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ASIC3 Gene(Protein Coding)

Acid Sensing Ion Channel Subunit 3

GCID:
GC07P151048
GIFtS:
44
Genes Participants
UDN Logo

Aliases for ASIC3 Gene

Aliases for ASIC3 Gene

  • Acid Sensing Ion Channel Subunit 3 2 3 5
  • Testis Sodium Channel 1 2 3 4
  • Neuronal Amiloride-Sensitive Cation Channel 3 3 4
  • Amiloride-Sensitive Cation Channel 3, Testis 2 3
  • SLNAC1 3 4
  • ACCN3 3 4
  • Acid Sensing (Proton Gated) Ion Channel 3 3
  • Acid-Sensing (Proton-Gated) Ion Channel 3 2
  • Amiloride-Sensitive Cation Channel 3 4
  • Proton-Gated Cation Channel Subunit 3
  • Modulatory Subunit Of ASIC2a 3
  • Acid-Sensing Ion Channel 3 3
  • DRASIC 3
  • HASIC3 4
  • HTNaC1 4
  • TNaC1 3
  • TNAC1 4

External Ids for ASIC3 Gene

Previous HGNC Symbols for ASIC3 Gene

  • ACCN3

Previous GeneCards Identifiers for ASIC3 Gene

  • GC07P150746

Summaries for ASIC3 Gene

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 Ion Channel Subunit 3) is a Protein Coding gene. Diseases associated with ASIC3 include Frozen Shoulder and Deafness, Autosomal Recessive 13. Among its related pathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and sodium channel activity. An important paralog of this gene is ASIC1.

UniProtKB/Swiss-Prot for ASIC3 Gene

  • 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.

Tocris Summary for ASIC3 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 ASIC3 Gene

Additional gene information for ASIC3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASIC3 Gene

Genomics for ASIC3 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ASIC3 Gene

Promoters and enhancers for ASIC3 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
GH07J151046 Enhancer 0.7 ENCODE 650.7 -1.3 -1287 1.3 NFIB SIN3A ZNF335 E2F1 ZFHX2 GATA3 GLIS2 ZBTB48 CHD2 EGR2 ASIC3 ABCB8 ENSG00000244151 ENSG00000243433
GH07J151048 Promoter 0.6 EPDnew 650.7 +0.5 517 0.1 ZNF600 ASIC3 SLC4A2
GH07J151050 Promoter 0.6 EPDnew 650.7 +0.4 415 0.1 ZNF600 ASIC3 SLC4A2
GH07J150364 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.5 -679.8 -679819 7 MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 NFYC ZC3H11A MEF2D REPIN1 ENSG00000284041 ZNF767P ENSG00000244151 NUB1 ZNF777 ATP6V0E2-AS1 ZNF862 ENSG00000273419 ASIC3
GH07J151084 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 11.5 +39.5 39496 5.9 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 AGAP3 GC07M151084 ENSG00000243433 SLC4A2 FASTK CDK5 ASIC3 SMARCD3 GBX1 ASB10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASIC3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ASIC3 Gene

Genomic Locations for ASIC3 Gene
chr7:151,048,292-151,052,756
(GRCh38/hg38)
Size:
4,465 bases
Orientation:
Plus strand
chr7:150,745,379-150,749,843
(GRCh37/hg19)

Genomic View for ASIC3 Gene

Genes around ASIC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASIC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASIC3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASIC3 Gene

Proteins for ASIC3 Gene

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  • Protein details for ASIC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHC3-ASIC3_HUMAN
    Recommended name:
    Acid-sensing ion channel 3
    Protein Accession:
    Q9UHC3
    Secondary Accessions:
    • B2R9V0
    • O60263
    • O75906
    • Q59FN9
    • Q9UER8
    • Q9UHC4

    Protein attributes for ASIC3 Gene

    Size:
    531 amino acids
    Molecular mass:
    58905 Da
    Quaternary structure:
    • Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM; this regulates channel activity. Interacts with DLG4 (By similarity). Interacts with LIN7B, MAGI1/BAIAP1, GOPC and ASIC2.
    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.
    SequenceCaution:
    • Sequence=BAA25897.1; Type=Frameshift; Positions=303, 305, 313; Evidence={ECO:0000305}; Sequence=BAD92658.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ASIC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASIC3 Gene

Post-translational modifications for ASIC3 Gene

  • 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).
  • Glycosylation at posLast=398398 and posLast=175175
  • Modification sites at PhosphoSitePlus

Other Protein References for ASIC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASIC3 Gene

Domains & Families for ASIC3 Gene

Gene Families for ASIC3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ASIC3 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ASIC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHC3

UniProtKB/Swiss-Prot:

ASIC3_HUMAN :
  • The PDZ domain-binding motif is involved in interaction with LIN7A, GOPC and MAGI1.
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC3 subfamily.
Domain:
  • The PDZ domain-binding motif is involved in interaction with LIN7A, GOPC and MAGI1.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC3 subfamily.
genes like me logo Genes that share domains with ASIC3: view

Function for ASIC3 Gene

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Molecular function for ASIC3 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ASIC3 Gene

Gene Ontology (GO) - Molecular Function for ASIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity TAS 9744806
GO:0005272 sodium channel activity IEA,TAS 9571199
GO:0015280 ligand-gated sodium channel activity IEA --
GO:0030165 PDZ domain binding IEA --
GO:0042931 enterobactin transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with ASIC3: view
genes like me logo Genes that share phenotypes with ASIC3: view

Animal Models for ASIC3 Gene

MGI Knock Outs for ASIC3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASIC3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ASIC3 Gene

Localization for ASIC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASIC3 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasm. 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). {ECO:0000250}.

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 ASIC3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASIC3: view

Pathways & Interactions for ASIC3 Gene

genes like me logo Genes that share pathways with ASIC3: view

Pathways by source for ASIC3 Gene

1 KEGG pathway for ASIC3 Gene
1 GeneGo (Thomson Reuters) pathway for ASIC3 Gene

Gene Ontology (GO) - Biological Process for ASIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007165 signal transduction TAS 9744806
GO:0007600 sensory perception TAS 9744806
genes like me logo Genes that share ontologies with ASIC3: view

No data available for SIGNOR curated interactions for ASIC3 Gene

Drugs & Compounds for ASIC3 Gene

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(16) Drugs for ASIC3 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Salicylic acid Approved, Investigational, Vet_approved Pharma Channel blocker 212
Amiloride Approved Pharma Channel blocker, blocker 55
Aspirin Approved, Vet_approved Pharma Channel blocker, inhibitor 1232
Diclofenac Approved, Vet_approved Pharma Channel blocker, Antagonist, Inhibition, Inhibitor, inhibitor 340
Nafamostat Approved, Investigational Pharma Channel blocker 4

(3) Additional Compounds for ASIC3 Gene - From: IUPHAR, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
 7440-23-5
A317567
Channel blocker
H<sup>+</sup> (extracellular)
Activator, Inhibition, Allosteric regulator, Antagonist, Gating inhibitor, Potentiation, Channel blocker

(2) ApexBio Compounds for ASIC3 Gene

Compound Action Cas Number
GMQ hydrochloride 5361-15-9
β-Pompilidotoxin Slows Na+ channel inactivation 216064-36-7
genes like me logo Genes that share compounds with ASIC3: view

Drug Products

Transcripts for ASIC3 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ASIC3 Gene

(204) Selected AceView cDNA sequences:
(9) Additional mRNA sequences :
(3) REFSEQ mRNAs :
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASIC3 Gene

Acid-sensing (proton-gated) ion channel 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASIC3

Alternative Splicing Database (ASD) splice patterns (SP) for ASIC3 Gene

No ASD Table

Relevant External Links for ASIC3 Gene

GeneLoc Exon Structure for
ASIC3
ECgene alternative splicing isoforms for
ASIC3

Expression for ASIC3 Gene

Products:

  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASIC3 Gene

mRNA expression in normal human tissues for ASIC3 Gene
mRNA expression by GTEx for ASIC3 GenemRNA expression by BioGPS for ASIC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASIC3 Gene

This gene is overexpressed in Brain - Cerebellum (x5.1) and Brain - Cerebellar Hemisphere (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of ASIC3 Gene:

ASIC3

SOURCE GeneReport for Unigene cluster for ASIC3 Gene:

Hs.647113

mRNA Expression by UniProt/SwissProt for ASIC3 Gene:

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

Evidence on tissue expression from TISSUES for ASIC3 Gene

  • Nervous system(4.6)
  • Muscle(2)
genes like me logo Genes that share expression patterns with ASIC3: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASIC3 Gene

Orthologs for ASIC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASIC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ACCN3 33
  • 99.5 (n)
ASIC3 34
  • 99 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ACCN3 34 33
  • 86.25 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ASIC3 34 33
  • 84.03 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Asic3 33
  • 81.54 (n)
mouse
(Mus musculus)
 Mammalia Asic3 16 34 33
  • 80.53 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ASIC3 34
  • 72 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ASIC3 34
  • 67 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves -- 34
  • 35 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 46 (a)
 ManyToMany
zebrafish
(Danio rerio)
 Actinopterygii asic1b 34
  • 43 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 33 (a)
 ManyToMany
-- 34
  • 27 (a)
 ManyToMany
Species where no ortholog for ASIC3 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASIC3 Gene

ENSEMBL:
Gene Tree for ASIC3 (if available)
TreeFam:
Gene Tree for ASIC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASIC3: view image

Paralogs for ASIC3 Gene

Paralogs for ASIC3 Gene

(3) SIMAP similar genes for ASIC3 Gene using alignment to 3 proteins:

  • ASIC3_HUMAN
  • H7C4W0_HUMAN
  • H7C5N6_HUMAN
genes like me logo Genes that share paralogs with ASIC3: view

Variants for ASIC3 Gene

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Sequence variations from dbSNP and Humsavar for ASIC3 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000432561 -- 151,052,691(+) C/T 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000790542 -- 151,048,333(+) C/A 5_prime_UTR_variant, non_coding_transcript_variant
rs1001062521 -- 151,053,256(+) C/T downstream_transcript_variant
rs1001389994 -- 151,047,280(+) C/A/T upstream_transcript_variant
rs1001435942 -- 151,051,373(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASIC3 Gene

Variant ID Type Subtype PubMed ID
dgv3695n106 OTHER inversion 24896259
dgv6756n100 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv524928 CNV gain 19592680
nsv526410 CNV loss 19592680
nsv831188 CNV loss 17160897
nsv951648 CNV deletion 24416366

Variation tolerance for ASIC3 Gene

Residual Variation Intolerance Score: 82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASIC3 Gene

Human Gene Mutation Database (HGMD)
ASIC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASIC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASIC3 Gene

Disorders for ASIC3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ASIC3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
frozen shoulder
  • adhesions-capsulitis,shoulder
deafness, autosomal recessive 13
  • dfnb13
hydrarthrosis
dentin sensitivity
  • sensitive dentin
- elite association - COSMIC cancer census association via MalaCards
Search ASIC3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASIC3

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ASIC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASIC3 Gene

Publications for ASIC3 Gene

  1. Molecular cloning of a DEG/ENaC sodium channel cDNA from human testis. (PMID: 9571199) Ishibashi K … Marumo F (Biochemical and biophysical research communications 1998) 2 3 4 22 58
  2. Identification, functional expression and chromosomal localisation of a sustained human proton-gated cation channel. (PMID: 9744806) de Weille JR … Waldmann R (FEBS letters 1998) 2 3 4 22 58
  3. PSD-95 and Lin-7b interact with acid-sensing ion channel-3 and have opposite effects on H+- gated current. (PMID: 15317815) Hruska-Hageman AM … Welsh MJ (The Journal of biological chemistry 2004) 3 4 22 58
  4. Molecular cloning and regional distribution of a human proton receptor subunit with biphasic functional properties. (PMID: 9886053) Babinski K … Séguéla P (Journal of neurochemistry 1999) 3 4 22 58
  5. Genetic variation in the ASIC3 gene influences blood pressure levels in Taiwanese. (PMID: 18854755) Ko YL … Cheng CF (Journal of hypertension 2008) 3 22 58

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