ANO2 (anoctamin 2)

2014-08-01 Affiliation

Identity

HGNC

ANO2

LOCATION

12p13.31

LOCUSID

57101

ALIAS

C12orf3,TMEM16B

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57101
MIM: 610109
HGNC: 1183
Ensembl: ENSG00000047617

Variants:

dbSNP: 57101
ClinVar: 57101
TCGA: ENSG00000047617
COSMIC: ANO2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000047617	ENST00000327087	Q9NQ90
ENSG00000047617	ENST00000356134	Q9NQ90
ENSG00000047617	ENST00000545860	F5H806
ENSG00000047617	ENST00000546188	F5GXT3
ENSG00000047617	ENST00000612575	Q69YW4
ENSG00000047617	ENST00000650848	Q9NQ90

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Olfactory transduction	KEGG	ko04740
Olfactory transduction	KEGG	hsa04740
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Stimuli-sensing channels	REACTOME	R-HSA-2672351

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10066	duloxetine	Chemical	ClinicalAnnotation, VariantAnnotation	associated		PD	29407288
PA447321	Depressive Disorder, Major	Disease	ClinicalAnnotation, VariantAnnotation	associated		PD	29407288

References

Pubmed ID	Year	Title	Citations
19561302	2009	ANO2 is the cilial calcium-activated chloride channel that may mediate olfactory amplification.	143
19474308	2009	TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals.	97
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
12739008	2003	FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products.	34
19165232	2009	Genome-wide association study of panic disorder in the Japanese population.	31
23570556	2013	TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels.	21
26862169	2016	Anoctamin 2 identified as an autoimmune target in multiple sclerosis.	20
25489088	2014	Preassociated apocalmodulin mediates Ca2+-dependent sensitization of activation and inactivation of TMEM16A/16B Ca2+-gated Cl- channels.	14
24928056	2014	Calcium-activated chloride channels anoctamin 1 and 2 promote murine uterine smooth muscle contractility.	12
17371490	2007	A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3.	6

Citation

Dessen P

ANO2 (anoctamin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54128/ano2