: IntAct
    4. voltage-gated sodium channel activity Source: Ensembl

    GO - Biological processi

    1. central nervous system development Source: ProtInc
    2. detection of mechanical stimulus involved in sensory perception Source: Ensembl
    3. ion transmembrane transport Source: Reactome
    4. monovalent inorganic cation transport Source: ProtInc
    5. negative regulation of apoptotic process Source: Ensembl
    6. peripheral nervous system development Source: ProtInc
    7. phototransduction Source: Ensembl
    8. positive regulation of synapse assembly Source: Ensembl
    9. protein localization to synapse Source: Ensembl
    10. regulation of blood coagulation Source: UniProt
    11. regulation of gene expression Source: UniProt
    12. regulation of membrane potential Source: Ensembl
    13. regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback Source: Ensembl
    14. regulation of vasoconstriction Source: Ensembl
    15. response to acid chemical Source: Ensembl
    16. sensory perception of sound Source: Ensembl
    17. sensory perception of sour taste Source: UniProt
    18. sodium ion transmembrane transport Source: GOC
    19. synaptic transmission Source: ProtInc
    20. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Ion channel, Sodium channel

    Keywords - Biological processi

    Ion transport, Sodium transport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Acid-sensing ion channel 2
    Short name:
    ASIC2
    Alternative name(s):
    Amiloride-sensitive brain sodium channel
    Amiloride-sensitive cation channel 1, neuronal
    Amiloride-sensitive cation channel neuronal 1
    Brain sodium channel 1
    Short name:
    BNC1
    Short name:
    BNaC1
    Mammalian degenerin homolog
    Gene namesi
    Name:ASIC2
    Synonyms:ACCN, ACCN1, BNAC1, MDEG
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:99. ASIC2.

    Subcellular locationi

    Cell membrane By similarity; Multi-pass membrane protein By similarity
    Note: Localized at the plasma membrane of neurons, in the soma and punctated peripheral processes.By similarity

    GO - Cellular componenti

    1. dendritic spine Source: Ensembl
    2. integral component of plasma membrane Source: ProtInc
    3. neuronal cell body Source: Ensembl
    4. plasma membrane Source: Reactome
    5. synapse Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24433.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 512512Acid-sensing ion channel 2PRO_0000181290Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi92 ↔ 193By similarity
    Disulfide bondi171 ↔ 178By similarity
    Disulfide bondi289 ↔ 364By similarity
    Disulfide bondi307 ↔ 360By similarity
    Disulfide bondi311 ↔ 358By similarity
    Disulfide bondi320 ↔ 342By similarity
    Disulfide bondi322 ↔ 334By similarity
    Glycosylationi365 – 3651N-linked (GlcNAc...)By similarity
    Glycosylationi392 – 3921N-linked (GlcNAc...)By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ16515.
    PRIDEiQ16515.

    PTM databases

    PhosphoSiteiQ16515.

    Expressioni

    Tissue specificityi

    Brain and spinal cord. Isoform 1 is also detected in testis, liver, colon and ovary.2 Publications

    Gene expression databases

    ArrayExpressiQ16515.
    BgeeiQ16515.
    CleanExiHS_ACCN1.
    GenevestigatoriQ16515.

    Organism-specific databases

    HPAiHPA052112.

    Interactioni

    Subunit structurei

    Homotrimer or heterotrimer with other ASIC proteins By similarity. Interacts with STOM; this regulates channel activity By similarity. Interacts with PRKCABP and ASIC3.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PICK1Q9NRD53EBI-79149,EBI-79165

    Protein-protein interaction databases

    BioGridi106558. 3 interactions.
    IntActiQ16515. 1 interaction.
    MINTiMINT-223746.
    STRINGi9606.ENSP00000225823.

    Structurei

    3D structure databases

    ProteinModelPortaliQ16515.
    SMRiQ16515. Positions 50-450.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3737CytoplasmicBy similarityAdd
    BLAST
    Topological domaini59 – 427369ExtracellularBy similarityAdd
    BLAST
    Topological domaini449 – 51264CytoplasmicBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei38 – 5821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei428 – 44821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG262945.
    HOGENOMiHOG000247010.
    HOVERGENiHBG004150.
    KOiK04828.
    OMAiLCNNNPL.
    OrthoDBiEOG72VH5P.
    PhylomeDBiQ16515.
    TreeFamiTF330663.

    Family and domain databases

    InterProiIPR004724. EnaC.
    IPR001873. Na+channel_ASC.
    IPR020903. Na+channel_ASC_CS.
    [Graphical view]
    PANTHERiPTHR11690. PTHR11690. 1 hit.
    PfamiPF00858. ASC. 1 hit.
    [Graphical view]
    PRINTSiPR01078. AMINACHANNEL.
    TIGRFAMsiTIGR00859. ENaC. 1 hit.
    PROSITEiPS01206. ASC. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q16515-1) [UniParc]FASTAAdd to Basket

    Also known as: Asic2a

    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

    MDLKESPSEG SLQPSSIQIF ANTSTLHGIR HIFVYGPLTI RRVLWAVAFV    50
    GSLGLLLVES SERVSYYFSY QHVTKVDEVV AQSLVFPAVT LCNLNGFRFS 100
    RLTTNDLYHA GELLALLDVN LQIPDPHLAD PSVLEALRQK ANFKHYKPKQ 150
    FSMLEFLHRV GHDLKDMMLY CKFKGQECGH QDFTTVFTKY GKCYMFNSGE 200
    DGKPLLTTVK GGTGNGLEIM LDIQQDEYLP IWGETEETTF EAGVKVQIHS 250
    QSEPPFIQEL GFGVAPGFQT FVATQEQRLT YLPPPWGECR SSEMGLDFFP 300
    VYSITACRID CETRYIVENC NCRMVHMPGD APFCTPEQHK ECAEPALGLL 350
    AEKDSNYCLC RTPCNLTRYN KELSMVKIPS KTSAKYLEKK FNKSEKYISE 400
    NILVLDIFFE ALNYETIEQK KAYEVAALLG DIGGQMGLFI GASILTILEL 450
    FDYIYELIKE KLLDLLGKEE DEGSHDENVS TCDTMPNHSE TISHTVNVPL 500
    QTTLGTLEEI AC 512
    Length:512
    Mass (Da):57,709
    Last modified:November 1, 1997 - v1
    Checksum:i7C95B0B32EFF2814
    GO
    Isoform 2 (identifier: Q16515-2) [UniParc]FASTAAdd to Basket

    Also known as: Asic2b, MDEG2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-184: Missing.
         185-185: T → MSRIGGAGLP...ELCGPHNFSS

    Note: No experimental confirmation available.Curated

    Show »
    Length:563
    Mass (Da):62,887
    Checksum:i821B2B1956DDB563
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti495 – 4951T → A in AAC50432. (PubMed:8626462)Curated
    Isoform 2 (identifier: Q16515-2)
    Sequence conflicti67 – 671H → R in CAD38879. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti354 – 3541D → G.
    Corresponds to variant rs16967895 [ dbSNP | Ensembl ].
    VAR_052036

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 184184Missing in isoform 2. 1 PublicationVSP_015590Add
    BLAST
    Alternative sequencei185 – 1851T → MSRIGGAGLPAAALTGPGRF RMAREEPAPAALAAAGQPGG GRGGERALQGPGVARRGRPS LSRAKLHGLRHMCAGRTAAG GSFQRRALWVLAFCTSFGLL LSWSSNRLLYWLSFPSHTRV HREWSRQLPFPAVTVCNNNP LRFPRLSKGDLYYAGHWLGL LLPNRTARPLVSELLRGDEP RRQWFRKLADFRLFLPPRHF EGISAAFMDRLGHQLEDMLL SCKYRGELCGPHNFSS in isoform 2. 1 PublicationVSP_015591

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U50352 mRNA. Translation: AAC50432.1.
    U53212 mRNA. Translation: AAC50498.1.
    U57352 mRNA. Translation: AAB49182.1.
    AL834182 mRNA. Translation: CAD38879.1.
    AC003687 Genomic DNA. No translation available.
    AC004147 Genomic DNA. No translation available.
    AC005549 Genomic DNA. No translation available.
    AC008133 Genomic DNA. No translation available.
    AC011824 Genomic DNA. No translation available.
    AC015751 Genomic DNA. No translation available.
    AC024610 Genomic DNA. No translation available.
    AC024614 Genomic DNA. No translation available.
    AC025898 Genomic DNA. No translation available.
    AC027233 Genomic DNA. No translation available.
    AC078907 Genomic DNA. No translation available.
    AC123769 Genomic DNA. No translation available.
    BC075042 mRNA. Translation: AAH75042.1.
    BC075043 mRNA. Translation: AAH75043.1.
    CCDSiCCDS11276.1. [Q16515-2]
    CCDS42296.1. [Q16515-1]
    RefSeqiNP_001085.2. NM_001094.4. [Q16515-1]
    NP_899233.1. NM_183377.1. [Q16515-2]
    UniGeneiHs.368417.

    Genome annotation databases

    EnsembliENST00000225823; ENSP00000225823; ENSG00000108684. [Q16515-2]
    ENST00000359872; ENSP00000352934; ENSG00000108684. [Q16515-1]
    GeneIDi40.
    KEGGihsa:40.
    UCSCiuc002hhu.3. human. [Q16515-1]

    Polymorphism databases

    DMDMi2500840.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U50352 mRNA. Translation: AAC50432.1 .
    U53212 mRNA. Translation: AAC50498.1 .
    U57352 mRNA. Translation: AAB49182.1 .
    AL834182 mRNA. Translation: CAD38879.1 .
    AC003687 Genomic DNA. No translation available.
    AC004147 Genomic DNA. No translation available.
    AC005549 Genomic DNA. No translation available.
    AC008133 Genomic DNA. No translation available.
    AC011824 Genomic DNA. No translation available.
    AC015751 Genomic DNA. No translation available.
    AC024610 Genomic DNA. No translation available.
    AC024614 Genomic DNA. No translation available.
    AC025898 Genomic DNA. No translation available.
    AC027233 Genomic DNA. No translation available.
    AC078907 Genomic DNA. No translation available.
    AC123769 Genomic DNA. No translation available.
    BC075042 mRNA. Translation: AAH75042.1 .
    BC075043 mRNA. Translation: AAH75043.1 .
    CCDSi CCDS11276.1. [Q16515-2 ]
    CCDS42296.1. [Q16515-1 ]
    RefSeqi NP_001085.2. NM_001094.4. [Q16515-1 ]
    NP_899233.1. NM_183377.1. [Q16515-2 ]
    UniGenei Hs.368417.

    3D structure databases

    ProteinModelPortali Q16515.
    SMRi Q16515. Positions 50-450.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106558. 3 interactions.
    IntActi Q16515. 1 interaction.
    MINTi MINT-223746.
    STRINGi 9606.ENSP00000225823.

    Chemistry

    ChEMBLi CHEMBL1628467.
    DrugBanki DB00594. Amiloride.
    GuidetoPHARMACOLOGYi 685.

    PTM databases

    PhosphoSitei Q16515.

    Polymorphism databases

    DMDMi 2500840.

    Proteomic databases

    PaxDbi Q16515.
    PRIDEi Q16515.

    Protocols and materials databases

    DNASUi 40.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000225823 ; ENSP00000225823 ; ENSG00000108684 . [Q16515-2 ]
    ENST00000359872 ; ENSP00000352934 ; ENSG00000108684 . [Q16515-1 ]
    GeneIDi 40.
    KEGGi hsa:40.
    UCSCi uc002hhu.3. human. [Q16515-1 ]

    Organism-specific databases

    CTDi 40.
    GeneCardsi GC17M031341.
    HGNCi HGNC:99. ASIC2.
    HPAi HPA052112.
    MIMi 601784. gene.
    neXtProti NX_Q16515.
    PharmGKBi PA24433.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG262945.
    HOGENOMi HOG000247010.
    HOVERGENi HBG004150.
    KOi K04828.
    OMAi LCNNNPL.
    OrthoDBi EOG72VH5P.
    PhylomeDBi Q16515.
    TreeFami TF330663.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GeneWikii ACCN1.
    GenomeRNAii 40.
    NextBioi 157.
    PROi Q16515.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q16515.
    Bgeei Q16515.
    CleanExi HS_ACCN1.
    Genevestigatori Q16515.

    Family and domain databases

    InterProi IPR004724. EnaC.
    IPR001873. Na+channel_ASC.
    IPR020903. Na+channel_ASC_CS.
    [Graphical view ]
    PANTHERi PTHR11690. PTHR11690. 1 hit.
    Pfami PF00858. ASC. 1 hit.
    [Graphical view ]
    PRINTSi PR01078. AMINACHANNEL.
    TIGRFAMsi TIGR00859. ENaC. 1 hit.
    PROSITEi PS01206. ASC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and expression of a novel human brain Na+ channel."
      Price M.P., Snyder P.M., Welsh M.J.
      J. Biol. Chem. 271:7879-7882(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans."
      Waldmann R., Champigny G., Voilley N., Lauritzen I., Lazdunski M.
      J. Biol. Chem. 271:10433-10436(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Brain.
    3. "BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels."
      Garcia-Anoveros J., Derfler B.H., Neville-Golden J., Hyman B.T., Corey D.P.
      Proc. Natl. Acad. Sci. U.S.A. 94:1459-1464(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Frontal cortex.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Amygdala.
    5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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).
      Tissue: Brain.
    7. "Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric proton-gated channels sensitive to Gd3+."
      Babinski K., Catarsi S., Biagini G., Seguela P.
      J. Biol. Chem. 275:28519-28525(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ASIC3, TISSUE SPECIFICITY.
    8. "Interaction of the synaptic protein PICK1 (protein interacting with C kinase 1) with the non-voltage gated sodium channels BNC1 (brain Na+ channel 1) and ASIC (acid-sensing ion channel)."
      Hruska-Hageman A.M., Wemmie J.A., Price M.P., Welsh M.J.
      Biochem. J. 361:443-450(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PRKCABP.

    Entry informationi

    Entry nameiASIC2_HUMAN
    AccessioniPrimary (citable) accession number: Q16515
    Secondary accession number(s): E9PBX2
    , Q13553, Q6DJU1, Q8N3E2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 137 of the entry and version 1 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

    Miscellaneous

    Inhibited by anti-inflammatory drugs like salicylic acid By similarity. Regulated by Zn2+.By similarity

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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