1. Gene
  2. ANO2 - anoctamin 2 Gene

ANO2 - anoctamin 2 Gene

中文名称:茴香胺 2

种属: Homo sapiens

同用名: C12orf3; TMEM16B

基因 ID: 57101 | 基因类型: protein coding

关于 ANO2

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:5,562,655-5,946,232 (from NCBI)

This gene has 12 transcripts (splice variants), 294 orthologues and 10 paralogues. Low expression observed in reference dataset.

功能概要

ANO2 属于钙激活氯离子通道 (CaCC) 家族 (由 Hartzell 等人审查,2009 [PubMed 19015192]) 。[OMIM 提供,2011 年 1 月]

ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]

ANO2 基因产物(3)

mRNA Protein Name
NM_001278596.3 NP_001265525.1 anoctamin-2 isoform 1
NM_001278597.3 NP_001265526.1 anoctamin-2 isoform 2
NM_001364791.2 NP_001351720.1 anoctamin-2 isoform 3
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables intracellularly calcium-gated chloride channel activity IDA
IDA: 通过直接分析推断
19474308 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
30126976 GOA
enables protein dimerization activity IDA
IDA: 通过直接分析推断
23576756 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ANO2 蛋白结构

Anoctamin

Anoctamin: Calcium-activated chloride channel (348 - 939)

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

anoctamin-2

anoctamin 2, calcium activated chloride channel

关联疾病

疾病名称 别名
Von Willebrand Disease, Type 3

Von Willebrand Disease Type 3

VWD3

Von Willebrand'S Disease 3

Von Willebrand Disease Type Iii

Von Willebrand Disease, Type Iii

Vwd, Type 3

Vwd Type 3

Von Willebrand Disease 3

Von Willebrand Disease Recessive Form

Von Willebrand Factor Deficiency Type 3

Gnathodiaphyseal Dysplasia

GDD

Osteogenesis Imperfecta With Unusual Skeletal Lesions

Gnathodiaphyseal Sclerosis

Osteogenesis Imperfecta, Levin Type

Levin Syndrome 2

Dysplasia, Gnathodiaphyseal

Miyoshi Muscular Dystrophy 3

MMD3

Miyoshi Myopathy 3

Distal Anoctaminopathy

Miyoshi Muscular Dystrophy Type 3

Dystrophy, Muscular, Miyoshi, Type 3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

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

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

Miyoshi Muscular Dystrophy

Distal Myopathy

Distal Muscular Dystrophy

Miyoshi Myopathy

Distal Myopathies

Dystrophy, Muscular, Miyoshi

Myopathy, Distal

Distal Muscular Dystrophies

Panic Disorder

Panic Anxiety Syndrome

Panic

Panic Disorder 1

Episodic Paroxysmal Anxiety Disorder

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus ANO2 VGNC VGNC:25951
Felis catus ANO2 VGNC VGNC:59829
Mus musculus ANO2 MGD MGI:2387214
Rattus norvegicus ANO2 RGD RGD:1591606
Canis familiaris ANO2 VGNC VGNC:37925