ANO10 (anoctamin 10)

Gene

• Entrez ID: 55129
• Gene name: Anoctamin 10
• Gene symbol: ANO10
• Synonyms (NCBI Gene): SCAR10, TMEM16K
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 613726
• HGNC: 25519
• e!Ensembl: ENSG00000160746

Protein

• UniProt ID: 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

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal central motor function	Likely pathogenic; Pathogenic	rs540331226	RCV001814069
Autosomal recessive cerebellar ataxia	Likely pathogenic; Pathogenic	rs540331226	RCV000825557
Autosomal recessive spinocerebellar ataxia 10	Pathogenic; Likely pathogenic	rs2149481901, rs1368543726, rs777450156, rs1318561721, rs2529367691, rs540331226, rs144272231, rs1285192900, rs2529875985, rs2081048927, rs1298679975, rs764440861, rs773766788, rs387907089, rs794726680, rs761213683, rs794726681, rs1210764379, rs758937084, rs1553724533, rs768831597, rs772345347, rs1206950481, rs1575415900, rs1405576707, rs2079693628, rs1227163239	RCV001647162 RCV001726493 RCV001785940 RCV002466744 RCV002283657 RCV000149437 RCV000149439 RCV002471801 RCV003315157 RCV005629692 RCV005036944 RCV005356543 RCV005038563 RCV000024051 RCV000024052 RCV000024053 RCV000024054 RCV000501690 RCV000500094 RCV005034061 RCV004689777 RCV001644702 RCV005034333 RCV000824896 RCV000995493 RCV001254060 RCV001644964

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs4682893	RCV005920319
ANO10-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	rs61732728, rs747153209, rs1239173284, rs146629436, rs373827579, rs184756780, rs147989825, rs200570277, rs184416837	RCV003922508 RCV003909172 RCV003896782 RCV003942605 RCV003978300 RCV003910605 RCV003923251 RCV003945867 RCV003973107
Cholangiocarcinoma	Benign	rs4682893	RCV005920323
Gastric cancer	Benign; Likely benign; Uncertain significance	rs4682893, rs115769245, rs374795191	RCV005920321 RCV005897663 RCV005913894
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	rs1449619114, rs797045240	RCV005918904 RCV005892237
Sarcoma	Benign	rs4682893	RCV005920320
Thymoma	Benign; Uncertain significance	rs4682893, rs374795191	RCV005920322 RCV005913895
Uterine carcinosarcoma	Benign	rs7616708	RCV005894038
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs765592794, rs115769245	RCV005892238 RCV005897664

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	25182700, 34969792
Carcinoma Hepatocellular	Associate	33340691
Cerebellar Ataxia	Associate	21092923, 35256372
Cerebellar Diseases	Associate	35110481, 35256372
Coenzyme Q10 Deficiency	Associate	25182700
Learning Disabilities	Associate	25182700
Machado Joseph Disease	Associate	34969792
Prostatic Neoplasms	Associate	32027096
Spastic Ataxia	Associate	35110481
Speech Disorders	Associate	34969792
Spinocerebellar Ataxia 10	Associate	25182700, 35256372
Spinocerebellar Ataxias	Associate	35110481
Vocal Cord Paralysis	Associate	34969792