ANO8

protein-coding

anoctamin 8, the group of Anoctamins

Gene summary

Enables intracellularly calcium-gated chloride channel activity. Involved in chloride transmembrane transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1623
TMEM16H

MANE transcript

NM_020959.3

Inheritance

—

ClinVar variants

U:213B:10

Top phenotype

ANO8-related disorder

gnomAD constraint

pLI —, LoF o/e 0.18

Max pathogenic AF

—

Genomic locus

chr19:17,323,223-17,334,855

External References & Databases

Ensembl (ENSG00000074855)

Transcript & Mutation Effects

hg38 • Region Span ~11.6 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 ANO8 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 208

not providedTotal: 6

ANO8-related disorderTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020959.3. 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			4 clinvar	5 clinvar		9
missense			206 clinvar	5 clinvar		211
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	213	10	0	223

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020959.3	RefSeq	NP_066010.1	18	MANE Select
ENST00000159087.7	Ensembl	ENSP00000159087.4	18	MANE Select
ENST00000597643.5	Ensembl	ENSP00000469751.1	13	Standard
ENST00000630631.1	Ensembl	ENSP00000486865.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Stimuli-sensing channels
Ion channel transport
Post-translational protein phosphorylation
Post-translational protein modification
Metabolism of proteins

Biological Process

chloride transport
ion transmembrane transport
post-translational protein modification
cellular protein metabolic process

Molecular Function

intracellular calcium activated chloride channel activity

Cellular Component

endoplasmic reticulum lumen
plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000159087
Coding exons: 18
Length: 11607
Individuals with no LoFs: 125723
Homozygous LoFs: 0
Heterozygous LoFs: 25
Defined: 125748
p: 0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.50	497	681	0.730	0.0000465	7780
Missense (PolyPhen)		74	136.76	0.54108		1476
Synonymous	1.33	267	296	0.902	0.0000207	2575
Loss of Function	5.33	9	49.5	0.182	0.00000252	546

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.00041	0.00040	rare
East Asian	0.00022	0.00022	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.000083	0.000079	rare
South Asian	0	0.0	absent
Other	0.00036	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Does not exhibit calcium-activated chloride channel (CaCC) activity.;

Recessive Scores

pRec: 0.0940

Intolerance Scores

LoFtool: 0.510
RVIS EVS: -1.42
RVIS percentile EVS: 4.1

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.274

Gene Damage Prediction

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