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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55129
Gene name Gene Name - the full gene name approved by the HGNC.	Anoctamin 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ANO10
Synonyms (NCBI Gene) Gene synonyms aliases	SCAR10, TMEM16K
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p22.1-p21.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebellar Ataxia	Autosomal recessive cerebellar ataxia	rs540331226	N/A
Spinocerebellar Ataxia	Autosomal recessive spinocerebellar ataxia 10	rs761213683, rs768831597, rs794726681, rs772345347, rs540331226, rs1206950481, rs1575415900, rs144272231, rs1405576707, rs797045240, rs765592794, rs531656357, rs1210764379, rs387907089, rs758937084, rs794726680, rs1553724533 View all (2 more)	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Central Nervous System Lymphoma	Primary central nervous system lymphoma	N/A	N/A	GWAS
Gastroesophageal Reflux Disease	Gastroesophageal reflux disease	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

ANO10 (anoctamin 10)