ASIC5

protein-coding

acid sensing ion channel subunit family member 5, the group of Acid sensing ion channel subunits

Gene summary

This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]

Previous symbols:

ACCN5

MANE transcript

NM_017419.3

Inheritance

—

ClinVar variants

P:1U:74B:16

Top phenotype

ASIC5-related disorder

gnomAD constraint

pLI —, LoF o/e 0.95

Max pathogenic AF

—

Genomic locus

chr4:155,829,729-155,866,277

External References & Databases

Ensembl (ENSG00000256394)

Transcript & Mutation Effects

hg38 • Region Span ~36.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ASIC5 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 78

ASIC5-related disorderTotal: 17

not providedTotal: 1

Pregnancy loss, recurrent, susceptibility to, 3Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017419.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar		3
missense	1 clinvar		74 clinvar	13 clinvar		88
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	74	16	0	91

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017419.3	RefSeq	NP_059115.1	10	MANE Select
ENST00000537611.3	Ensembl	ENSP00000442477.2	10	MANE Select
XM_017008291.2	RefSeq	XP_016863780.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Inflammatory mediator regulation of TRP channels - Homo sapiens (human)
Stimuli-sensing channels
Ion channel transport
Transport of small molecules

Biological Process

ion transmembrane transport
sodium ion transmembrane transport
proton transmembrane transport

Molecular Function

sodium channel activity
proton channel activity
acid-sensing ion channel activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000537611
Coding exons: 10
Length: 36545
Individuals with no LoFs: 125594
Homozygous LoFs: 0
Heterozygous LoFs: 152
Defined: 125746
p: 0.000605

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.326	273	258	1.06	0.0000124	3346
Missense (PolyPhen)		60	60.818	0.98656		783
Synonymous	-0.993	101	89.1	1.13	0.00000441	908
Loss of Function	0.220	21	22.1	0.949	0.00000102	297

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00026	0.00025	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00066	0.00065	rare
Finnish	0.00063	0.00060	rare
European (Non-Finnish)	0.00068	0.00068	rare
South Asian	0.0013	0.0013	notable
Other	0.00068	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride. {ECO:0000269|PubMed:10767424}.;

Recessive Scores

pRec: 0.0915

Intolerance Scores

RVIS EVS: -0.51
RVIS percentile EVS: 21.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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