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GIFtS

ASIC4 Gene

protein-coding   GIFtS: 48
GCID: GC02P220378

acid-sensing (proton-gated) ion channel family member 4

(Previous names: amiloride-sensitive cation channel 4, pituitary, amiloride-sensitive...)
(Previous symbol: ACCN4)
 Explore 1 disease affiliated with
ASIC4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ASIC4    

Aliases
for ASIC4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Acid-Sensing (Proton-Gated) Ion Channel Family Member 41 2     Amiloride-Sensitive Cation Channel Family Member 4, Pituitary1 2
ACCN41 2 3 5     Acid-Sensing Ion Channel 42
Amiloride-Sensitive Cation Channel 4, Pituitary1 2 3     Brain Sodium Channel 42
BNAC41 2 5     Amiloride-Sensitive Cation Channel 43

External Ids:    HGNC: 212631   Entrez Gene: 555152   Ensembl: ENSG000000721827   OMIM: 6067155   UniProtKB: Q96FT73   

Export aliases for ASIC4 gene to outside databases

Previous GC identifers: GC02P218401 GC02P219100


Summaries
for ASIC4 gene

(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 ASIC4:
This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium
channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception.
This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic
choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC.
(provided by RefSeq, Feb 2012)

UniProtKB/Swiss-Prot: ASIC4_HUMAN, Q96FT7
Function: Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity

Gene Wiki entry for ASIC4 (ACCN4)


Genomic Views
for ASIC4 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ASIC4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ASIC4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASIC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASIC4


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q36.1

ASIC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASIC4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P220378:  view genomic region     (about GC identifiers)

Start:
 220,378,892 bp from pter      End:
 220,403,494 bp from pter
Size:
 24,603 bases      Orientation:
 plus strand

Proteins
for ASIC4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ASIC4_HUMAN, Q96FT7 (See protein sequence)
Recommended Name: Acid-sensing ion channel 4  
Size: 647 amino acids; 70105 Da
Subunit: Homotrimer or heterotrimer with other ASIC proteins (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (By similarity)
Sequence caution: Sequence=CAB93980.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAC51338.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q53SB7 Q6GMS1 Q6PIN9 Q9NQA4
Alternative splicing: 3 isoforms:  Q96FT7-1   Q96FT7-2   Q96FT7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASIC4: NX_Q96FT7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96FT7

    • ASIC4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_878267.2  
    ENSEMBL proteins: 
     ENSP00000326627   ENSP00000350786  

    Human Recombinant Protein Products: 
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    Novus Biologicals ASIC4 Lysates
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    Uscn Proteins for ASIC4

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane TAS10852210


    ASIC4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ASIC4

    Protein Domains /
    Families
    for ASIC4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ASIC4 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR020903 Na+channel_ASC_CS
     IPR001873 Na+channel_ASC

    Graphical View of Domain Structure for InterPro Entry Q96FT7

    ProtoNet protein and cluster: Q96FT7

    1 Blocks protein family: IPB001873 Na+ channel

    UniProtKB/Swiss-Prot: ASIC4_HUMAN, Q96FT7
    Similarity: Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC4 subfamily


    Function
    for ASIC4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ASIC4_HUMAN, Q96FT7
    Function: Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity

    miRNA
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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity TAS10852210
    GO:0005272sodium channel activity IEA--
    GO:0015081sodium ion transmembrane transporter activity TAS10852210


    ASIC4 for ontologies           About GeneDecksing



    Pathways & Interactions
    for ASIC4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASIC4

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS10852210
    GO:0035725sodium ion transmembrane transport TAS10852210
    GO:0071436sodium ion export ----


    ASIC4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ASIC4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASIC4
    Search CenterWatch for drugs/clinical trials and news about ASIC4 

    Transcripts
    for ASIC4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ASIC4 gene (2 alternative transcripts): 
    NM_182847.2  NM_018674.4  

    Unigene Cluster for ASIC4:

    Acid-sensing (proton-gated) ion channel family member 4
    Hs.87469  [show with all ESTs]
    Unigene Representative Sequence: AJ271643
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461395(uc010fwi.2 uc010fwj.2 uc002vly.2) ENST00000347842(uc002vma.3)
    ENST00000358078(uc002vlz.3) ENST00000474489(uc002vmb.3) ENST00000473709


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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASIC4
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    Additional cDNA sequence: 

    AJ271643.1 AK308804.1 AK309373.1 BC010439.1 BC031812.1 

    5 DOTS entries:

    DT.92068418  DT.95123878  DT.95159189  DT.95364662  DT.100709999 

    24/25 AceView cDNA sequences (see all 25):

    NM_018674 NM_182847 BC010439 BG912088 AA235984 BP362381 BF529874 BG911389 
    BG912216 BG818664 BC031812 BG913360 BC073912 BG913294 BG910298 AA235790 
    BX345391 BI755609 BG818353 BQ013503 BF530791 BF529485 BG913866 BX350976 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ASIC4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
    SP1:              -                       -     -     -                                       
    SP2:                                      -           -                                       
    SP3:                                      -                                                   
    SP4:              -                                                                           


    ECgene alternative splicing isoforms for ASIC4

    Expression
    for ASIC4 gene

    (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

    ASIC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCCCTCACG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ASIC4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FollicleGranulosa CellsOvary
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainHypothalamusBrain
    BrainThalamusBrain
    Neural TubeDiencephalic Roof PlateNeural Tube
    Neural TubeDiencephalonNeural Tube
    Neural TubeMesencephalic Roof PlateNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordSpinal Dorsal ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ASIC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASIC4

    SOURCE GeneReport for Unigene cluster: Hs.87469

    UniProtKB/Swiss-Prot: ASIC4_HUMAN, Q96FT7
    Tissue specificity: Expressed in pituitary gland. Weakly expressed in brain, vestibular system and organ of Corti

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    Orthologs
    for ASIC4 gene

    (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 animals.

    Orthologs for ASIC4 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ACCN41 amiloride-sensitive cation channel 4, pituitary 74.36(n)
    74.51(a)    		   769191  XM_001232416.2  XP_001232417.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ACCN46
    		 --
    		 63(a)
    		 1 ↔ 1
    		 1(94786341-94905081)
    zebrafish
    (Danio rerio)    		 Actinopterygii asic4a1 acid-sensing (proton-gated) ion channel family member more 65.76(n)
    64.47(a)    		   407668  NM_214787.1  NP_999952.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea unc-1053 Amiloride-sensitive sodium channel 30(a)   II(8117189-8122268)   --


    ENSEMBL Gene Tree for ASIC4 (if available)
    TreeFam Gene Tree for ASIC4 (if available) 

    Paralogs
    for ASIC4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASIC4 gene
    SCNN1B2  ASIC32  SCNN1G2  SCNN1A2  SCNN1D2  ASIC22  ASIC52  ASIC12  
    3 SIMAP similar genes for ASIC4 using alignment to 1 protein entry:     ASIC4_HUMAN:
    ASIC1    ASIC2    ASIC3

    ASIC4 for paralogs           About GeneDecksing



    Genomic Variants
    for ASIC4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/529 NCBI SNPs in ASIC4 are shown (see all 529)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1133164661,2
    		C--212256704(+) CACAAC/G/TTCCAC 4 -- ut311CSA 1
    rs784466821,2
    		--220377051(+) GATCTC/TAATAG 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs621915731,2
    		C,F,--220377102(+) GCAACG/AAGTGC 1 -- us2k13Minor allele frequency- A:0.09NA WA 124
    rs1447953601,2
    		--220377134(+) TTTCCC/TGCTTT 1 -- us2k10--------
    rs730872471,2
    		C,--220377178(+) AAGCAA/GTTAAA 1 -- us2k12Minor allele frequency- G:0.02WA 120
    rs2003223391,2
    		--220377192(+) CTTTT-/AAAAAA 1 -- us2k10--------
    rs1883464001,2
    		--220377262(+) ACAGTC/GGGGGG 1 -- us2k10--------
    rs1501962521,2
    		C,--220377337(+) GGGAC-/AGAGAGA 1 -- us2k10--------
    rs1400429831,2
    		--220377425(+) TCTGGA/GACACT 1 -- us2k10--------
    rs1156394231,2
    		--220377600(+) CATGGT/ACAGGG 1 -- us2k11Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for ASIC4 (220378892 - 220403494 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASIC4: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASIC4
    DNA2.0 Custom Variant and Variant Library Synthesis for ASIC4

    Disorders / Diseases
    for ASIC4 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ASIC4 for disorders           About GeneDecksing

    OMIM gene information: 606715    OMIM disorders: --

    1 disease for ASIC4:    About MalaCards
    choreoathetosis


    Export disorders for ASIC4 gene to outside databases

    Publications
    for ASIC4 gene

    (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 ASIC4 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ASIC4)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A new member of acid-sensing ion channels from pituitary gland. (PubMed id 10852210)1, 2, 3 Gruender S.... Ruppersberg J.P. (2000)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia. (PubMed id 11571555)1, 2 Gruender S.... Fink J.K. (2001)
    5. Regulation of ASIC activity by ASIC4--new insights into ASIC channel function revealed by a yeast two-hybrid assay. (PubMed id 18662336)1 Donier E....Wood J.N. (2008)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Toward a complete human genome sequence. (PubMed id 9847074)1 Wilson R. (1998)
    9. A new member of the acid-sensing ion channel family. (PubMed id 10923674)9 Akopian A.N....Wood J.N. (2000)

    External Searches for ASIC4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing ASIC4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55515 HGNC: 21263 AceView: ACCN4 Ensembl:ENSG00000072182 euGenes: HUgn55515
    ECgene: ASIC4 H-InvDB: ASIC4

    Other Databases showing ASIC4 gene

    (According to HUGE)
    About This Section
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    Specialized Databases showing ASIC4 gene

    (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 ASIC4 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ASIC4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ASIC4 gene:
    Search GeneIP for patents involving ASIC4

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     ASIC4 Proteins, Antibodies, CLIAs, and ELISAs
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