ANO10 - anoctamin 10 Gene

Also Known as SCAR10; TMEM16K

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55129

About ANO10

Cytogenetic location: 3p22.1-p21.33 Genomic coordinates (GRCh38): 3:43,365,848-43,691,594 (from NCBI)

This gene has 17 transcripts (splice variants), 215 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 19.4), small intestine (RPKM 16.9) and 25 other tissues.

Summary

The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

ANO10 Products (12)

mRNA Protein Name
NM_001204831.3 NP_001191760.1 anoctamin-10 isoform 2
NM_001204832.3 NP_001191761.1 anoctamin-10 isoform 3
NM_001204833.3 NP_001191762.1 anoctamin-10 isoform 4
NM_001204834.3 NP_001191763.1 anoctamin-10 isoform 5
NM_001346463.2 NP_001333392.1 anoctamin-10 isoform 6
NM_001346464.2 NP_001333393.1 anoctamin-10 isoform 7
NM_001346465.2 NP_001333394.1 anoctamin-10 isoform 8
NM_001346466.2 NP_001333395.1 anoctamin-10 isoform 3
NM_001346467.2 NP_001333396.1 anoctamin-10 isoform 7
NM_001346468.2 NP_001333397.1 anoctamin-10 isoform 1
NM_001346469.2 NP_001333398.1 anoctamin-10 isoform 3
NM_018075.5 NP_060545.3 anoctamin-10 isoform 1
Molecular Function GO Annotation Evidence References Source
enables calcium-activated cation channel activity IDA
IDA: Inferred from direct assay
22946059 GOA
NOT enables intracellularly calcium-gated chloride channel activity IDA
IDA: Inferred from direct assay
21984732 GOA
enables intracellularly calcium-gated chloride channel activity IDA
IDA: Inferred from direct assay
22946059 GOA
Biological Process GO Annotation Evidence References Source
involved in chloride transmembrane transport IDA
IDA: Inferred from direct assay
22946059 GOA
Cellular Component GO Annotation Evidence References Source
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

ANO10 Protein Structure

Anoctamin

Anoctamin: Calcium-activated chloride channel (200 - 628)

  • 0
  • 200
  • 400
  • 600
  • 660 a.a.
Protein Preferred Names Protein Names

anoctamin-10

  • transmembrane protein 16K

Related Diseases

Diseases Alias
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

Autosomal Recessive Cerebellar Ataxia
  • Arca

Chanarin-Dorfman Syndrome
  • Neutral Lipid Storage Disease

  • CDS

  • Neutral Lipid Storage Disease With Ichthyosis

  • Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

  • Triglyceride Storage Disease With Ichthyosis

  • Nlsdi

  • Ichthyotic Neutral Lipid Storage Disease

  • Dorfman-Chanarin Syndrome

  • Dcs

  • Chanarin-Dorfman Disease

  • Ichthyosiform Erythroderma With Leukocyte Vacuolation

  • Lipidosis With Triglyceride Storage Disease

  • Disorder Of Cornification 12

  • Dorfman Chanarin Syndrome

  • Neutral Lipid Storage Disease With Ichthyotic

  • Dorfman-Chanarin Disease

Spinocerebellar Ataxia 10
  • Spinocerebellar Ataxia Type 10

  • SCA10

  • Spinocerebellar Ataxia-10

  • Ataxia, Spinocerebellar, Type 10

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
  • PEOA1

  • Autosomal Dominant Progressive External Ophthalmoplegia 1

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1

  • Chronic Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia, Autosomal Dominant 1

  • Cpeo

  • Graefe Disease

  • Mitochondrial Ocular Myopathy

  • Ocular Myopathy Of Von Graefe-Fuchs

  • Progressive External Ophthalmoplegia Autosomal Dominant

  • Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1

  • Kearns-Sayre Syndrome

Miyoshi Muscular Dystrophy 3
  • MMD3

  • Miyoshi Myopathy 3

  • Distal Anoctaminopathy

  • Miyoshi Muscular Dystrophy Type 3

  • Dystrophy, Muscular, Miyoshi, Type 3

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

Spastic Paraplegia 7, Autosomal Recessive
  • SPG7

  • Hereditary Spastic Paraplegia 7

  • Spastic Paraplegia Type 7

  • Spastic Paraplegia 7

  • Hereditary Spastic Paraplegia, Paraplegin Type

  • Autosomal Recessive Spastic Paraplegia 7

  • Hereditary Spastic Paraplegia Paraplegin Type

  • Spastic Paraplegia-7

  • Paraplegia, Spastic, Autosomal Recessive, Type 7

  • Spastic Paraplegia, Hereditary

  • Autosomal Recessive Hereditary Spastic Paraplegia

Gnathodiaphyseal Dysplasia
  • GDD

  • Osteogenesis Imperfecta With Unusual Skeletal Lesions

  • Gnathodiaphyseal Sclerosis

  • Osteogenesis Imperfecta, Levin Type

  • Levin Syndrome 2

  • Dysplasia, Gnathodiaphyseal

Intellectual Developmental Disorder, Autosomal Dominant 43
  • MRD43

  • Autosomal Dominant Non-Syndromic Intellectual Disability 43

  • Autosomal Dominant Intellectual Developmental Disorder 43

  • Autosomal Dominant Mental Retardation 43

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
  • Aoa2

  • Ataxia With Oculomotor Apraxia Type 2

  • Scar1

  • SCAN2

  • Ataxia-Oculomotor Apraxia 2

  • Ataxia-Ocular Apraxia 2

  • Ataxia-Oculomotor Apraxia Type 2

  • Scan 2

  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2

  • Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly

  • Scar1, Formerly

  • Autosomal Recessive Spinocerebellar Ataxia-1

  • Spinocerebellar Ataxia, Autosomal Recessive, 1

  • Ataxia-Ocular Apraxia-2

  • Spinocerebellar Ataxia, Autosomal Recessive 1

Macular Dystrophy, Patterned, 2
  • Patterned Macular Dystrophy 2

  • MDPT2

  • Macular Dystrophy, Butterfly-Shaped Pigmentary, 2

  • Butterfly-Shaped Pigmentary Maculary Dystrophy 2

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
  • Aoa1

  • Ataxia-Telangiectasia-Like Disorder

  • EAOH

  • Eoca-Ha

  • Ataxia With Oculomotor Apraxia Type 1

  • Ataxia-Oculomotor Apraxia 1

  • Ataxia-Oculomotor Apraxia Syndrome

  • AOA

  • Ataxia-Telangiectasia-Like Syndrome

  • Ataxia-Oculomotor Apraxia Type 1

  • Ataxia With Oculomotor Apraxia

  • Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia

  • Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia

  • Early-Onset Cerebellar Ataxia With Hypoalbuminemia

  • Adult Onset Ataxia With Oculomotor Apraxia

  • Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia

  • Scan2

  • Scar1

  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2

  • Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

  • Atld

  • Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia

  • Cerebellar Ataxia Early-Onset With Hypoalbuminemia

  • Ataxia-Oculomotor Apraxia

  • Spinocerebellar Ataxia, Autosomal Recessive 1

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Autosomal Dominant Cerebellar Ataxia
  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias

Episodic Ataxia
  • Isaacs Syndrome

  • Neuromyotonia

  • Isaacs' Syndrome

  • Acquired Neuromyotonia

  • Continuous Muscle Fiber Activity Syndrome

  • Quantal Squander Syndrome

  • Isaacs-Mertens Syndrome

  • Ea Syndrome

  • Episodic Ataxia Syndrome

  • Isaac Syndrome

  • Isaac'S-Merten'S Syndrome

  • Isaac-Mertens Syndrome

  • Peripheral Nerve Hyperexcitability

  • Ea

  • Peripheral Nerve Hyperexcitability Syndrome

  • Ataxia, Episodic

  • Isaacs Neuromyotonia

  • Continuous Muscle Fibre Activity

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

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
Rattus norvegicus ANO10 RGD RGD:1308260
Mus musculus ANO10 MGD MGI:2143103
Bos taurus ANO10 VGNC VGNC:54405
Macaca mulatta ANO10 VGNC VGNC:69696
Canis familiaris ANO10 VGNC VGNC:37924
Felis catus ANO10 VGNC VGNC:59828
Others ANO10 NCBI