ASIC2 (acid sensing ion channel subunit 2)

Gene

• Entrez ID: 40
• Gene name: Acid sensing ion channel subunit 2
• Gene symbol: ASIC2
• Synonyms (NCBI Gene): 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:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11802773
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10842183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0007416	Process	Synapse assembly	IEA
GO:0007602	Process	Phototransduction	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010447	Process	Response to acidic pH	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IBA
GO:0015280	Function	Ligand-gated sodium channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0022839	Function	Monoatomic ion-gated channel activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IEA
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0050915	Process	Sensory perception of sour taste	IEA
GO:0050915	Process	Sensory perception of sour taste	IMP	19812697
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071468	Process	Cellular response to acidic pH	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:0160125	Function	PH-gated sodium channel activity	IDA	10842183
GO:0160125	Function	PH-gated sodium channel activity	IEA

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

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, cerebellum, trigeminal sensory ganglia and also detected in testis. {ECO:0000269|PubMed:10842183, ECO:0000269|PubMed:8631835}.
• 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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 20	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	17324378		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	17324378		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	17376794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17376794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	34199609	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	21961650		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28927426, 30772482, 31489709		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26515597	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31308482		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	28428534	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28725010		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19561078		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36522586	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19561078		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	12584187, 16704974, 17878160	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12957380, 17878160, 18493581		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	16704974		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18493581, 29057936	Inhibit	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	22157923		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31169471		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31308482		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11059692		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	30621171		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17534430, 27314336, 30549327		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	17534430	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18493581		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12203774, 18493581		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18493581	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	18265407		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31531354		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	21811305		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	21811305	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	17553932		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31308482		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	34199609	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	25744567		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31308482		★☆☆☆☆ Found in Text Mining only