ANO6 - anoctamin 6 Gene

Homo sapiens

Also known as SCTS; BDPLT7; TMEM16F

Gene ID: 196527 | Gene type: protein coding

About ANO6

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:45,216,095-45,440,404 (from NCBI)

This gene has 14 transcripts (splice variants), 199 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 53.4), ovary (RPKM 24.6) and 25 other tissues.

Summary

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

ANO6 Products(5)

mRNA	Protein	Name
NM_001025356.3	NP_001020527.2	anoctamin-6 isoform a
NM_001142678.2	NP_001136150.1	anoctamin-6 isoform b
NM_001142679.2	NP_001136151.1	anoctamin-6 isoform c
NM_001204803.2	NP_001191732.1	anoctamin-6 isoform d
NM_001410973.1	NP_001397902.1	anoctamin-6 isoform e

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables calcium-activated cation channel activity	IDA IDA: Inferred from direct assay	22946059	GOA
enables calcium-activated cation channel activity	IMP IMP: Inferred from mutant phenotype	25651887	GOA
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
enables phospholipid scramblase activity	IMP IMP: Inferred from mutant phenotype	30700552	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25589784	GOA
enables voltage-gated chloride channel activity	IMP IMP: Inferred from mutant phenotype	22006324	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in activation of blood coagulation via clotting cascade	IMP IMP: Inferred from mutant phenotype	21107324	GOA
involved in bleb assembly	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in calcium ion transmembrane transport	IGI IGI: Inferred from genetic interaction	25589784	GOA
involved in chloride transmembrane transport	IGI IGI: Inferred from genetic interaction	25589784	GOA
involved in chloride transmembrane transport	IMP IMP: Inferred from mutant phenotype	22946059	GOA
involved in chloride transport	IMP IMP: Inferred from mutant phenotype	22006324	GOA
involved in negative regulation of cell volume	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in phosphatidylserine exposure on blood platelet	IMP IMP: Inferred from mutant phenotype	21107324	GOA
involved in plasma membrane phospholipid scrambling	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in pore complex assembly	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in positive regulation of bone mineralization	IMP IMP: Inferred from mutant phenotype	25589784	GOA
involved in positive regulation of endothelial cell apoptotic process	IMP IMP: Inferred from mutant phenotype	22006324	GOA
involved in positive regulation of monoatomic ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in positive regulation of monocyte chemotaxis	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in purinergic nucleotide receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	25651887	GOA
involved in sodium ion transmembrane transport	IGI IGI: Inferred from genetic interaction	25589784	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of chloride channel complex	IDA IDA: Inferred from direct assay	22006324	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21107324	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

ANO6 Protein Structure

Anoctamin

0
200
400
600
800
910 a.a.

Protein Preferred Names

Protein Names

anoctamin-6

SCAN channel

Related Diseases

Diseases

Alias

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

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

Miyoshi Muscular Dystrophy 3

MMD3	Miyoshi Myopathy 3
Distal Anoctaminopathy	Miyoshi Muscular Dystrophy Type 3
Dystrophy, Muscular, Miyoshi, Type 3

Bleeding Disorder, Platelet-Type, 11

BDPLT11	Glycoprotein Vi Deficiency
Gp Vi Deficiency	Platelet-Type Bleeding Disorder 11
Bleeding Diathesis Due To A Collagen Receptor Defect	Bleeding Diathesis Due To Glycoprotein Vi Deficiency
Platelet-Type Bleeding Disorder-11	Bleeding Disorder, Platelet Type 11
Hemorrhage

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive	Autosomal Recessive Centronuclear Myopathy
CNM2	Centronuclear Myopathy 2
Ar-Cnm	Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy	Centronuclear Myopathy Autosomal Recessive
Myopathy, Centronuclear, Type 2

Diamond-Blackfan Anemia 1

Aase Syndrome	DBA1
Erythrogenesis Imperfecta	Aase-Smith Syndrome Ii
Dba	Blackfan-Diamond Syndrome
Bds	Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
Anemia, Congenital Erythroid Hypoplastic	Red Cell Aplasia, Pure, Hereditary
Aregenerative Anemia, Chronic Congenital	Rps19-Related Diamond-Blackfan Anemia
Chronic Congenital Aregenerative Anemia	Congenital Erythroid Hypoplastic Anemia
Congenital Hypoplastic Anemia Of Blackfan And Diamond	Pure Hereditary Red Cell Aplasia
Anemia, Diamond-Blackfan, Type 1	Anemia, Diamond-Blackfan
Aase Smith Syndrome 2	Familial Hypoplastic Anaemia With Malformations
Constitutional Pure Red Cell Aplasia

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-164139	Antiviral agent 57	Inhibitor	98.10%	Unkown
HY-RS00746	ANO6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ANO6	VGNC	VGNC:59831
Bos taurus	ANO6	VGNC	VGNC:25955
Macaca mulatta	ANO6	VGNC	VGNC:69902
Rattus norvegicus	ANO6	RGD	RGD:1304765
Mus musculus	ANO6	MGD	MGI:2145890
Canis familiaris	ANO6	VGNC	VGNC:37929

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