ASIC2

acid sensing ion channel subunit 2, the group of Acid sensing ion channel subunits

Basic information

Region (hg38): 17:33013086-34174964

Previous symbols: [ "ACCN", "ACCN1" ]

Links

ENSG00000108684 ∙ NCBI:40 ∙ OMIM:601784 ∙ HGNC:99 ∙ Uniprot:Q16515 ∙ 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 ASIC2 gene.

• Inborn genetic diseases (26 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASIC2 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	26	0	1

Variants in ASIC2

This is a list of pathogenic ClinVar variants found in the ASIC2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-33013987-G-A		not specified	Uncertain significance (Dec 15, 2022)
17-33013999-G-A		not specified	Uncertain significance (Sep 07, 2022)
17-33014006-G-C		not specified	Uncertain significance (Dec 13, 2021)
17-33014009-G-A		not specified	Uncertain significance (Jun 14, 2023)
17-33014047-G-T		not specified	Uncertain significance (Feb 11, 2022)
17-33015997-C-T		not specified	Uncertain significance (Dec 12, 2023)
17-33016002-T-C		not specified	Uncertain significance (Sep 29, 2022)
17-33017615-T-C		not specified	Uncertain significance (Jul 11, 2023)
17-33017625-G-A		not specified	Uncertain significance (Jul 20, 2021)
17-33023917-G-C		not specified	Uncertain significance (Feb 10, 2023)
17-33024005-G-A		not specified	Uncertain significance (Jun 06, 2023)
17-33025976-G-A		not specified	Uncertain significance (Oct 02, 2023)
17-33028251-G-T		Malignant tumor of prostate	Uncertain significance (-)
17-33028253-A-G		not specified	Uncertain significance (Nov 22, 2022)
17-33028281-T-C		not specified	Uncertain significance (Jan 04, 2024)
17-33028301-A-G		not specified	Uncertain significance (Dec 20, 2023)
17-33028396-C-T			Benign (Nov 20, 2018)
17-33088874-G-A			Uncertain significance (Dec 21, 2023)
17-33088971-T-G			Benign (Dec 31, 2019)
17-33088984-G-A		not specified	Uncertain significance (Dec 06, 2022)
17-33111919-G-C		not specified	Uncertain significance (Oct 29, 2021)
17-33111983-C-T		not specified	Uncertain significance (Jan 31, 2024)
17-33291425-G-A		not specified	Uncertain significance (Jul 09, 2021)
17-33291463-A-G		not specified	Uncertain significance (Apr 07, 2023)
17-33291577-G-A		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASIC2	protein_coding	protein_coding	ENST00000225823	10	1161879

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000880	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.67	217	298	0.728	0.0000147	3613
Missense in Polyphen		68	130.27	0.522		1502
Synonymous	0.870	113	125	0.901	0.00000665	1114
Loss of Function	4.43	1	24.8	0.0404	0.00000124	290

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000281	0.000277
European (Non-Finnish)	0.0000273	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate.
• Pathway: Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Taste transduction - Homo sapiens (human);Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.144

Intolerance Scores

• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.51

Haploinsufficiency Scores

• pHI: 0.106
• hipred: Y
• hipred_score: 0.736
• ghis: 0.577

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: Asic2
• Phenotype: muscle 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); hearing/vestibular/ear phenotype; vision/eye phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback;chemical synaptic transmission;central nervous system development;peripheral nervous system development;phototransduction;sensory perception of sound;response to acidic pH;monovalent inorganic cation transport;regulation of vasoconstriction;ion transmembrane transport;regulation of ion transmembrane transport;protein localization to synapse;sodium ion transmembrane transport;regulation of membrane potential;negative regulation of apoptotic process;sensory perception of sour taste;detection of mechanical stimulus involved in sensory perception;positive regulation of synapse assembly
• Cellular component: plasma membrane;integral component of plasma membrane;neuronal cell body;dendritic spine
• Molecular function: protein binding;ligand-gated sodium channel activity;acid-sensing ion channel activity