ASIC2

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

Basic information

Region (hg38): 17:33013087-34174964

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.

• not_specified (70 variants)
• not_provided (3 variants)
• Prostate_cancer (1 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. These statistics are base on transcript: NM_000183377.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	1	1	4
missense			70			70
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	75	1	1

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
		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

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

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