ASIC2
Acid-sensing ion channel 2
Also known as: ACCN, ACCN1, ASIC2_HUMAN, ASIC2a, BNaC1, BNC1, hBNaC1, MDEG
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16515
- Gene
- ASIC2
- Ensembl
- ENSG00000108684
- Chromosome
- 17
- Canonical length
- 512 aa
- Protein class
- Plasma proteins, Predicted membrane proteins
- Quaternary structure
- Homotrimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
512 residues, UniProt reviewed canonical sequence.
>Q16515|ASIC2
1 MDLKESPSEG SLQPSSIQIF ANTSTLHGIR HIFVYGPLTI RRVLWAVAFV GSLGLLLVES
61 SERVSYYFSY QHVTKVDEVV AQSLVFPAVT LCNLNGFRFS RLTTNDLYHA GELLALLDVN
121 LQIPDPHLAD PSVLEALRQK ANFKHYKPKQ FSMLEFLHRV GHDLKDMMLY CKFKGQECGH
181 QDFTTVFTKY GKCYMFNSGE DGKPLLTTVK GGTGNGLEIM LDIQQDEYLP IWGETEETTF
241 EAGVKVQIHS QSEPPFIQEL GFGVAPGFQT FVATQEQRLT YLPPPWGECR SSEMGLDFFP
301 VYSITACRID CETRYIVENC NCRMVHMPGD APFCTPEQHK ECAEPALGLL AEKDSNYCLC
361 RTPCNLTRYN KELSMVKIPS KTSAKYLEKK FNKSEKYISE NILVLDIFFE ALNYETIEQK
421 KAYEVAALLG DIGGQMGLFI GASILTILEL FDYIYELIKE KLLDLLGKEE DEGSHDENVS
481 TCDTMPNHSE TISHTVNVPL QTTLGTLEEI ACLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ASIC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 13 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 13 nTPM
- hypothalamus: 10 nTPM
- amygdala: 8.6 nTPM
- cerebellum: 8.6 nTPM
- hippocampal formation: 7.7 nTPM
- basal ganglia: 6 nTPM
Single-cell type
- respiratory ionocytes: 312 nCPM
- oligodendrocyte progenitor cells: 290 nCPM
- retinal bipolar cells: 283 nCPM
- retinal amacrine cells: 208 nCPM
- late spermatids: 192 nCPM
- other brain neurons: 137 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 31 nTPM
- cerebral cortex: 29 nTPM
- white matter: 20 nTPM
- hippocampal formation: 17 nTPM
- medulla oblongata: 17 nTPM
- midbrain: 16 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ASIC2.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 91 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.67
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to acidic pH
- cellular response to xenobiotic stimulus
- detection of mechanical stimulus involved in sensory perception
- establishment of localization in cell
- negative regulation of apoptotic process
- phototransduction
- positive regulation of synapse assembly
- protein localization to synapse
- regulation of membrane potential
- regulation of monoatomic ion transmembrane transport
- regulation of postsynapse assembly
- regulation of vasoconstriction
- sensory perception of sound
- sensory perception of sour taste
- sodium ion transmembrane transport
- synapse assembly
- regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback
Molecular functions
- ligand-gated sodium channel activity
- monoatomic ion-gated channel activity
- pH-gated sodium channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ASIC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ASIC2 as an antibody target. Whether an autoantibody or antibody against ASIC2 could matter depends on whether native ASIC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ASIC2 is annotated at the cell surface, where native ASIC2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ASIC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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