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ASIC3

acid sensing ion channel subunit 3, the group of Acid sensing ion channel subunits

Basic information

Region (hg38): 7:151048291-151052756

Previous symbols: [ "ACCN3" ]

Links

ENSG00000213199NCBI:9311OMIM:611741HGNC:101Uniprot:Q9UHC3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ASIC3 gene.

  • Inborn genetic diseases (46 variants)
  • not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASIC3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
41
clinvar
5
clinvar
2
clinvar
48
nonsense
1
clinvar
1
start loss
0
frameshift
1
clinvar
1
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 43 6 2

Variants in ASIC3

This is a list of pathogenic ClinVar variants found in the ASIC3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
7-151048910-G-A Inborn genetic diseases Uncertain significance (Aug 21, 2023)2596251
7-151048920-G-A Inborn genetic diseases Uncertain significance (Nov 15, 2021)2261220
7-151048938-G-A Inborn genetic diseases Uncertain significance (Sep 06, 2022)2215477
7-151048940-G-A Inborn genetic diseases Uncertain significance (May 17, 2023)2518211
7-151048958-T-C Inborn genetic diseases Uncertain significance (Apr 18, 2023)2537503
7-151048959-C-T Inborn genetic diseases Uncertain significance (Jan 23, 2023)2478222
7-151049007-G-A Inborn genetic diseases Uncertain significance (Aug 08, 2022)2218724
7-151049017-G-A Inborn genetic diseases Uncertain significance (Apr 07, 2022)2404735
7-151049022-C-T Inborn genetic diseases Uncertain significance (Jul 12, 2022)2289160
7-151049120-C-T Uncertain significance (May 20, 2022)1703060
7-151049121-G-A Inborn genetic diseases Uncertain significance (Jan 26, 2022)2398573
7-151049145-C-T Inborn genetic diseases Uncertain significance (Jun 23, 2023)2605939
7-151049195-C-T Inborn genetic diseases Uncertain significance (Jul 09, 2021)2234404
7-151049243-G-A Inborn genetic diseases Uncertain significance (Aug 08, 2022)2211741
7-151049265-G-A Benign (Apr 07, 2018)739352
7-151049273-G-A Inborn genetic diseases Uncertain significance (Oct 26, 2022)2363950
7-151049294-G-A Inborn genetic diseases Uncertain significance (Feb 28, 2023)2490122
7-151049332-CTA-C Uncertain significance (May 20, 2022)1703061
7-151049339-C-T Inborn genetic diseases Uncertain significance (Oct 03, 2022)2217229
7-151049379-G-A Inborn genetic diseases Uncertain significance (Jan 23, 2023)2454954
7-151049384-C-T Inborn genetic diseases Uncertain significance (Mar 23, 2022)2203944
7-151050115-C-T Inborn genetic diseases Uncertain significance (Mar 27, 2023)2521337
7-151050217-G-A Inborn genetic diseases Uncertain significance (Feb 22, 2023)2487592
7-151050221-A-G Inborn genetic diseases Uncertain significance (May 18, 2023)2548690
7-151050490-C-T Inborn genetic diseases Uncertain significance (Dec 03, 2021)2379779

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ASIC3protein_codingprotein_codingENST00000297512 114465
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.41e-70.98612534504001257450.00159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6313873541.090.00002213524
Missense in Polyphen148138.671.06731382
Synonymous-1.071651481.110.000009821144
Loss of Function2.261527.90.5370.00000167265

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001630.00163
Ashkenazi Jewish0.0002040.000198
East Asian0.001420.00141
Finnish0.0007860.000786
European (Non-Finnish)0.002430.00243
Middle Eastern0.001420.00141
South Asian0.001210.00121
Other0.0008150.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties. {ECO:0000269|PubMed:9744806, ECO:0000269|PubMed:9886053}.;
Pathway
Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Intolerance Scores

loftool
rvis_EVS
0.25
rvis_percentile_EVS
69.62

Haploinsufficiency Scores

pHI
0.0366
hipred
N
hipred_score
0.299
ghis
0.517

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Asic3
Phenotype
homeostasis/metabolism phenotype; cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process
signal transduction;sensory perception;response to heat;response to acidic pH;ion transmembrane transport;sodium ion transmembrane transport;enterobactin transport;sensory perception of sour taste;detection of temperature stimulus involved in sensory perception of pain;detection of mechanical stimulus involved in sensory perception of pain;detection of chemical stimulus involved in sensory perception of pain
Cellular component
plasma membrane;integral component of plasma membrane;perinuclear region of cytoplasm
Molecular function
cation channel activity;sodium channel activity;enterobactin transmembrane transporter activity;acid-sensing ion channel activity