1. Gene
  2. ANO8 - anoctamin 8 Gene

ANO8 - anoctamin 8 Gene

Homo sapiens

Also known as TMEM16H; KIAA1623

Gene ID: 57719 | Gene type: protein coding

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

ANO8 Protein Structure

Anoctamin

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

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  • 1232 a.a.
Protein Preferred Names Protein Names

anoctamin-8

transmembrane protein 16H

Related Diseases

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

Orthologs Information

Species Symbol Source 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