ASIC2 (acid sensing ion channel subunit 2)

Gene

• Entrez ID: 40
• Gene name: Acid sensing ion channel subunit 2
• Gene symbol: ASIC2
• Synonyms: ACCN, ACCN1, ASIC2a, BNC1, BNaC1, MDEG, hBNaC1
• Chromosome: 17
• Chromosome location: 17q11.2-q12
• 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 e

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003026	Process	Regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback	IEA
GO:0005515	Function	Protein binding	IPI	11802773
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	TAS	8626462
GO:0007417	Process	Central nervous system development	TAS	8626462
GO:0007422	Process	Peripheral nervous system development	TAS	8626462
GO:0007602	Process	Phototransduction	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0010447	Process	Response to acidic pH	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IBA	21873635
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0022839	Function	Ion gated channel activity	IEA
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0050915	Process	Sensory perception of sour taste	IMP	19812697
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0098662	Process	Inorganic cation transmembrane transport	TAS	8626462

Other IDs

• MIM: 601784
• HGNC: 99
• e!Ensembl: ENSG00000108684

Protein

• UniProt ID: Q16515
• Protein name: Acid-sensing ion channel 2 (ASIC2) (Amiloride-sensitive cation channel 1, neuronal) (Amiloride-sensitive cation channel neuronal 1) (Brain sodium channel 1) (BNC1) (BNaC1) (Mammalian degenerin homolog) (MDEG)
• Protein function: Forms pH-gated trimeric sodium channels that act as postsynaptic excitatory sensors in the nervous system (PubMed:10842183, PubMed:23034652, PubMed:8626462, PubMed:8631835). Upon extracellular acidification, these channels generate rapid, transi
• PDB: 6L6P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00858	ASC	20 → 453	Amiloride-sensitive sodium channel	Family

• Sequence:

  MDLKESPSEGSLQPSSIQIFANTSTLHGIRHIFVYGPLTIRRVLWAVAFVGSLGLLLVES
  SERVSYYFSYQHVTKVDEVVAQSLVFPAVTLCNLNGFRFSRLTTNDLYHAGELLALLDVN
  LQIPDPHLADPSVLEALRQKANFKHYKPKQFSMLEFLHRVGHDLKDMMLYCKFKGQECGH
  QDFTTVFTKYGKCYMFNSGEDGKPLLTTVKGGTGNGLEIMLDIQQDEYLPIWGETEETTF
  EAGVKVQIHSQSEPPFIQELGFGVAPGFQTFVATQEQRLTYLPPPWGECRSSEMGLDFFP
  VYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLC
  RTPCNLTRYNKELSMVKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQK
  KAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEKLLDLLGKEEDEGSHDENVS
  TCDTMPNHSETISHTVNVPLQTTLGTLEEIAC

• Sequence length: 512

Pathways

KEGG:

Taste transduction
Inflammatory mediator regulation of TRP channels

Reactome:

Stimuli-sensing channels

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	17376794
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	30621171
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137

Unknown
Disease name	Disease term	dbSNP ID	References
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	29662059