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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 Development Endothelin-1/EDNRA signaling and Ion channel transport. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ASIC4 Gene

Promoters and enhancers for ASIC4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I219514 Promoter/Enhancer 1.5 EPDnew ENCODE 550.8 +0.3 272 0.2 PKNOX1 ATF1 ARNT TCF12 GATA2 ATF7 NCOA1 REST ZNF592 MEF2D ASIC4 ZFAND2B ANKZF1 ENSG00000227432 LOC105373885
GH02I219541 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.6 +30.0 30019 5.1 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CHPF TMEM198 ASIC4 OBSL1 INHA ENSG00000268896
GH02I219520 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.7 +7.9 7854 3.5 HDGF PKNOX1 ATF1 ARNT ETS1 GTF3C2 TCF12 ZNF766 GLIS2 GATA2 ASIC4 TMEM198 ENSG00000269068 LOC105373885
GH02I219438 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 15.5 -70.8 -70847 9.5 PKNOX1 ZFP64 BMI1 ZNF335 GLIS2 EGR1 EGR2 ZBTB11 ZC3H11A ZNF398 CNOT9 STK36 USP37 BCS1L ASIC4 ANKZF1 GMPPA DES ENSG00000272644 ENSG00000227432
GH02I219537 Enhancer 0.6 ENCODE 38.4 +24.4 24362 2.4 CTCF TFAP4 KLF11 MAZ SAP130 ARID4B KLF17 ZIC2 RAD21 GLIS2 ASIC4 ENSG00000227432 GMPPA SPEG OBSL1 CHPF TMEM198 LOC105373885
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASIC4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ASIC4 Gene

Genomic Locations for ASIC4 Gene
chr2:219,514,170-219,538,772
(GRCh38/hg38)
Size:
24,603 bases
Orientation:
Plus strand
chr2:220,378,892-220,403,494
(GRCh37/hg19)

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 Asn484
  • 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.

Phenotypes From GWAS Catalog for ASIC4 Gene

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

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASIC4 Gene

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.ENSP00000249647%0d%0a9606.ENSP00000215730%0d%0a9606.ENSP00000355721%0d%0a
Selected Interacting proteins: Q96FT7-ASIC4_HUMAN ENSP00000326627 for ASIC4 Gene via IID STRING

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 and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
APETx2 Pharma Channel blocker 0
P-552 Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(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

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 33
  • 99.33 (n)
ASIC4 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASIC4 33 34
  • 91.65 (n)
cow
(Bos Taurus)
Mammalia ASIC4 33 34
  • 91.61 (n)
rat
(Rattus norvegicus)
Mammalia Asic4 33
  • 91.54 (n)
mouse
(Mus musculus)
Mammalia Asic4 33 16 34
  • 91.15 (n)
oppossum
(Monodelphis domestica)
Mammalia ASIC4 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASIC4 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASIC4 33 34
  • 68.61 (n)
lizard
(Anolis carolinensis)
Reptilia ASIC4 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asic4 33
  • 65.19 (n)
zebrafish
(Danio rerio)
Actinopterygii asic4a 33 34
  • 65.89 (n)
asic4b 34
  • 57 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-105 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
ManyToMany
-- 34
  • 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 Variation AA Info Type
rs1000076930 -- 219,519,223(+) G/A intron_variant
rs1000338083 -- 219,531,348(+) A/T intron_variant
rs1000365468 -- 219,524,771(+) C/T intron_variant
rs1000366696 -- 219,521,066(+) C/G intron_variant
rs1000439878 -- 219,515,879(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information for ASIC4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ASIC4 Gene

Additional Disease Information for 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) Gründer S … Ruppersberg JP (Neuroreport 2000) 2 3 4 58
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia. (PMID: 11571555) Gründer S … Fink JK (European journal of human genetics : EJHG 2001) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ASIC4 Gene

Sources for ASIC4 Gene

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