ANO8

anoctamin 8, the group of Anoctamins

Basic information

Region (hg38): 19:17323223-17334855

Previous symbols: [ "KIAA1623", "TMEM16H" ]

Links

ENSG00000074855 ∙ NCBI:57719 ∙ OMIM:610216 ∙ HGNC:29329 ∙ Uniprot:Q9HCE9 ∙ 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 ANO8 gene.

• not_specified (182 variants)
• not_provided (3 variants)
• ANO8-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANO8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020959.3. 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				5		5
missense			176	5		181
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	176	10	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANO8	protein_coding	protein_coding	ENST00000159087	18	11607

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.956	0.0437	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.50	497	681	0.730	0.0000465	7780
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000124	0.000124
Ashkenazi Jewish	0.000410	0.000397
East Asian	0.000225	0.000217
Finnish	0.0000928	0.0000924
European (Non-Finnish)	0.0000826	0.0000791
Middle Eastern	0.000225	0.000217
South Asian	0.00	0.00
Other	0.000360	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Does not exhibit calcium-activated chloride channel (CaCC) activity.
• Pathway: Stimuli-sensing channels;Ion channel transport;Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Transport of small molecules;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

• pRec: 0.0940

Intolerance Scores

• loftool: 0.510
• rvis_EVS: -1.42
• rvis_percentile_EVS: 4.1

Haploinsufficiency Scores

• pHI: 0.234
• hipred: Y
• hipred_score: 0.613
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.274

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ano8

Gene ontology

• Biological process: chloride transport;ion transmembrane transport;post-translational protein modification;cellular protein metabolic process
• Cellular component: endoplasmic reticulum lumen;plasma membrane;integral component of membrane
• Molecular function: intracellular calcium activated chloride channel activity