ASIC4

acid sensing ion channel subunit family member 4, the group of Acid sensing ion channel subunits

Basic information

Region (hg38): 2:219514170-219538772

Previous symbols: [ "ACCN4" ]

Links

ENSG00000072182 ∙ NCBI:55515 ∙ OMIM:606715 ∙ HGNC:21263 ∙ Uniprot:Q96FT7 ∙ 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 ASIC4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASIC4 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				2	3	5
missense				1	1	2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	3	4

Variants in ASIC4

This is a list of pathogenic ClinVar variants found in the ASIC4 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-219514822-T-C			Likely benign (Jun 21, 2018)
2-219515063-G-A			Benign (Aug 16, 2018)
2-219515105-A-G			Benign (Jun 14, 2018)
2-219532008-G-A			Likely benign (Jun 05, 2018)
2-219532351-G-A			Benign (Aug 16, 2018)
2-219535199-G-A			Likely benign (Jun 13, 2018)
2-219537655-G-T			Benign (May 17, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASIC4	protein_coding	protein_coding	ENST00000347842	9	24603

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00287	0.997	125723	0	24	125747	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.751	364	407	0.895	0.0000252	4104
Missense in Polyphen		92	142.49	0.64567		1401
Synonymous	-0.620	182	172	1.06	0.0000102	1390
Loss of Function	3.04	9	25.6	0.352	0.00000134	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000103	0.0000992
East Asian	0.000273	0.000272
Finnish	0.0000972	0.0000924
European (Non-Finnish)	0.000130	0.000123
Middle Eastern	0.000273	0.000272
South Asian	0.0000327	0.0000327
Other	0.000170	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity. {ECO:0000269|PubMed:10852210}.
• Pathway: Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.45

Haploinsufficiency Scores

• pHI: 0.356
• hipred: Y
• hipred_score: 0.749
• ghis: 0.511

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: Asic4
• 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); reproductive system phenotype

Gene ontology

• Biological process: behavioral fear response;sodium ion transmembrane transport
• Cellular component: integral component of plasma membrane
• Molecular function: ion channel activity;sodium channel activity;sodium ion transmembrane transporter activity