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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]
ASIC2 (Acid Sensing Ion Channel Subunit 2) is a Protein Coding gene. Diseases associated with ASIC2 include Frozen Shoulder and Pseudohypoaldosteronism, Type I, Autosomal Recessive. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Development Endothelin-1/EDNRA signaling. 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.
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.
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 | IEA,TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA,TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0043005 | neuron projection | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003026 | regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback | IEA | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA | -- |
GO:0007268 | chemical synaptic transmission | TAS | 8626462 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Amiloride | Approved | Pharma | Channel blocker, Target, inhibitor, blocker | 58 | ||
lithium | Experimental | Pharma | 0 | |||
Nafamostat | Investigational | Pharma | Channel blocker | 4 | ||
Cd<sup>2+</sup> | Pharma | Channel blocker, Antagonist, Pore 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, Inhibition, Allosteric regulator, Antagonist, Gating inhibitor, Channel blocker, Potentiation |
|
|
Compound | Action | Cas Number |
---|---|---|
APETx2 | 713544-47-9 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ASIC2 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | ASIC2 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | ASIC2 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Asic2 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Asic2 32 |
|
||
cow (Bos Taurus) |
Mammalia | ACCN1 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
ManyToMany | |
chicken (Gallus gallus) |
Aves | ASIC2 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | ASIC2 33 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14786 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | asic2 33 |
|
OneToOne | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
ManyToMany | |
-- 33 |
|
ManyToMany | |||
Cin.156 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.156 32 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
frozen shoulder |
|
|
pseudohypoaldosteronism, type i, autosomal recessive |
|
|
hydrarthrosis |
|
|
liddle syndrome 1 |
|
|