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

407

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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
Dystonic disorder	Pathogenic; Likely pathogenic	rs2538991883, rs2132929609, rs1590612392, rs1590658782, rs1478393931	RCV003072844 RCV003747211 RCV000795317 RCV000807199 RCV005093001

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs117975000	RCV005917616
ANO3-related disorder	Benign; Uncertain significance; Likely benign	rs767864233, rs752713688, rs996483030, rs767978030, rs757843636, rs146532706, rs202169392, rs150506041, rs77422010, rs374120345, rs149866447	RCV003898338 RCV003976261 RCV003420695 RCV003956612 RCV003899590 RCV003902660 RCV003912819 RCV003942505 RCV003925577 RCV003948077 RCV003908172
Clear cell carcinoma of kidney	Likely benign	rs140279191	RCV005926273
Hereditary ataxia	Uncertain significance	rs747630235	RCV005626748
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs72881793	RCV005914616
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs72881793	RCV005914618
Sarcoma	Benign; Likely benign	rs72881793	RCV005914617
See cases	Conflicting classifications of pathogenicity	rs2132929609	RCV002275380
Thymoma	Likely benign	rs117975000	RCV005917617
Uterine carcinosarcoma	Benign	rs57264690	RCV005924803

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	22273362
Anterior polar cataract 2	Associate	27919237
Blast Crisis	Associate	33557955
Blepharospasm	Associate	27919237
Colorectal Neoplasms	Associate	39930364
Diabetic Neuropathies	Associate	36430572
Dysarthria	Associate	27919237
Dystonia	Associate	23200863, 24442708, 27919237, 33557955, 35925398
Hyperkinesis	Associate	27919237
Lupus Erythematosus Systemic	Associate	31058715
Motor Neuron Disease	Associate	33557955
Peripheral Nervous System Diseases	Associate	35806193
Pulmonary Disease Chronic Obstructive	Associate	35513865
Seizures	Associate	33557955
Small Fiber Neuropathy	Associate	36430572
Tics	Associate	27919237
Torticollis	Associate	23200863
Trauma Nervous System	Associate	23200863, 24442708, 27919237

ANO3 (anoctamin 3)