ASIC5 (acid sensing ion channel subunit family member 5)

Gene

• Entrez ID: 51802
• Gene name: Acid sensing ion channel subunit family member 5
• Gene symbol: ASIC5
• Synonyms (NCBI Gene): ACCN5, BASIC, HINAC, INAC
• Chromosome: 4
• Chromosome location: 4q32.1
• Summary: This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primari

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1248841709	C>A,T	Pathogenic	Intron variant, coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005272	Function	Sodium channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22735174
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:0006814	Process	Sodium ion transport	IEA
GO:0015252	Function	Proton channel activity	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:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0019228	Process	Neuronal action potential	IEA
GO:0019228	Process	Neuronal action potential	ISS
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:0098719	Process	Sodium ion import across plasma membrane	IEA
GO:0098719	Process	Sodium ion import across plasma membrane	ISS
GO:0160228	Function	Bile acid-gated sodium channel activity	IDA	22735174
GO:0160228	Function	Bile acid-gated sodium channel activity	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 616693
• HGNC: 17537
• e!Ensembl: ENSG00000256394

Protein

• UniProt ID: Q9NY37
• Protein name: Bile acid-sensitive ion channel (BASIC) (Acid-sensing ion channel subunit family member 5) (Amiloride-sensitive cation channel 5, intestinal) (Human intestine Na(+) channel) (HINaC)
• Protein function: Forms bile acid-gated sodium channels and may play a role in bile acid-dependent absorption and secretion by epithelial cells of the bile ducts (PubMed:10767424, PubMed:22735174). Displays high selectivity for sodium ions but can also permit the
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00858	ASC	41 → 466	Amiloride-sensitive sodium channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in small intestine, duodenum and jejunum. Detected at very low levels in testis and rectum. {ECO:0000269|PubMed:10767424}.
• Sequence:

  MEQTEKSKVYAENGLLEKIKLCLSKKPLPSPTERKKFDHDFAISTSFHGIHNIVQNRSKI
  RRVLWLVVVLGSVSLVTWQIYIRLLNYFTWPTTTSIEVQYVEKMEFPAVTFCNLNRFQTD
  AVAKFGVIFFLWHIVSKVLHLQEITANSTGSREATDFAASHQNFSIVEFIRNKGFYLNNS
  TLLDCEFFGKPCSPKDFAHVFTEYGNCFTFNHGETLQAKRKVSVSGRGLSLLFNVNQEAF
  TDNPALGFVDAGIIFVIHSPKKVPQFDGLGLLSPVGMHARVTIRQVKTVHQEYPWGECNP
  NIKLQNFSSYSTSGCLKECKAQHIKKQCGCVPFLLPGYGIECDLQKYFSCVSPVLDHIEF
  KDLCTVGTHNSSCPVSCEEIEYPATISYSSFPSQKALKYLSKKLNQSRKYIRENLVKIEI
  NYSDLNYKITQQQKAVSVSELLADLGGQLGLFCGASLITIIEIIEYLFTNFYWICIFFLL
  KISEMTQWTPPPQNHLGNKNRIEEC

• Sequence length: 505

Pathways

KEGG:

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pregnancy loss, recurrent, susceptibility to, 3	Pathogenic	rs1248841709	RCV000845107	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASIC5-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16463024		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	34680949	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10373210		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	8986818		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21430556		★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle Syndrome	BEFREE	8986818		★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	10404817, 12483305		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoaldosteronism	BEFREE	10404817, 12483305		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	31725169		★☆☆☆☆ Found in Text Mining only