ASIC2
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
acid sensing ion channel subunit 2 | MIM:601784 | Ensembl:ENSG00000108684 | HGNC:HGNC:99 | PA24433 | 17q11.2-q12 |
GO terms in ASIC2
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IPI | GO:0005515 | protein binding |
MF | TAS | GO:0015280 | ligand-gated sodium channel activity |
MF | TAS | GO:0044736 | acid-sensing ion channel activity |
CC | TAS | GO:0005886 | plasma membrane |
CC | IEA | GO:0005887 | integral component of plasma membrane |
CC | IEA | GO:0043025 | neuronal cell body |
CC | IEA | GO:0043197 | dendritic spine |
BP | IEA | GO:0003026 | regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback |
BP | TAS | GO:0007268 | chemical synaptic transmission |
BP | TAS | GO:0007417 | central nervous system development |
BP | TAS | GO:0007422 | peripheral nervous system development |
BP | IEA | GO:0007602 | phototransduction |
BP | IEA | GO:0007605 | sensory perception of sound |
BP | IEA | GO:0010447 | response to acidic pH |
BP | TAS | GO:0015672 | monovalent inorganic cation transport |
BP | IEA | GO:0019229 | regulation of vasoconstriction |
BP | TAS | GO:0034220 | ion transmembrane transport |
BP | IEA | GO:0034765 | regulation of ion transmembrane transport |
BP | IEA | GO:0035418 | protein localization to synapse |
BP | IEA | GO:0035725 | sodium ion transmembrane transport |
BP | IEA | GO:0042391 | regulation of membrane potential |
BP | IEA | GO:0043066 | negative regulation of apoptotic process |
BP | IMP | GO:0050915 | sensory perception of sour taste |
BP | IEA | GO:0050974 | detection of mechanical stimulus involved in sensory perception |
BP | IEA | GO:0051965 | positive regulation of synapse assembly |
Gene expression in normal tissue: ASIC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ASIC2
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-2672351 | Stimuli-sensing channels |
reactome | R-HSA-382551 | Transport of small molecules |
reactome | R-HSA-983712 | Ion channel transport |
kegg | hsa04742 | Taste transduction - Homo sapiens (human) |
kegg | hsa04750 | Inflammatory mediator regulation of TRP channels - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ASIC2