HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ASIC5
acid sensing ion channel subunit family member 5
Chromosome 4 Β· 4q32.1
NCBI Gene: 51802Ensembl: ENSG00000256394.3HGNC: HGNC:17537UniProt: Q9NY37
6PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
bile acid-gated sodium channel activityplasma membranesodium ion import across plasma membraneapical plasma membranehabitual abortionbile duct disorderlagophthalmostemporomandibular joint disorder
✦AI Summary

ASIC5 is a bile acid-gated sodium channel subunit belonging to the acid-sensing ion channel (ASIC) family 1. It functions as a component of ion channels that display high selectivity for sodium ions while permitting other cations 2. ASIC5 forms functional homo- or heteromeric trimers in the plasma membrane 3 and exhibits single-channel properties including ~11 pS conductance and high Na+ selectivity 4. The channel is activated synergistically by bile acids such as chenodeoxycholic acid and deoxycholic acid 4, mediating bile acid-dependent absorption and secretion in bile duct epithelial cells 2. In the central nervous system, ASIC5 may contribute to motor coordination and balance as a sodium channel in type II unipolar brush cells of the vestibulocerebellum 3. Pathologically, ASIC5 mutations have been associated with recurrent pregnancy loss; a homozygous R227I substitution (c.680G>T) impairs protein stability and prevents amiloride binding, reducing channel activation 5. Additionally, ASIC5 mutations have been identified in patients with Usher-like phenotypes presenting retinal dystrophy 6. These findings establish ASIC5's role in gastrointestinal function and suggest broader involvement in reproductive and sensory processes.

Sources cited
1
ASIC5 is one of eight ASIC subunit proteins encoded by five genes in the ASIC family
PMID: 35466865
2
ASIC5 (hINaC) is an amiloride-sensitive Na+ channel principally expressed in small intestine with high Na+ selectivity
PMID: 10767424
3
ASIC5 forms functional homo- or heteromeric trimers and plays roles in brain function including synaptic plasticity
PMID: 33550975
4
Human BASIC (ASIC5) shows single-channel conductance of ~11 pS, high Na+ selectivity, and is activated synergistically by bile acids
PMID: 23842738
5
Homozygous ASIC5 R227I mutation causes recurrent pregnancy loss by reducing protein stability and preventing amiloride-mediated channel activation
PMID: 34395479
6
ASIC5 homozygous mutation identified in patient with Usher-like phenotype and retinal dystrophy
PMID: 31725169
Disease Associationsβ“˜20
habitual abortionOpen Targets
0.33Weak
bile duct disorderOpen Targets
0.05Suggestive
lagophthalmosOpen Targets
0.03Suggestive
temporomandibular joint disorderOpen Targets
0.03Suggestive
nephrotic syndromeOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
pathological myopiaOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.03Suggestive
fibula fractureOpen Targets
0.03Suggestive
tibia fractureOpen Targets
0.03Suggestive
liver diseaseOpen Targets
0.03Suggestive
external ear diseaseOpen Targets
0.02Suggestive
placental retentionOpen Targets
0.02Suggestive
AnxietyOpen Targets
0.02Suggestive
pneumonitisOpen Targets
0.02Suggestive
AtaxiaOpen Targets
0.02Suggestive
cerebellar ataxiaOpen Targets
0.02Suggestive
Posterior Leukoencephalopathy SyndromeOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_017419.3(ASIC5):c.680G>T (p.Arg227Ile)Pathogenic
Pregnancy loss, recurrent, susceptibility to, 3
β˜†β˜†β˜†β˜†2019β†’ Residue 227
View on ClinVar β†—
Related Genes
ASIC4Protein interaction76%ASIC3Protein interaction68%SLC9A5Shared pathway44%SLC9A3Shared pathway40%SLC9A4Shared pathway36%SLC9A7Shared pathway36%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Ovary
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ASIC5ASIC4ASIC3SLC9A5SLC9A3SLC9A4SLC9A7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NY37
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.29LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.97 [0.73–1.29]
RankingsWhere ASIC5 stands among ~20K protein-coding genes
  • #18,024of 20,598
    Most Researched6
  • #5,491of 5,498
    Most Pathogenic Variants1
  • #13,553of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedASIC5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Recent Advances in Acid-sensitive Ion Channels in Central Nervous System Diseases.
PMID: 35466865
Curr Pharm Des Β· 2022
1.00
2
Acid-Sensing Ion Channels: Focus on Physiological and Some Pathological Roles in the Brain.
PMID: 33550975
Curr Neuropharmacol Β· 2021
0.90
3
ASIC and ENaC type sodium channels: conformational states and the structures of the ion selectivity filters.
PMID: 27580245
FEBS J Β· 2017
0.80
4
Whole-Genome Sequencing Reveals Exonic Variation of
PMID: 34395479
Front Med (Lausanne) Β· 2021
0.70
5
Effects of oocyte vitrification on gene expression in the liver and kidney tissues of adult offspring.
PMID: 36223009
J Assist Reprod Genet Β· 2022
0.60