Aliases for ASIC2 Gene
Aliases for ASIC2 Gene
External Ids for ASIC2 Gene
- HGNC: 99
- Entrez Gene: 40
- Ensembl: ENSG00000108684
- OMIM: 601784
- UniProtKB: Q16515
Previous HGNC Symbols for ASIC2 Gene
- ACCN
- ACCN1
Previous GeneCards Identifiers for ASIC2 Gene
- GC17M031341
Summaries 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 Hydrarthrosis. 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 voltage-gated sodium channel activity. An important paralog of this gene is ASIC1.
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.
-
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.
Additional gene information for ASIC2 Gene
- Monarch Initiative
- Search for ASIC2 at DataMed
- Search for ASIC2 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASIC2 Gene
Genomics for ASIC2 Gene
GeneHancer (GH) Regulatory Elements for ASIC2 Gene
Promoters and enhancers for ASIC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ASIC2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ASIC2 Gene
Genomic Locations for ASIC2 Gene
- chr17:33,013,087-34,174,964
- (GRCh38/hg38)
- Size:
- 1,161,878 bases
- Orientation:
- Minus strand
- chr17:31,340,105-32,501,983
- (GRCh37/hg19)
Genomic View for ASIC2 Gene
Genes around ASIC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q12 by Ensembl
- 17q11.2-q12 by Entrez Gene
- 17q11.2-q12 by HGNC
ASIC2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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. Heterotrimer of Asic1a-Asic2a interacts with the snake venom mambalgin-1 (PubMed:23034652). Heterotrimer of Asic1a-Asic2a interacts with the snake venom mambalgin-2 and mambalgin-3 (By similarity). Heterotrimer of Asic1a-Asic2b interacts with the snake venom mambalgin-1 and mambalgin-2 (By similarity).
- Miscellaneous:
-
- Inhibited by anti-inflammatory drugs like salicylic acid (By similarity). Regulated by Zn(2+).
Protein Expression for ASIC2 Gene
Post-translational modifications for ASIC2 Gene
Other Protein References for ASIC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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Assay Products
No data available for DME Specific Peptides for ASIC2 Gene
Domains & Families for ASIC2 Gene
Gene Families for ASIC2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted membrane proteins
Protein Domains for ASIC2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ASIC2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q16515UniProtKB/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.
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.
Phenotypes From GWAS Catalog for ASIC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005216 | ion channel activity | IEA | -- |
| GO:0005261 | cation channel activity | IEA | -- |
| GO:0005272 | sodium channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 11802773 |
| GO:0015280 | ligand-gated sodium channel activity | TAS | 8626462 |
Phenotypes for ASIC2 Gene
- MGI mutant phenotypes for ASIC2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ASIC2:
Animal Model Products
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-
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-
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miRNA for ASIC2 Gene
- miRTarBase miRNAs that target ASIC2
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Inhibitory RNA Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ACCN1 gene related products
- orf clones - Search results for available ACCN1 gene related products
- Applied Biological Materials Clones for ASIC2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for ASIC2
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ViGene Biosciences adenoviral particle packaged cDNA for ASIC2 gene
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No data available for Enzyme Numbers (IUBMB) , 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 3 |
| extracellular | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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 | -- |
| GO:0043005 | neuron projection | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASIC2 Gene
Pathways & Interactions for ASIC2 Gene
Pathways by source for ASIC2 Gene
3 Reactome pathways for ASIC2 Gene
2 KEGG pathways for ASIC2 Gene
Interacting Proteins for ASIC2 Gene
Selected Interacting proteins:
Q16515-ASIC2_HUMAN
ENSP00000225823
for ASIC2 Gene via
IID
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003026 | regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback | IEA | -- |
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006812 | cation transport | IEA | -- |
| GO:0006814 | sodium ion transport | IEA | -- |
No data available for SIGNOR curated interactions for ASIC2 Gene
Drugs & Compounds for ASIC2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Amiloride | Approved | Pharma | Channel blocker, Target, inhibitor, blocker | 55 | ||
| Nafamostat | Approved, Investigational | Pharma | Channel blocker | 4 | ||
| Lithium | Approved | Pharma | 0 | |||
| Cd<sup>2+</sup> | Pharma | Channel blocker | 0 | |||
| APETx2 | Pharma | Channel blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 | ||||
| A317567 |
|
Channel blocker |
|
|
||
| H<sup>+</sup> (extracellular) |
|
Activator |
|
|
(1) ApexBio Compounds for ASIC2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| APETx2 | 713544-47-9 |
Transcripts for ASIC2 Gene
mRNA/cDNA for ASIC2 Gene
- (2) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (3) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ASIC2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ASIC2
- genomics-online: gRNA clones - Search results for available ACCN1 gene related products
- Applied Biological Materials CRISPR for ASIC2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASIC2
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miRNA Products
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Inhibitory RNA Products
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- Browse OriGene Inhibitory RNA Products For ASIC2
- genomics-online: shRNA clones - Search results for available ACCN1 gene related products
-
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for ASIC2
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ACCN1 gene related products
- orf clones - Search results for available ACCN1 gene related products
- Applied Biological Materials Clones for ASIC2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ASIC2 Gene:
ASIC2SOURCE GeneReport for Unigene cluster for ASIC2 Gene:
Hs.368417mRNA 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.
Evidence on tissue expression from TISSUES for ASIC2 Gene
- Nervous system(4.8)
Primer Products
-
OriGene qPCR primer pairs for ASIC2
-
OriGene qPCR primer pairs and template standards for ASIC2
- genomics-online: primer clones - Search results for available ACCN1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASIC2 Gene
Orthologs for ASIC2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ASIC2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ASIC2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ASIC2 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Asic2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Asic2 33 |
|
||
| cow (Bos Taurus) |
Mammalia | ACCN1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | ASIC2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ASIC2 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14786 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | asic2 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.156 33 |
|
- Species where no ortholog for ASIC2 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for ASIC2 Gene
Variants for ASIC2 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs193921140 | uncertain-significance, Malignant tumor of prostate | 33,028,251(-) | G/T | coding_sequence_variant, missense_variant | |
| rs1000003227 | -- | 33,674,060(-) | A/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000011179 | -- | 33,987,955(-) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000011904 | -- | 33,714,642(-) | G/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000012356 | -- | 34,033,613(-) | T/C | genic_upstream_transcript_variant, intron_variant |
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)
Additional Variant Information for ASIC2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASIC2 Gene
Disorders for ASIC2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| frozen shoulder |
|
|
| hydrarthrosis |
|
|
| pseudohypoaldosteronism, type i, autosomal recessive |
|
|
| chromosome 17q11.2 deletion syndrome, 1.4-mb |
|
|
Search ASIC2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ASIC2
No data available for UniProtKB/Swiss-Prot and Genatlas for ASIC2 Gene
Publications for ASIC2 Gene
- Surface expression of ASIC2 inhibits the amiloride-sensitive current and migration of glioma cells. (PMID: 16704974) Vila-Carriles WH … Benos DJ (The Journal of biological chemistry 2006) 3 22 25 58
- Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric proton-gated channels sensitive to Gd3+. (PMID: 10842183) Babinski K … Séguéla P (The Journal of biological chemistry 2000) 3 4 22 58
- BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels. (PMID: 9037075) García-Añoveros J … Corey DP (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 22 58
- Cloning and expression of a novel human brain Na+ channel. (PMID: 8626462) Price MP … Welsh MJ (The Journal of biological chemistry 1996) 3 4 22 58
- The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans. (PMID: 8631835) Waldmann R … Lazdunski M (The Journal of biological chemistry 1996) 3 4 22 58
Products for ASIC2 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 38 available ACCN1 Antibodies ranked by validation data
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- GeneTex ASIC2 antibody for ASIC2
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Sources for ASIC2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
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