1. Gene
  2. ANO2 - anoctamin 2 Gene

ANO2 - anoctamin 2 Gene

Homo sapiens

Also known as C12orf3; TMEM16B

Gene ID: 57101 | Gene type: protein coding

About ANO2

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:5,562,655-5,946,232 (from NCBI)

This gene has 12 transcripts (splice variants), 294 orthologues and 10 paralogues. Low expression observed in reference dataset.

Summary

ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]

ANO2 Products(3)

mRNA Protein Name
NM_001278596.3 NP_001265525.1 anoctamin-2 isoform 1
NM_001278597.3 NP_001265526.1 anoctamin-2 isoform 2
NM_001364791.2 NP_001351720.1 anoctamin-2 isoform 3

ANO2 Protein Structure

Anoctamin

Anoctamin: Calcium-activated chloride channel (348 - 939)

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  • 999 a.a.
Protein Preferred Names Protein Names

anoctamin-2

anoctamin 2, calcium activated chloride channel

Related Diseases

Diseases Alias
Von Willebrand Disease, Type 3

Von Willebrand Disease Type 3

VWD3

Von Willebrand'S Disease 3

Von Willebrand Disease Type Iii

Von Willebrand Disease, Type Iii

Vwd, Type 3

Vwd Type 3

Von Willebrand Disease 3

Von Willebrand Disease Recessive Form

Von Willebrand Factor Deficiency Type 3

Gnathodiaphyseal Dysplasia

GDD

Osteogenesis Imperfecta With Unusual Skeletal Lesions

Gnathodiaphyseal Sclerosis

Osteogenesis Imperfecta, Levin Type

Levin Syndrome 2

Dysplasia, Gnathodiaphyseal

Miyoshi Muscular Dystrophy 3

MMD3

Miyoshi Myopathy 3

Distal Anoctaminopathy

Miyoshi Muscular Dystrophy Type 3

Dystrophy, Muscular, Miyoshi, Type 3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

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

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

Distal Myopathy

Distal Muscular Dystrophy

Miyoshi Myopathy

Distal Myopathies

Dystrophy, Muscular, Miyoshi

Myopathy, Distal

Distal Muscular Dystrophies

Panic Disorder

Panic Anxiety Syndrome

Panic

Panic Disorder 1

Episodic Paroxysmal Anxiety Disorder

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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
Bos taurus ANO2 VGNC VGNC:25951
Felis catus ANO2 VGNC VGNC:59829
Mus musculus ANO2 MGD MGI:2387214
Rattus norvegicus ANO2 RGD RGD:1591606
Canis familiaris ANO2 VGNC VGNC:37925