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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASIC3 Gene

protein-coding   GIFtS: 52
GCID: GC07P150746

Acid-Sensing (Proton-Gated) Ion Channel 3

(Previous names: amiloride-sensitive cation channel 3, testis, amiloride-sensitive...)
(Previous symbol: ACCN3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Acid-Sensing (Proton-Gated) Ion Channel 31 2     TNAC13 5
ACCN31 2 3 5     TNaC12
Testis Sodium Channel 11 2 3     Acid-Sensing Ion Channel 32
Amiloride-Sensitive Cation Channel 3, Testis1 2     Modulatory Subunit Of ASIC2a2
Amiloride-Sensitive Cation Channel 31 3     Proton-Gated Cation Channel Subunit2
Neuronal Amiloride-Sensitive Cation Channel 32 3     hASIC33
SLNAC12 3     hTNaC13
DRASIC2 5     

External Ids:    HGNC: 1011   Entrez Gene: 93112   Ensembl: ENSG000002131997   OMIM: 6117415   UniProtKB: Q9UHC33   

Export aliases for ASIC3 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASIC3 Gene:
This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this
family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic
transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing.
The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH
changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2
has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants
have been described. (provided by RefSeq, Feb 2012)

GeneCards Summary for ASIC3 Gene: 
ASIC3 (acid-sensing (proton-gated) ion channel 3) is a protein-coding gene. Diseases associated with ASIC3 include neuronitis, and purpura, and among its related super-pathways are Stimuli-sensing channels and SLC-mediated transmembrane transport. GO annotations related to this gene include sodium channel activity and PDZ domain binding. An important paralog of this gene is SCNN1D.

UniProtKB/Swiss-Prot: ASIC3_HUMAN, Q9UHC3
Function: Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by
the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In
sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed
tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems
to modulate channel properties

Gene Wiki entry for ASIC3 (ACCN3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007914.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ASIC3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASIC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASIC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASIC3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q35   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q35

ASIC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASIC3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P150746:  view genomic region     (about GC identifiers)

Start:
150,745,379 bp from pter      End:
150,749,843 bp from pter
Size:
4,465 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 150,075,144-150,079,382     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ASIC3_HUMAN, Q9UHC3 (See protein sequence)
Recommended Name: Acid-sensing ion channel 3  
Size: 531 amino acids; 58905 Da
Subunit: Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM and DLG4 (By
similarity). Interacts with LIN7B, MAGI1/BAIAP1, GOPC and ASIC2
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity). Cytoplasm (By similarity).
Note=Cell surface expression may be stabilized by interaction with LIN7B and cytoplasmic retention by interaction
with DLG4. In part cytoplasmic in cochlea cells (By similarity)
Developmental stage: Expressed in fetal tissues, expression increases in lung and kidney adult tissues
Miscellaneous: Potentiated by FMRFamide-related neuropeptides. Sensitized and potentiated by NPSF. Regulated by
lactate and Ca(2+). Inhibited by anti-inflammatory drugs, like salicylic acid (By similarity). Sensitized and
potentiated by NPFF
Sequence caution: Sequence=BAA25897.1; Type=Frameshift; Positions=303, 305, 313; Sequence=BAD92658.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B2R9V0 O60263 O75906 Q59FN9 Q9UER8 Q9UHC4
Alternative splicing: 4 isoforms:  Q9UHC3-1   Q9UHC3-2   Q9UHC3-3   Q9UHC3-4   

Explore the universe of human proteins at neXtProt for ASIC3: NX_Q9UHC3

Explore proteomics data for ASIC3 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by PKA. Phosphorylated by PKC. In vitro, PRKCABP/PICK-1 is necessary for PKC phosphorylation and
    activation of a ASIC3/ACCN3-ASIC2/ASIC2b channel, but does not activate a homomeric ASIC3 channel (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHC3

  • ASIC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASIC3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_004760.1  NP_064717.1  NP_064718.1  

    ENSEMBL proteins: 
     ENSP00000350600   ENSP00000367136   ENSP00000344838   ENSP00000418605   ENSP00000297512  
     ENSP00000420371   ENSP00000418361  
    Reactome Protein details: Q9UHC3
    Human Recombinant Protein Products for ASIC3: 
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    Novus Biologicals ASIC3 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----

    ASIC3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ASIC: Ion channels / Acid-sensing (proton-gated) ion channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: ASIC3 
    Acid-sensing (proton-gated) ion channels (ASICs)

    3 InterPro protein domains:
     IPR020903 Na+channel_ASC_CS
     IPR001873 Na+channel_ASC
     IPR004724 EnaC

    Graphical View of Domain Structure for InterPro Entry Q9UHC3

    ProtoNet protein and cluster: Q9UHC3

    1 Blocks protein domain: IPB001873 Na+ channel

    UniProtKB/Swiss-Prot: ASIC3_HUMAN, Q9UHC3
    Domain: The PDZ domain-binding motif is involved in interaction with LIN7A, GOPC and MAGI1
    Similarity: Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC3 subfamily


    ASIC3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASIC3_HUMAN, Q9UHC3
    Function: Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by
    the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In
    sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed
    tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems
    to modulate channel properties

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005261cation channel activity TAS9744806
    GO:0005272sodium channel activity TAS9571199
    GO:0005515protein binding ----
    GO:0015280ligand-gated sodium channel activity IEA--
    GO:0030165PDZ domain binding IEA--
         
    ASIC3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ASIC3:
     Increased cell number in G1, a 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Asic3):
     behavior/neurological  cellular  hearing/vestibular/ear  homeostasis/metabolism  integument 
     nervous system  vision/eye 

    ASIC3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ASIC3: Asic3tm1Pho Asic3tm1Wsh

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASIC3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASIC3 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ASIC3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    3CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    4Sodium channels and transporters: inward current
    Sodium channels and transporters: inward current

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ASIC3
        Sodium channels and transporters- inward current


    1 GeneGo (Thomson Reuters) Pathway for ASIC3
        CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

    3        Reactome Pathways for ASIC3
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    ASIC3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASIC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/14 Interacting proteins for ASIC3 (Q9UHC33 ENSP000002975124) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASIC2Q165153, ENSP000002258234I2D: score=3 STRING: ENSP00000225823
    LIN7BQ9HAP63, ENSP000002214594I2D: score=3 STRING: ENSP00000221459
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    SLC9A3R1O147453, ENSP000002626134I2D: score=1 STRING: ENSP00000262613
    STOML1Q9UBI43, ENSP000003193234I2D: score=1 STRING: ENSP00000319323
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001101response to acid IEA--
    GO:0006810transport TAS9744806
    GO:0006812cation transport ----
    GO:0006814sodium ion transport ----
    GO:0007165signal transduction TAS9744806

    ASIC3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ASIC3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ASIC3

    10/13 IUPHAR Ligands for ASIC3 (ASIC3) (see all 13)    About this table 
    LigandTypeActionAffinityPubmed IDs
    APETx2
    Channel blockerNone7.2--
    H+ (extracellular)
    ActivatorNone6.2 - 6.7--
    nafamostat
    Channel blockerNone5.6--
    A317567
    Channel blockerNone5--
    amiloride
    Channel blockerNone4.2 - 4.8--
    Gd3+
    Channel blockerNone4.4--
    Zn2+
    Channel blockerNone4.2--
    aspirin
    Channel blockerNone4--
    diclofenac
    Channel blockerNone4--
    salicylic acid
    Channel blockerNone3.6--

    2 Novoseek inferred chemical compound relationships for ASIC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amiloride 67.3 3 19339181 (2), 19482897 (1)
    sodium 37.8 5 16915087 (2), 15317815 (1), 9571199 (1), 14522957 (1)

    Search CenterWatch for drugs/clinical trials and news about ASIC3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ASIC3 gene (3 alternative transcripts): 
    NM_004769.3  NM_020321.3  NM_020322.3  

    Unigene Cluster for ASIC3:

    Acid-sensing (proton-gated) ion channel 3
    Hs.647113  [show with all ESTs]
    Unigene Representative Sequence: NM_020321
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357922(uc003win.2 uc003wio.2 uc003wip.2) ENST00000377904(uc003wiq.2)
    ENST00000349064 ENST00000468325 ENST00000297512 ENST00000474135 ENST00000485929
    ENST00000490540 ENST00000498105
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    Additional mRNA sequence: 

    AB209421.1 AF057711.1 AF095897.1 AF195024.1 AF195025.1 AK124944.1 AK313926.1 BC030282.1 
    NR_046401.1 

    8 DOTS entries:

    DT.210692  DT.210693  DT.100795799  DT.92420207  DT.40261078  DT.95327021  DT.95368805  DT.91648554 

    24/204 AceView cDNA sequences (see all 204):

    BQ223720 BM463415 AK024401 CR599833 AK094636 CR610778 AK094005 CR592221 
    CB129709 BU527147 CA944727 BQ678344 BI769361 CR616094 BM976848 BM664643 
    BM833675 BM694370 BI490066 BU625433 CA454776 BM704396 AA825988 BM552265 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASIC3 expression in normal human tissues (normalized intensities)      ASIC3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTAGCCTGC
    ASIC3 Expression
    About this image


    ASIC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Rod Cells Outer Nuclear Layer

    See ASIC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASIC3

    SOURCE GeneReport for Unigene cluster: Hs.647113

    UniProtKB/Swiss-Prot: ASIC3_HUMAN, Q9UHC3
    Tissue specificity: Expressed by sensory neurons. Strongly expressed in brain, spinal chord, lung, lymph nodes,
    kidney, pituitary, heart and testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASIC3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ASIC3 gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asic35
    Accn31
    amiloride-sensitive cation channel 31, 5 81.41(n)1
    83.74(a)1
      5 (11.72 cM)5
    1712091  NM_183000.21  NP_892045.21 
     244134515 
    zebrafish
    (Danio rerio)
    Actinopterygii asic1b6
    acid-sensing (proton-gated) ion channel 1b
    44(a)
    1 ↔ 1
    22(6991902-7206812)


    ENSEMBL Gene Tree for ASIC3 (if available)
    TreeFam Gene Tree for ASIC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASIC3 gene
    SCNN1D2  SCNN1B2  SCNN1G2  SCNN1A2  ASIC52  ASIC22  ASIC42  ASIC12  
    3 SIMAP similar genes for ASIC3 using alignment to 3 protein entries:     ASIC3_HUMAN (see all proteins):
    ASIC2    ASIC1    ASIC4

    ASIC3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/212 SNPs in ASIC3 are shown (see all 212)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1480674611,2
    --150745474(+) ACTGCA/GGTTTC 4 -- ut51 nc-transcript-variant0--------
    rs1417782401,2
    --150745579(+) CTGCTC/GTGTCG 4 -- ut51 nc-transcript-variant0--------
    rs1381153291,2
    --150745790(+) CCAGAA/TCACCT 4 -- ut51 nc-transcript-variant0--------
    rs1907139871,2
    --150745824(+) CCTCCC/GTGCCT 4 -- ut51 nc-transcript-variant0--------
    rs2020756251,2
    --150745925(+) CTCTCC/TCGCTT 4 -- ut51 nc-transcript-variant0--------
    rs2009770051,2
    --150745926(+) TCTCTC/TGCTTC 4 -- ut51 nc-transcript-variant0--------
    rs1500918121,2
    C,F--150745956(+) GTTCCG/ACTCCT 4 -- ut51 nc-transcript-variant1Minor allele frequency- A:0.03EU 651
    rs1434276201,2
    C--150745974(+) GGCCAT/CGAAGC 7 /T /M mis11Minor allele frequency- C:0.00NA 2474
    rs2003916061,2
    --150745997(+) CAGAGA/GAGGCC 7 K E mis10--------
    rs1143146981,2
    C--150746004(+) GGCCCG/AGCGGC 7 /Q /R mis11Minor allele frequency- A:0.01NA 210

    HapMap Linkage Disequilibrium report for ASIC3 (150745379 - 150749843 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ASIC3: --
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ASIC3
    DNA2.0 Custom Variant and Variant Library Synthesis for ASIC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611741    OMIM disorders: --

    8 diseases for ASIC3:    About MalaCards
    neuronitis    purpura    allergic rhinitis    cystic fibrosis
    rhinitis    insulin resistance    ischemia    arthritis


    ASIC3 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ASIC3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acidosis 62.3 2 16915087 (1), 14522957 (1)
    hyperalgesia 36 2 14522957 (1)


    Export disorders for ASIC3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASIC3 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with ASIC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification, functional expression and chromosomal localisation of a sustained human proton-gated cation channel. (PubMed id 9744806)1, 2, 3, 9 de Weille J.R.... Waldmann R. (1998)
    2. Molecular cloning of a DEG/ENaC sodium channel cDNA from human testis. (PubMed id 9571199)1, 2, 3, 9 Ishibashi K. and Marumo F. (1998)
    3. PSD-95 and Lin-7b interact with acid-sensing ion channel-3 and have opposite effects on H+- gated current. (PubMed id 15317815)1, 2, 9 Hruska-Hageman A.M....Welsh M.J. (2004)
    4. Molecular cloning and regional distribution of a human proton receptor subunit with biphasic functional properties. (PubMed id 9886053)1, 2, 9 Babinski K.... Seguela P. (1999)
    5. cAMP-dependent protein kinase phosphorylation of the acid-sensing ion channel-1 regulates its binding to the protein interacting with C- kinase-1. (PubMed id 12578970)1, 2 Leonard A.S.... Welsh M.J. (2003)
    6. Selective modulation of heteromeric ASIC proton-gated channels by neuropeptide FF. (PubMed id 11587714)1, 2 Catarsi S.... Seguela P. (2001)
    7. Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric proton-gated channels sensitive to Gd3+. (PubMed id 10842183)1, 2 Babinski K.... Seguela P. (2000)
    8. Interregulation of proton-gated Na(+) channel 3 and cystic fibrosis transmembrane conductance regulator. (PubMed id 17012229)1, 9 Su X....Ji H.L. (2006)
    9. Genetic variation in the ASIC3 gene influences blood pressure levels in Taiwanese. (PubMed id 18854755)1, 9 Ko Y.L....Cheng C.F. (2008)
    10. Expression of acid-sensing ion channels of gastric muc osa from patients with Henoch-Schonlein purpura. (PubMed id 22157923)1 Yuan L.P....Zhou Q.L. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9311 HGNC: 101 AceView: ACCN3andABCB8 Ensembl:ENSG00000213199 euGenes: HUgn9311
    ECgene: ASIC3 H-InvDB: ASIC3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASIC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ASIC3 gene:
    Search GeneIP for patents involving ASIC3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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