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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 Taste transduction 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 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 | TAS,IEA | -- |
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 | -- |
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 | 60 | ||
lithium | Experimental | Pharma | 0 | |||
Nafamostat | Investigational | Pharma | Channel blocker | 7 | ||
Cd<sup>2+</sup> | Pharma | Channel blocker, Pore Blocker, Antagonist | 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, Allosteric regulator, Inhibition, Gating inhibitor, Antagonist, 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 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASIC2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ASIC2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Asic2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Asic2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | ACCN1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | ASIC2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ASIC2 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14786 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | asic2 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.156 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
735541 | Benign: not provided | 33,088,971(-) | T/G | SYNONYMOUS_VARIANT | |
791344 | Benign: not provided | 33,028,396(-) | C/T | INTRON_VARIANT | |
rs193921140 | Uncertain Significance: Malignant tumor of prostate | 33,028,251(-) | G/T | MISSENSE_VARIANT | |
rs16967895 | - | p.Asp354Gly |
Disorder | Aliases | PubMed IDs |
---|---|---|
frozen shoulder |
|
|
pseudohypoaldosteronism, type i, autosomal recessive |
|
|
liddle syndrome 1 |
|
|
panic disorder |
|
|