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Q16515

- ASIC2_HUMAN

UniProt

Q16515 - ASIC2_HUMAN

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Protein
Acid-sensing ion channel 2
Gene
ASIC2, ACCN, ACCN1, BNAC1, MDEG
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3737Cytoplasmic By similarity
Add
BLAST
Transmembranei38 – 5821Helical; Reviewed prediction
Add
BLAST
Topological domaini59 – 427369Extracellular By similarity
Add
BLAST
Transmembranei428 – 44821Helical; Reviewed prediction
Add
BLAST
Topological domaini449 – 51264Cytoplasmic By similarity
Add
BLAST

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
Complete GO annotation...

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 2
PRO_0000181290Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi92 ↔ 193 By similarity
Disulfide bondi171 ↔ 178 By similarity
Disulfide bondi289 ↔ 364 By similarity
Disulfide bondi307 ↔ 360 By similarity
Disulfide bondi311 ↔ 358 By similarity
Disulfide bondi320 ↔ 342 By similarity
Disulfide bondi322 ↔ 334 By 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 ASIC3.2 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.

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.

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

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.
VSP_015590Add
BLAST
Alternative sequencei185 – 1851T → MSRIGGAGLPAAALTGPGRF RMAREEPAPAALAAAGQPGG GRGGERALQGPGVARRGRPS LSRAKLHGLRHMCAGRTAAG GSFQRRALWVLAFCTSFGLL LSWSSNRLLYWLSFPSHTRV HREWSRQLPFPAVTVCNNNP LRFPRLSKGDLYYAGHWLGL LLPNRTARPLVSELLRGDEP RRQWFRKLADFRLFLPPRHF EGISAAFMDRLGHQLEDMLL SCKYRGELCGPHNFSS in isoform 2.
VSP_015591

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti495 – 4951T → A in AAC50432. 1 Publication
Isoform 2 (identifier: Q16515-2)
Sequence conflicti67 – 671H → R in CAD38879. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 136 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+.

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

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