2. Gene
  3. ANO3 - anoctamin 3 Gene

ANO3 - anoctamin 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：茴香胺 3

种属: Homo sapiens

同用名: DYT23; DYT24; TMEM16C; C11orf25; GENX-3947

基因 ID: 63982 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于预测的膜蛋白 TMEM16 家族，也称为 anoctamins。虽然对该基因的功能知之甚少，但该基因的突变与一些常染色体显性颅颈肌张力障碍病例有关。来自具有该基因突变的个体的细胞表现出内质网依赖性钙信号传导异常。对大鼠的研究表明，该蛋白质的大鼠直系同源物与钠激活的钾通道相互作用并调节其活性。该基因的缺失导致大鼠模型系统中疼痛敏感性增加。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 8 月]

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 基因产物(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 蛋白结构

Anoctamin

Anoctamin: Calcium-activated chloride channel (384 - 951)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 981 a.a.
蛋白主名 其他名称

anoctamin-3

dystonia 23

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00743 ANO3 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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