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Aliases for ASIC2 Gene

Aliases for ASIC2 Gene

  • Acid Sensing Ion Channel Subunit 2 2 3 5
  • Amiloride-Sensitive Cation Channel 1, Neuronal 2 3 4
  • Acid-Sensing (Proton-Gated) Ion Channel 2 2 3
  • Mammalian Degenerin Homolog 3 4
  • Brain Sodium Channel 1 3 4
  • ACCN1 3 4
  • BNaC1 3 4
  • ACCN 3 4
  • BNC1 3 4
  • MDEG 3 4
  • Neuronal Amiloride-Sensitive Cation Channel 1 3
  • Amiloride-Sensitive Cation Channel Neuronal 1 4
  • Acid Sensing (Proton Gated) Ion Channel 2 3
  • Amiloride-Sensitive Brain Sodium Channel 4
  • Acid Sensing Ion Channel 2 3
  • Degenerin 2
  • ASIC2a 3
  • HBNaC1 3

External Ids for ASIC2 Gene

Previous HGNC Symbols for ASIC2 Gene

  • ACCN
  • ACCN1

Previous GeneCards Identifiers for ASIC2 Gene

  • GC17M031341

Summaries for ASIC2 Gene

Entrez Gene Summary for ASIC2 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, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]

GeneCards Summary for ASIC2 Gene

ASIC2 (Acid Sensing Ion Channel Subunit 2) is a Protein Coding gene. Diseases associated with ASIC2 include Frozen Shoulder and Chromosome 17Q11.2 Deletion Syndrome, 1.4Mb. Among its related pathways are Ion channel transport and Development Endothelin-1/EDNRA signaling. GO annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCNN1G.

UniProtKB/Swiss-Prot for ASIC2 Gene

  • Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate.

Tocris Summary for ASIC2 Gene

Gene Wiki entry for ASIC2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASIC2 Gene

Genomics for ASIC2 Gene

Regulatory Elements for ASIC2 Gene

Enhancers for ASIC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ASIC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASIC2 Gene

Chromosome:
17
Start:
33,013,087 bp from pter
End:
34,174,964 bp from pter
Size:
1,161,878 bases
Orientation:
Minus strand

Genomic View for ASIC2 Gene

Genes around ASIC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASIC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASIC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASIC2 Gene

Proteins for ASIC2 Gene

  • Protein details for ASIC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16515-ASIC2_HUMAN
    Recommended name:
    Acid-sensing ion channel 2
    Protein Accession:
    Q16515
    Secondary Accessions:
    • E9PBX2
    • Q13553
    • Q6DJU1
    • Q8N3E2

    Protein attributes for ASIC2 Gene

    Size:
    512 amino acids
    Molecular mass:
    57709 Da
    Quaternary structure:
    • Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM; this regulates channel activity (By similarity). Interacts with PRKCABP and ASIC3.
    Miscellaneous:
    • Inhibited by anti-inflammatory drugs like salicylic acid (By similarity). Regulated by Zn(2+).

    Alternative splice isoforms for ASIC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASIC2 Gene

Proteomics data for ASIC2 Gene at MOPED

Post-translational modifications for ASIC2 Gene

  • Glycosylation at Asn 365 and Asn 392
  • Modification sites at PhosphoSitePlus

Other Protein References for ASIC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ASIC2

No data available for DME Specific Peptides for ASIC2 Gene

Domains & Families for ASIC2 Gene

Gene Families for ASIC2 Gene

Protein Domains for ASIC2 Gene

Suggested Antigen Peptide Sequences for ASIC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16515

UniProtKB/Swiss-Prot:

ASIC2_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC2 subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC2 subfamily.
genes like me logo Genes that share domains with ASIC2: view

Function for ASIC2 Gene

Molecular function for ASIC2 Gene

UniProtKB/Swiss-Prot Function:
Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate.
genes like me logo Genes that share phenotypes with ASIC2: view

Animal Models for ASIC2 Gene

MGI Knock Outs for ASIC2:

Animal Model Products

miRNA for ASIC2 Gene

miRTarBase miRNAs that target ASIC2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASIC2 Gene

Localization for ASIC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASIC2 Gene

Cell membrane; Multi-pass membrane protein. Note=Localized at the plasma membrane of neurons, in the soma and punctated peripheral processes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASIC2 Gene COMPARTMENTS Subcellular localization image for ASIC2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
cytosol 2
extracellular 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ASIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with ASIC2: view

Pathways & Interactions for ASIC2 Gene

genes like me logo Genes that share pathways with ASIC2: view

Pathways by source for ASIC2 Gene

Gene Ontology (GO) - Biological Process for ASIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006812 cation transport IEA --
GO:0007268 synaptic transmission TAS 8626462
GO:0007417 central nervous system development TAS 8626462
GO:0007422 peripheral nervous system development TAS 8626462
GO:0007602 phototransduction IEA --
genes like me logo Genes that share ontologies with ASIC2: view

No data available for SIGNOR curated interactions for ASIC2 Gene

Drugs & Compounds for ASIC2 Gene

(10) Drugs for ASIC2 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker, Target, inhibitor 47
Lithium Approved Pharma 0
Cd<sup>2+</sup> Pharma Channel blocker 0
Nafamostat Pharma Channel blocker 4
A-317567 Pharma 0

(7) Additional Compounds for ASIC2 Gene - From: Novoseek, IUPHAR, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
A317567
Channel blocker
H<sup>+</sup> (extracellular)
Activator
Amiloride hydrochloride
2016-88-8
Neuropeptide SF (mouse, rat)
230960-31-3

(4) Tocris Compounds for ASIC2 Gene

Compound Action Cas Number
Amiloride hydrochloride Na+ channel blocker; also I2 imidazoline ligand 2016-88-8
APETx2 ASIC3 channel blocker 713544-47-9
Neuropeptide SF (mouse, rat) NPFF1 and NPFF2 agonist 230960-31-3
Psalmotoxin 1 Potent and selective ASIC1a channel blocker
genes like me logo Genes that share compounds with ASIC2: view

Transcripts for ASIC2 Gene

Unigene Clusters for ASIC2 Gene

Acid-sensing (proton-gated) ion channel 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASIC2 Gene

No ASD Table

Relevant External Links for ASIC2 Gene

GeneLoc Exon Structure for
ASIC2
ECgene alternative splicing isoforms for
ASIC2

Expression for ASIC2 Gene

mRNA expression in normal human tissues for ASIC2 Gene

mRNA differential expression in normal tissues according to GTEx for ASIC2 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.3), Brain - Frontal Cortex (BA9) (x5.1), Brain - Hypothalamus (x4.8), Brain - Amygdala (x4.7), Brain - Cortex (x4.4), and Brain - Hippocampus (x4.1).

Protein differential expression in normal tissues from HIPED for ASIC2 Gene

This gene is overexpressed in Heart (48.8) and Retina (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASIC2 Gene



SOURCE GeneReport for Unigene cluster for ASIC2 Gene Hs.368417

mRNA Expression by UniProt/SwissProt for ASIC2 Gene

Q16515-ASIC2_HUMAN
Tissue specificity: Brain and spinal cord. Isoform 1 is also detected in testis, liver, colon and ovary.
genes like me logo Genes that share expression patterns with ASIC2: view

Protein tissue co-expression partners for ASIC2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ASIC2 Gene

Orthologs for ASIC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASIC2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ASIC2 35
  • 95.62 (n)
  • 98.58 (a)
ASIC2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asic2 35
  • 92.78 (n)
  • 97.16 (a)
Asic2 16
Asic2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asic2 35
  • 92.72 (n)
  • 96.8 (a)
cow
(Bos Taurus)
Mammalia ACCN1 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASIC2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 67 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia ASIC2 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASIC2 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASIC2 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14786 35
zebrafish
(Danio rerio)
Actinopterygii asic2 36
  • 70 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.156 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
Species with no ortholog for ASIC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 ASIC2 Gene

ENSEMBL:
Gene Tree for ASIC2 (if available)
TreeFam:
Gene Tree for ASIC2 (if available)

Paralogs for ASIC2 Gene

Paralogs for ASIC2 Gene

(4) SIMAP similar genes for ASIC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASIC2: view

Variants for ASIC2 Gene

Sequence variations from dbSNP and Humsavar for ASIC2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs16967895 - 33,023,996(+) TGCTG(C/T)CCTTT reference, missense
rs2142 -- 33,853,118(+) CCACA(C/T)ACAAA intron-variant
rs2275 -- 33,208,483(+) GCTGG(A/C)ACTTT intron-variant
rs2278 -- 33,208,510(+) CCCTC(A/T)GAGCT intron-variant
rs16551 -- 33,058,240(-) TCGGT(C/T)TACCA intron-variant

Variation tolerance for ASIC2 Gene

Residual Variation Intolerance Score: 5.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.55; 82.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASIC2 Gene

Human Gene Mutation Database (HGMD)
ASIC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ASIC2 Gene

Disorders for ASIC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASIC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
frozen shoulder
  • adhesions-capsulitis,shoulder
chromosome 17q11.2 deletion syndrome, 1.4mb
  • 17q11 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ASIC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASIC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASIC2
genes like me logo Genes that share disorders with ASIC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASIC2 Gene

Publications for ASIC2 Gene

  1. Surface expression of ASIC2 inhibits the amiloride-sensitive current and migration of glioma cells. (PMID: 16704974) Vila-Carriles W.H. … Benos D.J. (J. Biol. Chem. 2006) 3 23 25 26
  2. BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels. (PMID: 9037075) Garcia-Anoveros J. … Corey D.P. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23 67
  3. Acid-sensing ion channels in malignant gliomas. (PMID: 12584187) Berdiev B.K. … Benos D.J. (J. Biol. Chem. 2003) 23 25 26
  4. Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia. (PMID: 17534430) Bernardinelli L. … Berzuini C. (PLoS ONE 2007) 3 23
  5. Analysis of the membrane topology of the acid-sensing ion channel 2a. (PMID: 15504740) Saugstad J.A. … Evans R.J. (J. Biol. Chem. 2004) 3 23

Products for ASIC2 Gene

Sources for ASIC2 Gene

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