ASIC3 (acid sensing ion channel subunit 3)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 9311
• Gene name: Acid sensing ion channel subunit 3
• Gene symbol: ASIC3
• Synonyms (NCBI Gene): ACCN3, DRASIC, SLNAC1, TNaC1
• Chromosome: 7
• Chromosome location: 7q36.1
• 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, two hydrophobic transmembrane regions, and a large

Gene ontology (GO) Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005272	Function	Sodium channel activity	TAS	9571199
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9744806, 9886053, 10842183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9571199
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0009408	Process	Response to heat	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:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042930	Process	Enterobactin transport	IEA
GO:0042931	Function	Enterobactin transmembrane transporter activity	IEA
GO:0050907	Process	Detection of chemical stimulus involved in sensory perception	IEA
GO:0050915	Process	Sensory perception of sour taste	IMP	19812697
GO:0050961	Process	Detection of temperature stimulus involved in sensory perception	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0050968	Process	Detection of chemical stimulus involved in sensory perception of pain	IEA
GO:0050968	Process	Detection of chemical stimulus involved in sensory perception of pain	ISS
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051899	Process	Membrane depolarization	IDA	9744806
GO:0160125	Function	PH-gated sodium channel activity	IDA	9744806, 9886053, 10842183
GO:0160128	Function	PH-gated monoatomic ion channel activity	IDA	9744806

Other IDs

• MIM: 611741
• HGNC: 101
• e!Ensembl: ENSG00000213199

Protein

• UniProt ID: Q9UHC3
• Protein name: Acid-sensing ion channel 3 (ASIC3) (hASIC3) (Amiloride-sensitive cation channel 3) (Neuronal amiloride-sensitive cation channel 3) (Testis sodium channel 1) (hTNaC1)
• Protein function: Forms pH-gated heterotrimeric sodium channels that act as postsynaptic excitatory receptors in the nervous system (PubMed:10842183, PubMed:11587714, PubMed:9744806, PubMed:9886053). Upon extracellular acidification, these channels generate a bip
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00858	ASC	20 → 459	Amiloride-sensitive sodium channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed by sensory neurons. Strongly expressed in brain, spinal cord, lung, lymph nodes, kidney, pituitary, heart and testis. {ECO:0000269|PubMed:9571199, ECO:0000269|PubMed:9886053}.
• Sequence:

  MKPTSGPEEARRPASDIRVFASNCSMHGLGHVFGPGSLSLRRGMWAAAVVLSVATFLYQV
  AERVRYYREFHHQTALDERESHRLIFPAVTLCNINPLRRSRLTPNDLHWAGSALLGLDPA
  EHAAFLRALGRPPAPPGFMPSPTFDMAQLYARAGHSLDDMLLDCRFRGQPCGPENFTTIF
  TRMGKCYTFNSGADGAELLTTTRGGMGNGLDIMLDVQQEEYLPVWRDNEETPFEVGIRVQ
  IHSQEEPPIIDQLGLGVSPGYQTFVSCQQQQLSFLPPPWGDCSSASLNPNYEPEPSDPLG
  SPSPSPSPPYTLMGCRLACETRYVARKCGCRMVYMPGDVPVCSPQQYKNCAHPAIDAMLR
  KDSCACPNPCASTRYAKELSMVRIPSRAAARFLARKLNRSEAYIAENVLALDIFFEALNY
  ETVEQKKAYEMSELLGDIGGQMGLFIGASLLTILEILDYLCEVFRDKVLGYFWNRQHSQR
  HSSTNLLQEGLGSHRTQVPHLSLGPRPPTPPCAVTKTLSASHRTCYLVTQL

• Sequence length: 531

Pathways

KEGG Pathway:

Inflammatory mediator regulation of TRP channels

Reactome Pathway:

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	Reference	Evidence Score
Familial cancer of breast	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (29)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis	Arthritis	BEFREE	24923411, 30035658		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20416288, 24804235		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24804235		★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	21855903	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	28428534	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	19647494, 22210239	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	33655767	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28019039, 29057936, 36522586, 39227705	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28019039, 29057936		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28019039, 29057936		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28019039	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28019039		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29057936	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	22157923		★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	21855903	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31169471		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32764209	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	27853274, 28765874, 31526163		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	27853274, 33824228	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30849303		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	29036449		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28254863, 29057936		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30209688, 30553789		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28254863		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	24804235		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28019039		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28019039	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	BEFREE	29971861		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24923411, 28827659, 30035658		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ASIC1 2 shared pathwaysInflammatory mediator regulation of TRP channels, Stimuli-sensing channels Related via 2 shared pathways including Inflammatory mediator regulation of TRP channels, Stimuli-sensing channels. ASIC5 2 shared pathwaysInflammatory mediator regulation of TRP channels, Stimuli-sensing channels Related via 2 shared pathways including Inflammatory mediator regulation of TRP channels, Stimuli-sensing channels. ASIC4 2 shared pathwaysInflammatory mediator regulation of TRP channels, Stimuli-sensing channels Related via 2 shared pathways including Inflammatory mediator regulation of TRP channels, Stimuli-sensing channels. ASIC2 2 shared pathwaysInflammatory mediator regulation of TRP channels, Stimuli-sensing channels Related via 2 shared pathways including Inflammatory mediator regulation of TRP channels, Stimuli-sensing channels. CALM1 2 shared pathwaysInflammatory mediator regulation of TRP channels, Stimuli-sensing channels Related via 2 shared pathways including Inflammatory mediator regulation of TRP channels, Stimuli-sensing channels.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ASIC1	0	[]	2	["Inflammatory mediator regulation of TRP channels","Stimuli-sensing channels"]	0	[]
ASIC5	0	[]	2	["Inflammatory mediator regulation of TRP channels","Stimuli-sensing channels"]	0	[]
ASIC4	0	[]	2	["Inflammatory mediator regulation of TRP channels","Stimuli-sensing channels"]	0	[]
ASIC2	0	[]	2	["Inflammatory mediator regulation of TRP channels","Stimuli-sensing channels"]	0	[]
CALM1	0	[]	2	["Inflammatory mediator regulation of TRP channels","Stimuli-sensing channels"]	0	[]

Diseases Linked via Similar Genes

Brain injuries Linked via 1 of 5 related genesASIC1 Brain ischemia Linked via 1 of 5 related genesASIC1 Schizophrenia Linked via 1 of 5 related genesASIC1 Diabetic retinopathy Linked via 1 of 5 related genesASIC5 Autism Linked via 1 of 5 related genesASIC2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Brain injuries	1	["ASIC1"]
Brain ischemia	1	["ASIC1"]
Schizophrenia	1	["ASIC1"]
Diabetic retinopathy	1	["ASIC5"]
Autism	1	["ASIC2"]