ASIC2
Basic information
Region (hg38): 17:33013087-34174964
Previous symbols: [ "ACCN", "ACCN1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (62 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 62 | 62 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 63 | 1 | 1 |
GnomAD
Source:
| 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:
- 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
- loftool
- 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