ANO6 (anoctamin 6)

2016-03-01  

Identity

HGNC
ANO6
LOCATION
12q12
LOCUSID
196527
ALIAS
BDPLT7,SCTS,TMEM16F
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 196527
MIM: 608663
HGNC: 25240
Ensembl: ENSG00000177119

Variants:

dbSNP: 196527
ClinVar: 196527
TCGA: ENSG00000177119
COSMIC: ANO6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177119ENST00000320560Q4KMQ2
ENSG00000177119ENST00000423947Q4KMQ2
ENSG00000177119ENST00000425752Q4KMQ2
ENSG00000177119ENST00000441606Q4KMQ2
ENSG00000177119ENST00000550630F8VX71

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
211073242010Calcium-dependent phospholipid scrambling by TMEM16F.272
269368672016Getting to the Outer Leaflet: Physiology of Phosphatidylserine Exposure at the Plasma Membrane.74
260578292015Identification of a lipid scrambling domain in ANO6/TMEM16F.70
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
215119672011Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome.45
234269672013TMEM16F is a component of a Ca2+-activated Cl- channel but not a volume-sensitive outwardly rectifying Cl- channel.45
256518872015Anoctamin 6 mediates effects essential for innate immunity downstream of P2X7 receptors in macrophages.44
261084572015Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.28
236189092013Calcium-activated and apoptotic phospholipid scrambling induced by Ano6 can occur independently of Ano6 ion currents.24
264813092016Survival protein anoctamin-6 controls multiple platelet responses including phospholipid scrambling, swelling, and protein cleavage.17

Citation

Dessen P

ANO6 (anoctamin 6)

Atlas Genet Cytogenet Oncol Haematol. 2016-03-01

Online version: http://atlasgeneticsoncology.org/gene/55680/ano6