ANO3 (anoctamin 3)

2014-11-01  

Identity

HGNC
ANO3
LOCATION
11p14.2
LOCUSID
63982
ALIAS
C11orf25,DYT23,DYT24,GENX-3947,TMEM16C
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 63982
MIM: 610110
HGNC: 14004
Ensembl: ENSG00000134343

Variants:

dbSNP: 63982
ClinVar: 63982
TCGA: ENSG00000134343
COSMIC: ANO3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134343ENST00000256737Q9BYT9
ENSG00000134343ENST00000525139E9PQ79
ENSG00000134343ENST00000531568Q9BYT9
ENSG00000134343ENST00000531646E9PKW2

Expression (GTEx)

0
10
20
30
40
50
60
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
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
380795282024Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.1
382841432024The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.0
380795282024Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.1
382841432024The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.0
371162932023A novel ANO3 variant in two siblings with different phenotypes.1
371162932023A novel ANO3 variant in two siblings with different phenotypes.1
333883572021The expanding clinical and genetic spectrum of ANO3 dystonia.3
333883572021The expanding clinical and genetic spectrum of ANO3 dystonia.3
307129982019Role of ANO3 mutations in dystonia: A large-scale mutational screening study.4
307129982019Role of ANO3 mutations in dystonia: A large-scale mutational screening study.4
276669352017Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.33
276669352017Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.33
273928072016Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.7
278810962016A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.3
273928072016Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.7

Citation

Dessen P

ANO3 (anoctamin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60377/tumors-explorer/favicon/manifest.json