ANO8 - anoctamin 8 Gene

Also Known as TMEM16H; KIAA1623

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 57719

About 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.

Summary

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

ANO8 Products (1)

mRNA	Protein	Name
NM_020959.3	NP_066010.1	anoctamin-8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
NOT enables intracellularly calcium-gated chloride channel activity	IDA IDA: Inferred from direct assay	21984732	GOA
enables intracellularly calcium-gated chloride channel activity	IMP IMP: Inferred from mutant phenotype	22946059	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in chloride transmembrane transport	IMP IMP: Inferred from mutant phenotype	22946059	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in plasma membrane	IDA IDA: Inferred from direct assay	22946059	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANO8 Protein Structure

Anoctamin

0
200
400
600
800
1000
1232 a.a.

Protein Preferred Names	Protein Names
anoctamin-8	transmembrane protein 16H

関連疾患

Diseases	Alias
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

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS00748	ANO8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	ANO8	NCBI