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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	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	Références	Source
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	22946059	GOA

Cellular Component GO Annotation	Evidence	Références	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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS16254	Ano10 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00741	ANO10 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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