ANO3 - anoctamin 3 Gene

Also Known as DYT23; DYT24; TMEM16C; C11orf25; GENX-3947

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 63982

About ANO3

Cytogenetic location: 11p14.3-p14.2 Genomic coordinates (GRCh38): 11:26,188,808-26,663,289 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues, 10 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 4.4), fat (RPKM 2.2) and 7 other tissues.

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 autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated Potassium Channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

ANO3 Products (3)

mRNA	Protein	Name
NM_001313726.2	NP_001300655.1	anoctamin-3 isoform 1
NM_001313727.2	NP_001300656.1	anoctamin-3 isoform 3
NM_031418.4	NP_113606.2	anoctamin-3 isoform 2

ANO3 Protein Structure

Anoctamin

0
200
400
600
800
981 a.a.

Protein Preferred Names	Protein Names
anoctamin-3	dystonia 23

Related Diseases

Diseases	Alias
Dystonia 24	DYT24 Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement Dystonia-24 Dystonia, Type 24
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Focal Dystonia	Dystonia, Focal, Task-Specific
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Spinocerebellar Ataxia, Autosomal Recessive 10	SCAR10 Autosomal Recessive Spinocerebellar Ataxia 10 Adult-Onset Autosomal Recessive Cerebellar Ataxia Autosomal Recessive Spinocerebellar Ataxia Type 10 Spinocerebellar Ataxia, Autosomal Recessive, 10 Ataxia, Spinocerebellar, Autosomal Recessive, Type 10
Dystonia 23	DYT23 Adult-Onset Cervical Dystonia, Dyt23 Type Dystonia, Type 23
Segmental Dystonia
Torsion Dystonia 2	Dystonia 2, Torsion, Autosomal Recessive
Spasmodic Dystonia	Laryngeal Dystonia
Cervical Dystonia	Spasmodic Torticollis
Dystonia 25	DYT25 Dystonia-25 Dystonia, Type 25
Torsion Dystonia 4
Dystonia 1, Torsion, Autosomal Dominant	Dystonia Musculorum Deformans 1 Dystonia Musculorum Deformans DYT1 Early-Onset Torsion Dystonia Eotd Dystonia-1, Torsion Torsion Dystonia 1 Autosomal Dominant Torsion Dystonia 1 Dystonia-1 Oppenheim'S Dystonia Oppenheim-Ziehen Disease Early Onset Torsion Dystonia Dystonia 3, Torsion, X-Linked
Oromandibular Dystonia
Essential Tremor	Benign Essential Tremor Familial Tremor Hereditary Essential Tremor Essential Hereditary Tremor Shaky Hand Syndrome Benign Essential Tremor Syndrome Tremor Hereditary Essential Essential Tremor, Susceptibility To Tremor, Hereditary Essential
Dystonia 11, Myoclonic	Myoclonic Dystonia Myoclonus-Dystonia Syndrome DYT11 Myoclonic Dystonia 11 Alcohol-Responsive Dystonia Myoclonus, Hereditary Essential Dystonia-11, Myoclonic Myoclonus-Dystonia Dystonia 11 Hereditary Essential Myoclonus Dystonia, Alcohol-Responsive Dyt-Sgce Dystonia, Alcohol Responsive Dystonia-11 Dystonia, Myoclonic Dystonia, Myoclonic, Type 11
Blepharospasm
Dystonia 27	DYT27 Primary Dystonia, Dyt27 Type Dystonia, Type 27
Focal Hand Dystonia	Organic Writer'S Cramp Dystonia, Focal, Task-Specific
Multifocal Dystonia
Scott Syndrome	SCTS Bdplt7 Prothrombin Consumption Deficiency Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X Bleeding Disorder, Platelet-Type, 7 Prothrombin Conversion Defect, Familial Prothrombin Consumption Inhibitor, Familial Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X Familial Prothrombin Consumption Inhibitor Familial Prothrombin Conversion Defect Platelet-Type Bleeding Disorder 7 Platelet Factor X Receptor Deficiency Bleeding Disorder Platelet-Type 7 Prothrombin Consumption Inhibitor Familial Prothrombin Conversion Defect Familial
Leukodystrophy, Hypomyelinating, 6	Habc Hypomyelinating Leukodystrophy 6 HLD6 H-Abc Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum HLD Leukodystrophy, Hypomyelinating, Type 6
Gnathodiaphyseal Dysplasia	GDD Osteogenesis Imperfecta With Unusual Skeletal Lesions Gnathodiaphyseal Sclerosis Osteogenesis Imperfecta, Levin Type Levin Syndrome 2 Dysplasia, Gnathodiaphyseal
Hereditary Lymphedema Ii	Meige Syndrome Meige Disease Meige Lymphedema Hereditary Lymphedema Type Ii Lymphedema Hereditary Type 2 Lymphedema Praecox Lymphedema, Hereditary, Ii Blepharospasm-Oromandibular Dystonia Syndrome Meige Dystonia Meige'S Syndrome Late-Onset Lymphedema Lmph2 Lymphedema Preacox Lymphedema, Late-Onset Blepharospasm - Oromandibular Dystonia Blepharospasm-Oromandibular Dystonia Brueghel Syndrome Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome Oral Facial Dystonia Segmental Cranial Dystonia Meigs Syndrome
Lymphatic Malformation 5	Meige Syndrome Meige Disease Meige Lymphedema Lymphedema Praecox Lymphedema, Late-Onset Late-Onset Lymphedema LMPH2 Meigs Syndrome LMPHM5 Lymphedema, Hereditary, Ii, Formerly Lmph2, Formerly Hereditary Lymphedema Ii Demons-Meigs Syndrome Hereditary Lymphedema Type Ii Lymphedema, Hereditary, 2 Lymphedema, Hereditary, Ii Meige'S Disease
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Hemidystonia
Movement Disease	Movement Disorders Movement Disorder
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia Type 10 SCA10 Spinocerebellar Ataxia-10 Ataxia, Spinocerebellar, Type 10

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00743	ANO3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ANO3	VGNC	VGNC:37926
Mus musculus	ANO3	MGD	MGI:3613666
Bos taurus	ANO3	VGNC	VGNC:25952
Rattus norvegicus	ANO3	RGD	RGD:1308873
Macaca mulatta	ANO3	VGNC	VGNC:69609
Felis catus	ANO3	VGNC	VGNC:81901
Others	ANO3	NCBI