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Aliases for ASIC4 Gene

Aliases for ASIC4 Gene

  • Acid Sensing Ion Channel Subunit Family Member 4 2 3 5
  • Amiloride-Sensitive Cation Channel 4, Pituitary 2 3 4
  • Acid-Sensing (Proton-Gated) Ion Channel Family Member 4 2 3
  • Acid Sensing Ion Channel Family Member 4 2 3
  • ACCN4 3 4
  • Amiloride-Sensitive Cation Channel Family Member 4, Pituitary 3
  • Amiloride-Sensitive Cation Channel 4 4
  • Acid-Sensing Ion Channel 4 3
  • Brain Sodium Channel 4 3
  • BNAC4 3

External Ids for ASIC4 Gene

Previous HGNC Symbols for ASIC4 Gene

  • ACCN4

Previous GeneCards Identifiers for ASIC4 Gene

  • GC02P218401
  • GC02P219100
  • GC02P220378

Summaries for ASIC4 Gene

Entrez Gene Summary for ASIC4 Gene

  • 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]

GeneCards Summary for ASIC4 Gene

ASIC4 (Acid Sensing Ion Channel Subunit Family Member 4) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include ion channel activity and sodium ion transmembrane transporter activity. An important paralog of this gene is ASIC1.

UniProtKB/Swiss-Prot for ASIC4 Gene

  • Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity.

Tocris Summary for ASIC4 Gene

  • Acid-sensing ion channels (ASIC) are members of the ENaC/Deg (epithelial amiloride-sensitive Na+ channel and degenerin) family of ion channels and are widely expressed in neurons of the central and peripheral nervous system.

Gene Wiki entry for ASIC4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASIC4 Gene

Genomics for ASIC4 Gene

Regulatory Elements for ASIC4 Gene

Enhancers for ASIC4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G219520 1.8 FANTOM5 Ensembl ENCODE dbSUPER 27.7 +7.9 7855 3.5 HDGF PKNOX1 ATF1 ARNT ETS1 TCF12 GTF3C2 ZNF766 GLIS2 ELK1 ASIC4 CNOT9 NHEJ1 USP37 SLC23A3 BCS1L ANKZF1 ENSG00000272644 LOC105373885 TMEM198
GH02G219537 0.8 ENCODE 38.4 +24.4 24362 2.4 CTCF TFAP4 SAP130 AGO1 ARID4B KLF17 RAD21 ZIC2 GLIS2 POLR2A ASIC4 ENSG00000227432 GMPPA SPEG OBSL1 TMEM198 LOC105373885
GH02G219541 1.2 ENCODE 21.6 +30.0 30020 5.1 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ASIC4 OBSL1 INHA RETREG2 ENSG00000268896 CHPF
GH02G219438 1.4 Ensembl ENCODE dbSUPER 15.5 -70.8 -70847 9.5 PKNOX1 ZFP64 BMI1 RAD21 ZNF335 GLIS2 EGR1 EGR2 ZNF263 ZNF426 USP37 ASIC4 GMPPA DES STK36 ENSG00000227432 CDK5R2 TMEM198 PTPRN SPEG
GH02G219450 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -61.5 -61486 4.5 SIN3A KLF17 FOS EGR2 ZNF398 ZNF592 GLIS1 SP7 MGA JUN GMPPA ENSG00000227432 ASIC4 DES PTPRN SPEG LOC100996693
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASIC4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASIC4 Gene

Chromosome:
2
Start:
219,514,170 bp from pter
End:
219,538,772 bp from pter
Size:
24,603 bases
Orientation:
Plus strand

Genomic View for ASIC4 Gene

Genes around ASIC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASIC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASIC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASIC4 Gene

Proteins for ASIC4 Gene

  • Protein details for ASIC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FT7-ASIC4_HUMAN
    Recommended name:
    Acid-sensing ion channel 4
    Protein Accession:
    Q96FT7
    Secondary Accessions:
    • Q53SB7
    • Q6GMS1
    • Q6PIN9
    • Q9NQA4

    Protein attributes for ASIC4 Gene

    Size:
    647 amino acids
    Molecular mass:
    70105 Da
    Quaternary structure:
    • Homotrimer or heterotrimer with other ASIC proteins.
    SequenceCaution:
    • Sequence=CAB93980.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC51338.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ASIC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASIC4 Gene

Post-translational modifications for ASIC4 Gene

  • Glycosylation at posLast=318318, Asn370, and posLast=484484
  • Modification sites at PhosphoSitePlus

Other Protein References for ASIC4 Gene

No data available for DME Specific Peptides for ASIC4 Gene

Domains & Families for ASIC4 Gene

Gene Families for ASIC4 Gene

Protein Domains for ASIC4 Gene

Suggested Antigen Peptide Sequences for ASIC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96FT7

UniProtKB/Swiss-Prot:

ASIC4_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC4 subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC4 subfamily.
genes like me logo Genes that share domains with ASIC4: view

Function for ASIC4 Gene

Molecular function for ASIC4 Gene

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

Gene Ontology (GO) - Molecular Function for ASIC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity TAS 10852210
GO:0005272 sodium channel activity IEA --
GO:0015081 sodium ion transmembrane transporter activity TAS 10852210
genes like me logo Genes that share ontologies with ASIC4: view
genes like me logo Genes that share phenotypes with ASIC4: view

Animal Models for ASIC4 Gene

MGI Knock Outs for ASIC4:

Animal Model Products

  • Taconic Biosciences Mouse Models for ASIC4

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASIC4 Gene

Localization for ASIC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASIC4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASIC4 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 2
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ASIC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 10852210
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASIC4: view

Pathways & Interactions for ASIC4 Gene

genes like me logo Genes that share pathways with ASIC4: view

Pathways by source for ASIC4 Gene

Interacting Proteins for ASIC4 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000326627%0d%0a9606.ENSP00000319323%0d%0a9606.ENSP00000254976%0d%0a9606.ENSP00000215730%0d%0a9606.ENSP00000249647%0d%0a9606.ENSP00000355721%0d%0a
Selected Interacting proteins: ENSP00000326627 Q96FT7-ASIC4_HUMAN for ASIC4 Gene via STRING IID

Gene Ontology (GO) - Biological Process for ASIC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 10852210
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0035725 sodium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with ASIC4: view

No data available for SIGNOR curated interactions for ASIC4 Gene

Drugs & Compounds for ASIC4 Gene

(5) Drugs for ASIC4 Gene - From: ApexBio, DGIdb, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
APETx2 Pharma Channel blocker ASIC3 channel blocker 0
P-552 Pharma 0
GMQ hydrochloride Pharma Selective ASIC3 opener 0
Neuropeptide SF (mouse, rat) Pharma NPFF1 and NPFF2 agonist 0
Psalmotoxin 1 Pharma Channel blocker acid-sensing ion channel 1a (ASIC1a) blocker, Potent and selective ASIC1a channel blocker 0

(2) Additional Compounds for ASIC4 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Mambalgin 1
1609937-15-6

(5) Tocris Compounds for ASIC4 Gene

Compound Action Cas Number
APETx2 ASIC3 channel blocker 713544-47-9
GMQ hydrochloride Selective ASIC3 opener 5361-15-9
Mambalgin 1 Selective ASIC1a inhibitor; analgesic 1609937-15-6
Neuropeptide SF (mouse, rat) NPFF1 and NPFF2 agonist 230960-31-3
Psalmotoxin 1 Potent and selective ASIC1a channel blocker

(1) ApexBio Compounds for ASIC4 Gene

Compound Action Cas Number
APETx2 713544-47-9
genes like me logo Genes that share compounds with ASIC4: view

Drug Products

Transcripts for ASIC4 Gene

Unigene Clusters for ASIC4 Gene

Acid-sensing (proton-gated) ion channel family member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASIC4 Gene

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

Relevant External Links for ASIC4 Gene

GeneLoc Exon Structure for
ASIC4
ECgene alternative splicing isoforms for
ASIC4

Expression for ASIC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASIC4 Gene

mRNA differential expression in normal tissues according to GTEx for ASIC4 Gene

This gene is overexpressed in Pituitary (x20.2).

Protein differential expression in normal tissues from HIPED for ASIC4 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASIC4 Gene



Protein tissue co-expression partners for ASIC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASIC4 Gene:

ASIC4

SOURCE GeneReport for Unigene cluster for ASIC4 Gene:

Hs.87469

mRNA Expression by UniProt/SwissProt for ASIC4 Gene:

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

Evidence on tissue expression from TISSUES for ASIC4 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ASIC4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ASIC4 Gene

Orthologs for ASIC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASIC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACCN4 34
  • 99.33 (n)
ASIC4 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASIC4 34 35
  • 91.65 (n)
cow
(Bos Taurus)
Mammalia ASIC4 34 35
  • 91.61 (n)
rat
(Rattus norvegicus)
Mammalia Asic4 34
  • 91.54 (n)
mouse
(Mus musculus)
Mammalia Asic4 34 16 35
  • 91.15 (n)
oppossum
(Monodelphis domestica)
Mammalia ASIC4 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASIC4 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASIC4 34 35
  • 68.61 (n)
lizard
(Anolis carolinensis)
Reptilia ASIC4 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asic4 34
  • 65.19 (n)
zebrafish
(Danio rerio)
Actinopterygii asic4a 34 35
  • 65.89 (n)
asic4b 35
  • 57 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-105 36
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
ManyToMany
-- 35
  • 24 (a)
ManyToMany
Species where no ortholog for ASIC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASIC4 Gene

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

Paralogs for ASIC4 Gene

Paralogs for ASIC4 Gene

(3) SIMAP similar genes for ASIC4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASIC4: view

Variants for ASIC4 Gene

Sequence variations from dbSNP and Humsavar for ASIC4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000076930 -- 219,519,223(+) GTTGT(A/G)AGGAT intron-variant
rs1000338083 -- 219,531,348(+) GCAAC(A/T)GAGCA intron-variant
rs1000365468 -- 219,524,771(+) GGTTT(C/T)GCTGT intron-variant
rs1000366696 -- 219,521,066(+) CCACA(C/G)CAGCT intron-variant
rs1000439878 -- 219,515,879(+) ACATG(C/T)CTGCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ASIC4 Gene

Variant ID Type Subtype PubMed ID
nsv10220 CNV gain 18304495
nsv508887 CNV insertion 20534489
nsv520958 CNV loss 19592680
nsv584502 CNV gain 21841781
nsv834545 CNV loss 17160897

Variation tolerance for ASIC4 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.27; 76.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASIC4 Gene

Human Gene Mutation Database (HGMD)
ASIC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASIC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASIC4 Gene

Disorders for ASIC4 Gene

Relevant External Links for ASIC4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASIC4

No disorders were found for ASIC4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASIC4 Gene

Publications for ASIC4 Gene

  1. A new member of acid-sensing ion channels from pituitary gland. (PMID: 10852210) Gruender S. … Ruppersberg J.P. (NeuroReport 2000) 2 3 4 64
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia. (PMID: 11571555) Gruender S. … Fink J.K. (Eur. J. Hum. Genet. 2001) 3 4 64
  5. Acid-sensing ion channel (ASIC) 4 predominantly localizes to an early endosome-related organelle upon heterologous expression. (PMID: 26667795) Schwartz V. … GrA1nder S. (Sci Rep 2015) 3 64

Products for ASIC4 Gene

Sources for ASIC4 Gene

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