ANO3 - anoctamin 3 Gene

Homo sapiens

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

Gene ID: 63982 | Gene type: protein coding

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

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