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	63982
Gene name	Anoctamin 3
Gene symbol	ANO3
Synonyms (NCBI Gene)	C11orf25DYT23DYT24GENX-3947TMEM16C
Chromosome	11
Chromosome location	11p14.3-p14.2
Summary	The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosoma

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776923	A>G	Pathogenic	Coding sequence variant, missense variant
rs869312951	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1277790116	G>T	Pathogenic	Coding sequence variant, missense variant
rs1478393931	G>A	Likely-pathogenic	Missense variant, coding sequence variant

102

Show/Hide all (102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017573	hsa-miR-335-5p	Microarray	18185580
MIRT050061	hsa-miR-26a-5p	CLASH	23622248
MIRT044970	hsa-miR-186-5p	CLASH	23622248
MIRT040750	hsa-miR-18a-3p	CLASH	23622248
MIRT785669	hsa-miR-103a	CLIP-seq
MIRT785670	hsa-miR-107	CLIP-seq
MIRT785671	hsa-miR-1179	CLIP-seq
MIRT785672	hsa-miR-125a-5p	CLIP-seq
MIRT785673	hsa-miR-125b	CLIP-seq
MIRT785674	hsa-miR-15a	CLIP-seq
MIRT785675	hsa-miR-15b	CLIP-seq
MIRT785676	hsa-miR-16	CLIP-seq
MIRT785677	hsa-miR-195	CLIP-seq
MIRT785678	hsa-miR-19a	CLIP-seq
MIRT785679	hsa-miR-19b	CLIP-seq
MIRT785680	hsa-miR-2054	CLIP-seq
MIRT785681	hsa-miR-3668	CLIP-seq
MIRT785682	hsa-miR-3672	CLIP-seq
MIRT785683	hsa-miR-380	CLIP-seq
MIRT785684	hsa-miR-382	CLIP-seq
MIRT785685	hsa-miR-410	CLIP-seq
MIRT785686	hsa-miR-424	CLIP-seq
MIRT740060	hsa-miR-4287	CLIP-seq
MIRT785687	hsa-miR-4310	CLIP-seq
MIRT785688	hsa-miR-4319	CLIP-seq
MIRT785689	hsa-miR-4324	CLIP-seq
MIRT785690	hsa-miR-4329	CLIP-seq
MIRT785691	hsa-miR-4463	CLIP-seq
MIRT785692	hsa-miR-4469	CLIP-seq
MIRT785693	hsa-miR-4509	CLIP-seq
MIRT740059	hsa-miR-4685-3p	CLIP-seq
MIRT740058	hsa-miR-4704-3p	CLIP-seq
MIRT785694	hsa-miR-4732-3p	CLIP-seq
MIRT785695	hsa-miR-4775	CLIP-seq
MIRT740064	hsa-miR-4803	CLIP-seq
MIRT785696	hsa-miR-497	CLIP-seq
MIRT740063	hsa-miR-548a-3p	CLIP-seq
MIRT740062	hsa-miR-548e	CLIP-seq
MIRT740061	hsa-miR-548f	CLIP-seq
MIRT785697	hsa-miR-548m	CLIP-seq
MIRT785698	hsa-miR-587	CLIP-seq
MIRT785699	hsa-miR-653	CLIP-seq
MIRT785700	hsa-miR-670	CLIP-seq
MIRT785701	hsa-miR-891b	CLIP-seq
MIRT1931769	hsa-miR-1208	CLIP-seq
MIRT1931770	hsa-miR-1299	CLIP-seq
MIRT1931771	hsa-miR-2052	CLIP-seq
MIRT1931772	hsa-miR-25	CLIP-seq
MIRT1931773	hsa-miR-28-3p	CLIP-seq
MIRT1931774	hsa-miR-3148	CLIP-seq
MIRT1931775	hsa-miR-3190	CLIP-seq
MIRT1931776	hsa-miR-32	CLIP-seq
MIRT1931777	hsa-miR-340	CLIP-seq
MIRT1931778	hsa-miR-361-5p	CLIP-seq
MIRT1931779	hsa-miR-363	CLIP-seq
MIRT1931780	hsa-miR-367	CLIP-seq
MIRT1931781	hsa-miR-3910	CLIP-seq
MIRT1931782	hsa-miR-3919	CLIP-seq
MIRT1931783	hsa-miR-3978	CLIP-seq
MIRT1931784	hsa-miR-4325	CLIP-seq
MIRT1931785	hsa-miR-452	CLIP-seq
MIRT1931786	hsa-miR-4676-3p	CLIP-seq
MIRT1931787	hsa-miR-4735-5p	CLIP-seq
MIRT1931788	hsa-miR-4756-3p	CLIP-seq
MIRT1931789	hsa-miR-4781-3p	CLIP-seq
MIRT1931790	hsa-miR-563	CLIP-seq
MIRT1931791	hsa-miR-92a	CLIP-seq
MIRT1931792	hsa-miR-92b	CLIP-seq
MIRT1931771	hsa-miR-2052	CLIP-seq
MIRT2172244	hsa-miR-299-3p	CLIP-seq
MIRT2172245	hsa-miR-3119	CLIP-seq
MIRT1931777	hsa-miR-340	CLIP-seq
MIRT1931778	hsa-miR-361-5p	CLIP-seq
MIRT1931781	hsa-miR-3910	CLIP-seq
MIRT1931782	hsa-miR-3919	CLIP-seq
MIRT2172246	hsa-miR-4474-3p	CLIP-seq
MIRT2172247	hsa-miR-4491	CLIP-seq
MIRT2172248	hsa-miR-450b-5p	CLIP-seq
MIRT2172249	hsa-miR-4657	CLIP-seq
MIRT2172250	hsa-miR-4659a-3p	CLIP-seq
MIRT2172251	hsa-miR-4659b-3p	CLIP-seq
MIRT2172252	hsa-miR-4753-3p	CLIP-seq
MIRT1931788	hsa-miR-4756-3p	CLIP-seq
MIRT2172253	hsa-miR-502-5p	CLIP-seq
MIRT2172254	hsa-miR-507	CLIP-seq
MIRT2172255	hsa-miR-518a-5p	CLIP-seq
MIRT2172256	hsa-miR-527	CLIP-seq
MIRT2172257	hsa-miR-557	CLIP-seq
MIRT2435351	hsa-miR-4795-3p	CLIP-seq
MIRT2435352	hsa-miR-656	CLIP-seq
MIRT785669	hsa-miR-103a	CLIP-seq
MIRT785670	hsa-miR-107	CLIP-seq
MIRT785671	hsa-miR-1179	CLIP-seq
MIRT2475120	hsa-miR-3944-5p	CLIP-seq
MIRT785687	hsa-miR-4310	CLIP-seq
MIRT2475121	hsa-miR-7	CLIP-seq
MIRT785669	hsa-miR-103a	CLIP-seq
MIRT785670	hsa-miR-107	CLIP-seq
MIRT785671	hsa-miR-1179	CLIP-seq
MIRT2475120	hsa-miR-3944-5p	CLIP-seq
MIRT785687	hsa-miR-4310	CLIP-seq
MIRT2475121	hsa-miR-7	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	21984732
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	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016048	Process	Detection of temperature stimulus	IEA
GO:0017128	Function	Phospholipid scramblase activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050982	Process	Detection of mechanical stimulus	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0061590	Process	Calcium activated phosphatidylcholine scrambling	IEA
GO:0061591	Process	Calcium activated galactosylceramide scrambling	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA

MIM	HGNC	e!Ensembl
610110	14004	ENSG00000134343

Q9BYT9

Protein name

Anoctamin-3 (Transmembrane protein 16C)

Protein function

Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16178	Anoct_dimer	156 → 381	Dimerisation domain of Ca+-activated chloride-channel, anoctamin	Family
PF04547	Anoctamin	384 → 949	Calcium-activated chloride channel	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the forebrain striatum. {ECO:0000269|PubMed:23200863}.

Sequence

MVHHSGSIQSFKQQKGMNISKSEITKETSLKPSRRSLPCLAQSYAYSKSLSQSTSLFQST
ESESQAPTSITLISTDKAEQVNTEENKNDSVLRCSFADLSDFCLALGKDKDYTDESEHAT
YDRSRLINDFVIKDKSEFKTKLSKNDMNYIASSGPLFKDGKKRIDYILVYRKTNIQYDKR
NTFEKNLRAEGLMLEKEPAIASPDIMFIKIHIPWDTLCKYAERLNIRMPFRKKCYYTDGR
SKSMGRMQTYFRRIKNWMAQNPMVLDKSAFPDLEESDCYTGPFSRARIHHFIINNKDTFF
SNATRSRIVYHMLERTKYENGISKVGIRKLINNGSYIAAFPPHEGAYKSSQPIKTHGPQN
NRHLLYERWARWGMWYKHQPLDLIRLYFGEKIGLYFAWLGWYTGMLIPAAIVGLCVFFYG
LFTMNNSQVSQEICKATEVFMCPLCDKNCSLQRLNDSCIYAKVTYLFDNGGTVFFAIFMA
IWATVFLEFWKRRRSILTYTWDLIEWEEEEETLRPQFEAKYYKMEIVNPITGKPEPHQPS
SDKVTRLLVSVSGIFFMISLVITAVFGVVVYRLVVMEQFASFKWNFIKQYWQFATSAAAV
CINFIIIMLLNLAYEKIAYLLTNLEYPRTESEWENSFALKMFLFQFVNLNSSIFYIAFFL
GRFVGHPGKYNKLFDRWRLEECHPSGCLIDLCLQMGVIMFLKQIWNNFMELGYPLIQNWW
SRHKIKRGIHDASIPQWENDWNLQPMNLHGLMDEYLEMVLQFGFTTIFVAAFPLAPLLAL
LNNIIEIRLDAYKFVTQWRRPLPARATDIGIWLGILEGIGILAVITNAFVIAITSDYIPR
FVYEYKYGPCANHVEPSENCLKGYVNNSLSFFDLSELGMGKSGYCRYRDYRGPPWSSKPY
EFTLQYWHILAARLAFIIVFEHLVFGIKSFIAYLIPDVPKGLHDRIRREKYLVQEMMYEA
ELEHLQQQRRKSGQPVHHEWP

Sequence length

981

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis		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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dystonia 24	Pathogenic; Likely pathogenic	rs587776922, rs1565132917, rs587776923, rs1277790116, rs1554976234, rs1590612392, rs1590658782, rs1478393931	RCV000032692 RCV000032693 RCV000032694 RCV000032695 RCV005253001 RCV000995494 RCV003336201 RCV000995495 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonic disorder	Pathogenic; Likely pathogenic	rs2538991883, rs2132929609, rs1590612392, rs1590658782, rs1478393931	RCV003072844 RCV003747211 RCV000795317 RCV000807199 RCV005093001	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (26)

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	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANO3-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIO-CERVICAL DYSTONIA WITH LARYNGEAL AND UPPER LIMB INVOLVEMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIO-CERVICAL DYSTONIA WITH LARYNGEAL AND UPPER-LIMB INVOLVEMENT	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FEBRILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	22273362	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29274321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22657408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	33557955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	Pubtator	27919237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39930364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranio-cervical dystonia with laryngeal and upper-limb involvement	Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	36430572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	27919237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	23200863, 24442708, 27919237, 33557955, 35925398	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 24	Dystonia	GENOMICS_ENGLAND_DG	23200863, 24442708, 27392807		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 24	Dystonia	ORPHANET_DG	23200863		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 24	Dystonia	UNIPROT_DG	23200863		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 24	Dystonia	BEFREE	24442708		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 24	Dystonia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonia Disorders	Dystonia	BEFREE	23200863, 24262166, 24442708, 27919237, 29396174, 30712998		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Musculorum Deformans	Dystonia	BEFREE	24151159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	24151159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	22657408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	24442708, 27881096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	CTD_human_DG	25344690		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	GWASCAT_DG	25344690		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperkinesis	Hyperkinesia	Pubtator	27919237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31058715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31058715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	33557955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	30712998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30712998		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	30712998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35806193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	BEFREE	24151159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35513865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Complex	Seizure	CTD_human_DG	25344690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Simple	Seizure	CTD_human_DG	25344690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33557955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ANO3 (anoctamin 3)