ANO6 - anoctamin 6 Gene

Also Known as SCTS; BDPLT7; TMEM16F

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 196527

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 References 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 References 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 References 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

Anoctamin: Calcium-activated chloride channel (287 - 872)

  • 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

Pre-clinical Phase

Bioactive Molecules (4)
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 Set / Unkown
HY-RS20248 Ano6 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26756 Ano6 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others ANO6 NCBI