ASIC3

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

Basic information

Region (hg38): 7:151048292-151052756

Previous symbols: [ "ACCN3" ]

Links

ENSG00000213199 ∙ NCBI:9311 ∙ OMIM:611741 ∙ HGNC:101 ∙ Uniprot:Q9UHC3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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		1
missense			54	6	2	62
nonsense			1			1
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	56	7	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		not specified	Uncertain significance (Aug 21, 2023)
7-151048920-G-A		not specified	Uncertain significance (Nov 15, 2021)
7-151048929-C-T		not specified	Uncertain significance (Mar 12, 2024)
7-151048938-G-A		not specified	Uncertain significance (Sep 06, 2022)
7-151048940-G-A		not specified	Uncertain significance (May 17, 2023)
7-151048958-T-C		not specified	Uncertain significance (Apr 18, 2023)
7-151048959-C-T		not specified	Uncertain significance (Jan 23, 2023)
7-151048979-G-A		not specified	Uncertain significance (Mar 12, 2024)
7-151049007-G-A		not specified	Uncertain significance (Aug 08, 2022)
7-151049010-G-C		not specified	Uncertain significance (Oct 10, 2023)
7-151049017-G-A		not specified	Uncertain significance (Apr 07, 2022)
7-151049022-C-T		not specified	Uncertain significance (Jul 12, 2022)
7-151049078-C-T		not specified	Uncertain significance (Dec 26, 2023)
7-151049120-C-T			Uncertain significance (May 20, 2022)
7-151049121-G-A		not specified	Uncertain significance (Jan 26, 2022)
7-151049145-C-T		not specified	Uncertain significance (Jun 23, 2023)
7-151049195-C-T		not specified	Uncertain significance (Jul 09, 2021)
7-151049243-G-A		not specified	Uncertain significance (Aug 08, 2022)
7-151049255-G-A		not specified	Uncertain significance (Feb 27, 2024)
7-151049265-G-A			Benign (Apr 07, 2018)
7-151049265-G-T		not specified	Uncertain significance (May 14, 2024)
7-151049273-G-A		not specified	Uncertain significance (Oct 26, 2022)
7-151049289-C-T		not specified	Uncertain significance (Apr 17, 2024)
7-151049294-G-A		not specified	Uncertain significance (Feb 28, 2023)
7-151049332-CTA-C			Uncertain significance (May 20, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASIC3	protein_coding	protein_coding	ENST00000297512	11	4465

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.41e-7	0.986	125345	0	400	125745	0.00159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.631	387	354	1.09	0.0000221	3524
Missense in Polyphen		148	138.67	1.0673		1382
Synonymous	-1.07	165	148	1.11	0.00000982	1144
Loss of Function	2.26	15	27.9	0.537	0.00000167	265

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00163	0.00163
Ashkenazi Jewish	0.000204	0.000198
East Asian	0.00142	0.00141
Finnish	0.000786	0.000786
European (Non-Finnish)	0.00243	0.00243
Middle Eastern	0.00142	0.00141
South Asian	0.00121	0.00121
Other	0.000815	0.000815

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

• 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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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