Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55129
Gene name	Anoctamin 10
Gene symbol	ANO10
Synonyms (NCBI Gene)	SCAR10TMEM16K
Chromosome	3
Chromosome location	3p22.1-p21.33
Summary	The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Def

Show/Hide all (22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138000380	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, intron variant, missense variant
rs144272231	C>A,T	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs146569520	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs146629436	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs147989825	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs387907089	A>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs531656357	A>G	Pathogenic-likely-pathogenic	Initiator codon variant, non coding transcript variant, missense variant
rs540331226	T>-,TT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs758937084	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs761213683	C>A,T	Pathogenic	Splice donor variant
rs761765455	T>C	Pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs765592794	C>T	Pathogenic	Splice donor variant, intron variant
rs768831597	T>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs772345347	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained
rs794726680	AA>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs794726681	A>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045240	T>A,C	Pathogenic	Splice acceptor variant
rs1206950481	C>T	Likely-pathogenic	Splice donor variant
rs1210764379	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, intron variant, coding sequence variant, stop gained
rs1405576707	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, intron variant
rs1553724533	T>C	Pathogenic	Splice acceptor variant
rs1575415900	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments
MIRT785619	hsa-miR-1182	CLIP-seq
MIRT785620	hsa-miR-2053	CLIP-seq
MIRT785621	hsa-miR-3117-5p	CLIP-seq
MIRT785622	hsa-miR-3161	CLIP-seq
MIRT785623	hsa-miR-3170	CLIP-seq
MIRT785624	hsa-miR-3689a-3p	CLIP-seq
MIRT785625	hsa-miR-3689c	CLIP-seq
MIRT785626	hsa-miR-4425	CLIP-seq
MIRT785627	hsa-miR-4781-3p	CLIP-seq
MIRT785628	hsa-miR-541	CLIP-seq
MIRT785629	hsa-miR-569	CLIP-seq
MIRT785630	hsa-miR-654-5p	CLIP-seq
MIRT785631	hsa-miR-1825	CLIP-seq
MIRT785632	hsa-miR-199a-5p	CLIP-seq
MIRT785633	hsa-miR-199b-5p	CLIP-seq
MIRT785634	hsa-miR-4302	CLIP-seq
MIRT785635	hsa-miR-4648	CLIP-seq
MIRT785636	hsa-miR-4654	CLIP-seq
MIRT785637	hsa-miR-4747-5p	CLIP-seq
MIRT785638	hsa-miR-4769-5p	CLIP-seq
MIRT2172161	hsa-miR-193a-5p	CLIP-seq
MIRT2172162	hsa-miR-4433	CLIP-seq
MIRT2172163	hsa-miR-4459	CLIP-seq
MIRT785637	hsa-miR-4747-5p	CLIP-seq
MIRT2172164	hsa-miR-4768-3p	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005227	Function	Calcium-activated cation channel activity	IDA	22946059
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	21984732
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	22946059
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22946059
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	22946059

MIM	HGNC	e!Ensembl
613726	25519	ENSG00000160746

Q9NW15

Protein name

Anoctamin-10 (Transmembrane protein 16K)

Protein function

Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1.

PDB

5OC9 , 6R65 , 6R7X , 6R7Y , 6R7Z

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04547	Anoctamin	200 → 627	Calcium-activated chloride channel	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the brain. Intermediate levels in the retina and heart and low levels in the placenta, liver, lung, duodenum, kidney, testis and spleen. In brain areas, highest expression in the frontal and occipital cortices and i

Sequence

MKVTLSALDTSESSFTPLVVIELAQDVKEETKEWLKNRIIAKKKDGGAQLLFRPLLNKYE
QETLENQNLYLVGASKIRMLLGAEAVGLVKECNDNTMRAFTYRTRQNFKGFDDNNDDFLT
MAECQFIIKHELENLRAKDEKMIPGYPQAKLYPGKSLLRRLLTSGIVIQVFPLHDSEALK
KLEDTWYTRFALKYQPIDSIRGYFGETIALYFGFLEYFTFALIPMAVIGLPYYLFVWEDY
DKYVIFASFNLIWSTVILELWKRGCANMTYRWGTLLMKRKFEEPRPGFHGVLGINSITGK
EEPLYPSYKRQLRIYLVSLPFVCLCLYFSLYVMMIYFDMEVWALGLHENSGSEWTSVLLY
VPSIIYAIVIEIMNRLYRYAAEFLTSWENHRLESAYQNHLILKVLVFNFLNCFASLFYIA
FVLKDMKLLRQSLATLLITSQILNQIMESFLPYWLQRKHGVRVKRKVQALKADIDATLYE
QVILEKEMGTYLGTFDDYLELFLQFGYVSLFSCVYPLAAAFAVLNNFTEVNSDALKMCRV
FKRPFSEPSANIGVWQLAFETMSVISVVTNCALIGMSPQVNAVFPESKADLILIVVAVEH
ALLALKFILAFAIPDKPRHIQMKLARLEFESLEALKQQQMKLVTENLKEEPMESGKEKAT

Sequence length

660

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal central motor function	Likely pathogenic; Pathogenic	rs540331226	RCV001814069	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive cerebellar ataxia	Likely pathogenic; Pathogenic	rs540331226	RCV000825557	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive spinocerebellar ataxia 10	Pathogenic; Likely pathogenic	rs2149481901, rs1368543726, rs777450156, rs1318561721, rs2529367691, rs540331226, rs144272231, rs1285192900, rs2529875985, rs2081048927, rs1298679975, rs764440861, rs773766788, rs387907089, rs794726680 View all (12 more)	RCV001647162 RCV001726493 RCV001785940 RCV002466744 RCV002283657 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANO10-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM NON-HODGKIN LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIGLYCERIDE STORAGE DISEASE WITH ICHTHYOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (51)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired porencephaly	Acquired Porencephaly	BEFREE	27045840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-onset autosomal recessive cerebellar ataxia	Cerebellar Ataxia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	25182700, 34969792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	21642943		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33340691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	21092923, 35256372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	25089919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	28316589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	35110481, 35256372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	25182700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	25182700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	GWASCAT_DG	31527586		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	25182700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21642943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	21642943		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31477691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Hodgkin`s lymphoma of central nervous system	Non-Hodgkin`s Lymphoma Of Central Nervous System	GWASCAT_DG	31102405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	25089919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	25089919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	BEFREE	27045840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	27045840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32027096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scott Syndrome	Scott Syndrome	BEFREE	21642943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	35110481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 10	Spinocerebellar ataxia	Pubtator	25182700, 35256372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia	BEFREE	31423897, 31477691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10	Spinocerebellar Ataxia	ORPHANET_DG	21092923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	21092923, 25182700		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10	Spinocerebellar Ataxia	UNIPROT_DG	21092923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10	Spinocerebellar Ataxia	BEFREE	25182700, 31423897, 31477691		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10	Spinocerebellar Ataxia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	35110481	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ANO10 (anoctamin 10)