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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55107
Gene name	Anoctamin 1
Gene symbol	ANO1
Synonyms (NCBI Gene)	DOG1INDMSMYMY7ORAOV2TAOS2TMEM16A
Chromosome	11
Chromosome location	11q13.3

113

Show/Hide all (113)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018614	hsa-miR-335-5p	Microarray	18185580
MIRT022406	hsa-miR-124-3p	Microarray	18668037
MIRT785639	hsa-miR-1290	CLIP-seq
MIRT785640	hsa-miR-146b-3p	CLIP-seq
MIRT785641	hsa-miR-181a	CLIP-seq
MIRT785642	hsa-miR-181b	CLIP-seq
MIRT785643	hsa-miR-181c	CLIP-seq
MIRT785644	hsa-miR-181d	CLIP-seq
MIRT785645	hsa-miR-3167	CLIP-seq
MIRT785646	hsa-miR-3173-5p	CLIP-seq
MIRT785647	hsa-miR-3177-5p	CLIP-seq
MIRT785648	hsa-miR-3691-5p	CLIP-seq
MIRT785649	hsa-miR-3938	CLIP-seq
MIRT785650	hsa-miR-4262	CLIP-seq
MIRT785651	hsa-miR-4300	CLIP-seq
MIRT785652	hsa-miR-4456	CLIP-seq
MIRT785653	hsa-miR-4752	CLIP-seq
MIRT785654	hsa-miR-4763-5p	CLIP-seq
MIRT785655	hsa-miR-541	CLIP-seq
MIRT785656	hsa-miR-599	CLIP-seq
MIRT785657	hsa-miR-654-5p	CLIP-seq
MIRT785658	hsa-miR-670	CLIP-seq
MIRT785659	hsa-miR-671-5p	CLIP-seq
MIRT785660	hsa-miR-874	CLIP-seq
MIRT785661	hsa-miR-876-5p	CLIP-seq
MIRT785662	hsa-miR-920	CLIP-seq
MIRT1931762	hsa-miR-144	CLIP-seq
MIRT785641	hsa-miR-181a	CLIP-seq
MIRT785642	hsa-miR-181b	CLIP-seq
MIRT785643	hsa-miR-181c	CLIP-seq
MIRT785644	hsa-miR-181d	CLIP-seq
MIRT785647	hsa-miR-3177-5p	CLIP-seq
MIRT785650	hsa-miR-4262	CLIP-seq
MIRT1931763	hsa-miR-4649-3p	CLIP-seq
MIRT1931764	hsa-miR-582-3p	CLIP-seq
MIRT785656	hsa-miR-599	CLIP-seq
MIRT2172165	hsa-miR-1	CLIP-seq
MIRT2172166	hsa-miR-1179	CLIP-seq
MIRT2172167	hsa-miR-1280	CLIP-seq
MIRT2172168	hsa-miR-1321	CLIP-seq
MIRT2172169	hsa-miR-140-3p	CLIP-seq
MIRT1931762	hsa-miR-144	CLIP-seq
MIRT2172170	hsa-miR-147	CLIP-seq
MIRT2172171	hsa-miR-1913	CLIP-seq
MIRT2172172	hsa-miR-194	CLIP-seq
MIRT2172173	hsa-miR-206	CLIP-seq
MIRT2172174	hsa-miR-2115	CLIP-seq
MIRT2172175	hsa-miR-2276	CLIP-seq
MIRT2172176	hsa-miR-2355-3p	CLIP-seq
MIRT2172177	hsa-miR-298	CLIP-seq
MIRT2172178	hsa-miR-3144-5p	CLIP-seq
MIRT2172179	hsa-miR-3145-3p	CLIP-seq
MIRT2172180	hsa-miR-3150a-3p	CLIP-seq
MIRT2172181	hsa-miR-3162-5p	CLIP-seq
MIRT2172182	hsa-miR-3175	CLIP-seq
MIRT2172183	hsa-miR-3183	CLIP-seq
MIRT2172184	hsa-miR-3190	CLIP-seq
MIRT2172185	hsa-miR-3191	CLIP-seq
MIRT2172186	hsa-miR-324-3p	CLIP-seq
MIRT2172187	hsa-miR-330-3p	CLIP-seq
MIRT2172188	hsa-miR-3650	CLIP-seq
MIRT2172189	hsa-miR-3663-5p	CLIP-seq
MIRT2172190	hsa-miR-3665	CLIP-seq
MIRT2172191	hsa-miR-3678-3p	CLIP-seq
MIRT2172192	hsa-miR-370	CLIP-seq
MIRT2172193	hsa-miR-3911	CLIP-seq
MIRT2172194	hsa-miR-3921	CLIP-seq
MIRT2172195	hsa-miR-3934	CLIP-seq
MIRT2172196	hsa-miR-4317	CLIP-seq
MIRT2172197	hsa-miR-4474-3p	CLIP-seq
MIRT2172198	hsa-miR-4488	CLIP-seq
MIRT2172199	hsa-miR-4635	CLIP-seq
MIRT2172200	hsa-miR-4641	CLIP-seq
MIRT2172201	hsa-miR-4645-3p	CLIP-seq
MIRT2172202	hsa-miR-4646-3p	CLIP-seq
MIRT1931763	hsa-miR-4649-3p	CLIP-seq
MIRT2172203	hsa-miR-4652-5p	CLIP-seq
MIRT2172204	hsa-miR-4653-5p	CLIP-seq
MIRT2172205	hsa-miR-4667-5p	CLIP-seq
MIRT2172206	hsa-miR-4697-5p	CLIP-seq
MIRT2172207	hsa-miR-4700-5p	CLIP-seq
MIRT2172208	hsa-miR-4714-5p	CLIP-seq
MIRT2172209	hsa-miR-4715-5p	CLIP-seq
MIRT2172210	hsa-miR-4723-3p	CLIP-seq
MIRT2172211	hsa-miR-4731-5p	CLIP-seq
MIRT2172212	hsa-miR-4736	CLIP-seq
MIRT2172213	hsa-miR-4739	CLIP-seq
MIRT2172214	hsa-miR-4756-5p	CLIP-seq
MIRT2172215	hsa-miR-4760-5p	CLIP-seq
MIRT2172216	hsa-miR-4772-3p	CLIP-seq
MIRT2172217	hsa-miR-486-3p	CLIP-seq
MIRT2172218	hsa-miR-491-5p	CLIP-seq
MIRT2172219	hsa-miR-499-3p	CLIP-seq
MIRT2172220	hsa-miR-499a-3p	CLIP-seq
MIRT2172221	hsa-miR-5096	CLIP-seq
MIRT2172222	hsa-miR-516a-3p	CLIP-seq
MIRT2172223	hsa-miR-518a-5p	CLIP-seq
MIRT2172224	hsa-miR-527	CLIP-seq
MIRT2172225	hsa-miR-544	CLIP-seq
MIRT2172226	hsa-miR-596	CLIP-seq
MIRT2172227	hsa-miR-613	CLIP-seq
MIRT2172228	hsa-miR-644	CLIP-seq
MIRT785658	hsa-miR-670	CLIP-seq
MIRT2172229	hsa-miR-711	CLIP-seq
MIRT2172230	hsa-miR-939	CLIP-seq
MIRT2172171	hsa-miR-1913	CLIP-seq
MIRT2172186	hsa-miR-324-3p	CLIP-seq
MIRT2172189	hsa-miR-3663-5p	CLIP-seq
MIRT2172200	hsa-miR-4641	CLIP-seq
MIRT2172171	hsa-miR-1913	CLIP-seq
MIRT2172186	hsa-miR-324-3p	CLIP-seq
MIRT2172189	hsa-miR-3663-5p	CLIP-seq
MIRT2172200	hsa-miR-4641	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005227	Function	Calcium-activated cation channel activity	IDA	22946059
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IBA
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	21984732
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IEA
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IMP	22178883, 22946059, 37253099
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	ISS
GO:0005247	Function	Voltage-gated chloride channel activity	ISS
GO:0005254	Function	Chloride channel activity	IDA	32487539
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	IMP	24885604, 28963502
GO:0005254	Function	Chloride channel activity	TAS
GO:0005515	Function	Protein binding	IPI	22178883
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21984732, 22178883, 22946059, 28559167
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	IMP	28963502
GO:0006821	Process	Chloride transport	ISS
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS
GO:0015111	Function	Iodide transmembrane transporter activity	IMP	25201006
GO:0015705	Process	Iodide transport	IMP	25201006
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	25201006, 31732694, 32487539
GO:0016324	Component	Apical plasma membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034605	Process	Cellular response to heat	ISS
GO:0034707	Component	Chloride channel complex	IEA
GO:0042802	Function	Identical protein binding	IPI	28559167
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070254	Process	Mucus secretion	IMP	33026825
GO:0070254	Process	Mucus secretion	ISS
GO:0072657	Process	Protein localization to membrane	IMP	28963502
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0098793	Component	Presynapse	IEA
GO:0106091	Process	Glial cell projection elongation	ISS
GO:1901653	Process	Cellular response to peptide	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	32487539
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IMP	22946059, 24885604

MIM	HGNC	e!Ensembl
610108	21625	ENSG00000131620

Q5XXA6

Protein name

Anoctamin-1 (Discovered on gastrointestinal stromal tumors protein 1) (Oral cancer overexpressed protein 2) (Transmembrane protein 16A) (Tumor-amplified and overexpressed sequence 2)

Protein function

Calcium-activated chloride channel (CaCC) (PubMed:20056604, PubMed:22178883, PubMed:22946059, PubMed:32487539). Plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitia

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16178	Anoct_dimer	54 → 317	Dimerisation domain of Ca+-activated chloride-channel, anoctamin	Family
PF04547	Anoctamin	320 → 926	Calcium-activated chloride channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in nasal epithelial cells (at protein level) (PubMed:32487539). In the kidney, expressed in the collecting duct (at protein level) (PubMed:24913262). Broadly expressed with higher levels in liver, skeletal muscle and gastroin

Sequence

MRVNEKYSTLPAEDRSVHIINICAIEDIGYLPSEGTLLNSLSVDPDAECKYGLYFRDGRR
KVDYILVYHHKRPSGNRTLVRRVQHSDTPSGARSVKQDHPLPGKGASLDAGSGEPPMDYH
EDDKRFRREEYEGNLLEAGLELERDEDTKIHGVGFVKIHAPWNVLCREAEFLKLKMPTKK
MYHINETRGLLKKINSVLQKITDPIQPKVAEHRPQTMKRLSYPFSREKQHLFDLSDKDSF
FDSKTRSTIVYEILKRTTCTKAKYSMGITSLLANGVYAAAYPLHDGDYNGENVEFNDRKL
LYEEWARYGVFYKYQPIDLVRKYFGEKIGLYFAWLGVYTQMLIPASIVGIIVFLYGCATM
DENIPSMEMCDQRHNITMCPLCDKTCSYWKMSSACATARASHLFDNPATVFFSVFMALWA
ATFMEHWKRKQMRLNYRWDLTGFEEEEEAVKDHPRAEYEARVLEKSLKKESRNKEKRRHI
PEESTNKWKQRVKTAMAGVKLTDKVKLTWRDRFPAYLTNLVSIIFMIAVTFAIVLGVIIY
RISMAAALAMNSSPSVRSNIRVTVTATAVIINLVVIILLDEVYGCIARWLTKIEVPKTEK
SFEERLIFKAFLLKFVNSYTPIFYVAFFKGRFVGRPGDYVYIFRSFRMEECAPGGCLMEL
CIQLSIIMLGKQLIQNNLFEIGIPKMKKLIRYLKLKQQSPPDHEECVKRKQRYEVDYNLE
PFAGLTPEYMEMIIQFGFVTLFVASFPLAPLFALLNNIIEIRLDAKKFVTELRRPVAVRA
KDIGIWYNILRGIGKLAVIINAFVISFTSDFIPRLVYLYMYSKNGTMHGFVNHTLSSFNV
SDFQNGTAPNDPLDLGYEVQICRYKDYREPPWSENKYDISKDFWAVLAARLAFVIVFQNL
VMFMSDFVDWVIPDIPKDISQQIHKEKVLMVELFMREEQDKQQLLETWMEKERQKDEPPC
NHHNTKACPDSLGSPAPSHAYHGGVL

Sequence length

986

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ANO1-related fatal neonatal disease due to impaired chloride currents	Likely pathogenic	rs2135625521	RCV002052119
Moyamoya disease 7	Pathogenic	rs2497233087, rs2497302924	RCV003493375 RCV003493376

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Uncertain significance	rs200636852	RCV005939045
Intestinal dysmotility syndrome	Uncertain significance	rs1555026985	RCV002284410

Show/Hide Text Mining Associations (80)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	25690258, 34717148
Adenocarcinoma of Lung	Associate	34329684
Alzheimer Disease	Associate	35316222
Anemia	Associate	24379641
Aneurysm	Associate	37253099
Arterial Occlusive Diseases	Associate	37253099
Arthritis Rheumatoid	Associate	28413214
Brain Diseases	Associate	33842002
Breast Neoplasms	Associate	23866066, 24886289, 27041791, 29949674, 34717148
Breast Neoplasms	Stimulate	25961581
Calcinosis Cutis	Associate	27750372
Carcinogenesis	Associate	27732935
Carcinoma	Associate	34717148
Carcinoma Acinar Cell	Associate	22460810, 26464669, 32519264
Carcinoma Adenoid Cystic	Stimulate	22460810
Carcinoma Adenoid Cystic	Associate	26464669
Carcinoma Ductal Breast	Associate	24886289
Carcinoma Non Small Cell Lung	Associate	35785700, 36222132
Carcinoma Pancreatic Ductal	Associate	25163766, 34717148
Carcinoma Squamous Cell	Associate	34717148
Cerebellar Ataxia	Associate	21092923
Cerebral Infarction	Associate	35316222
Cholangiocarcinoma	Associate	37219012
Colonic Neoplasms	Associate	34717148, 36518255
Colorectal Neoplasms	Associate	25541940, 26868958, 34192810, 35373573
Congenital chloride diarrhea	Associate	36162332
Constriction Pathologic	Associate	37253099
Cystic Fibrosis	Associate	15218996, 22973054, 25268501, 36162332, 37967223
Dementia Vascular	Associate	35316222
Endocrine Gland Neoplasms	Associate	31182586
Endometrial Stromal Tumors	Associate	32164724
Eosinophilic Esophagitis	Associate	37652141
Esophageal Neoplasms	Associate	27016410
Esophageal Squamous Cell Carcinoma	Associate	18405350, 18981721, 27016410, 31793228, 37635445
Gastrointestinal Diseases	Associate	29052298
Gastrointestinal Neoplasms	Associate	37341301
Gastrointestinal Stromal Tumors	Associate	15215166, 21358619, 22460810, 22799337, 22912841, 24379641, 25674291, 26867653, 27041791, 27153560, 27178821, 28044310, 28288036, 29018259, 31062732, 31266974, 34717148, 37545902 View all (3 more)
Glioblastoma	Associate	27212225, 32357567
Head and Neck Neoplasms	Associate	31790150
Hereditary Breast and Ovarian Cancer Syndrome	Associate	27041791
Hypertension	Associate	33842002
Hypertension Pulmonary	Associate	33842002
Hypoxia	Associate	35711425
Inflammation	Associate	22973054, 37264829, 37652141
Ischemia	Associate	35316222
Lung Neoplasms	Associate	36674697
Mammary Analogue Secretory Carcinoma	Associate	27177644
Meconium Ileus	Associate	28420732
Mitochondrial Complex II Deficiency	Associate	21997692
Miyoshi Muscular Dystrophy 3	Associate	20096397
Moyamoya Disease	Associate	37253099
Mucoepidermoid Tumor	Associate	27177644
Mucus Inspissation of Respiratory Tract	Associate	15218996
Muscular Dystrophies	Associate	20096397
Muscular Dystrophy Limb Girdle Type 2L	Associate	20096397
Neoplasm Metastasis	Associate	20664600, 24316695, 25839162, 27750372, 34290570, 37219012, 37264829
Neoplasm Metastasis	Stimulate	37341301
Neoplasms	Associate	21836495, 22912841, 23866066, 24379641, 25009400, 25309096, 25368123, 25541940, 25839162, 25961581, 26498851, 26563938, 26867653, 27016410, 27153560 View all (28 more)
Neoplasms	Stimulate	24316695, 25163766
Neoplasms Cystic Mucinous and Serous	Associate	30520817
Neoplasms Glandular and Epithelial	Stimulate	22460810
Neu Laxova syndrome	Stimulate	34613844
Neurodegenerative Diseases	Associate	31263784
Neuroendocrine Tumors	Associate	25674291
Pain	Associate	35806193
Pancreatic Neoplasms	Associate	30416314, 31182586, 33901011, 34290570, 37170188
Precancerous Conditions	Associate	27016410
Prostatic Neoplasms	Associate	36674697
Pulmonary Disease Chronic Obstructive	Stimulate	38168913
Respiratory Tract Diseases	Associate	38168913
Salivary Duct Calculi	Associate	27177644
Salivary Gland Neoplasms	Associate	22460810, 26464669
Secretory breast carcinoma	Associate	31273600
Squamous Cell Carcinoma of Head and Neck	Associate	20664600, 22912841, 24316695, 25823819, 26498851, 27750372, 29123240, 31790150, 32380794, 35286200, 35361159, 36674697
Squamous Cell Carcinoma of Head and Neck	Stimulate	26563938, 36389709
Squamous Intraepithelial Lesions	Associate	27016410
Stomach Neoplasms	Associate	25839162, 32147682, 34717148
Stroke	Associate	35316222
Tarlov Cysts	Associate	24886289
Vascular Diseases	Associate	33842002

ANO1 (anoctamin 1)