1. Gene
  2. ANO8 - anoctamin 8 Gene

ANO8 - anoctamin 8 Gene

中文名称:茴香胺 8

种属: Homo sapiens

同用名: TMEM16H; KIAA1623

基因 ID: 57719 | 基因类型: protein coding

关于 ANO8

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,323,223-17,334,855 (from NCBI)

This gene has 4 transcripts (splice variants), 257 orthologues and 10 paralogues. Ubiquitous expression in brain (RPKM 8.2), skin (RPKM 5.5) and 25 other tissues.

功能概要

启用细胞内钙激活氯离子通道活性。参与氯离子转运。位于质膜。 [由基因组资源联盟提供,2022 年 4 月]

Enables intracellular calcium activated Chloride Channel activity. Involved in chloride transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ANO8 基因产物(1)

mRNA Protein Name
NM_020959.3 NP_066010.1 anoctamin-8
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables intracellularly calcium-gated chloride channel activity IDA
IDA: 通过直接分析推断
21984732 GOA
enables intracellularly calcium-gated chloride channel activity IMP
IMP: 通过突变表型推断
22946059 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chloride transmembrane transport IMP
IMP: 通过突变表型推断
22946059 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
22946059 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

ANO8 蛋白结构

Anoctamin

Anoctamin: Calcium-activated chloride channel (237 - 880)

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  • 1232 a.a.
蛋白主名 其他名称

anoctamin-8

transmembrane protein 16H

关联疾病

疾病名称 别名
Miyoshi Muscular Dystrophy 3

MMD3

Miyoshi Myopathy 3

Distal Anoctaminopathy

Miyoshi Muscular Dystrophy Type 3

Dystrophy, Muscular, Miyoshi, Type 3

Gnathodiaphyseal Dysplasia

GDD

Osteogenesis Imperfecta With Unusual Skeletal Lesions

Gnathodiaphyseal Sclerosis

Osteogenesis Imperfecta, Levin Type

Levin Syndrome 2

Dysplasia, Gnathodiaphyseal

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

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

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy

Gravidic Intrahepatic Cholestasis

Pregnancy-Related Cholestasis

Icp

Pregnancy Related Cholestasis

Cholestasis, Intrahepatic Of Pregnancy

Familial Intrahepatic Cholestasis Of Pregnancy

Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

Ricp

Obstetric Cholestasis

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
Mus musculus ANO8 MGD MGI:2687327
Felis catus ANO8 VGNC VGNC:59833
Canis familiaris ANO8 VGNC VGNC:37930
Macaca mulatta ANO8 VGNC VGNC:82103
Rattus norvegicus ANO8 RGD RGD:1563946
Bos taurus ANO8 VGNC VGNC:25956