ANO3 (anoctamin 3)

2014-11-01  

Identity

HGNC
LOCATION
11p14.2
LOCUSID
ALIAS
C11orf25,DYT23,DYT24,GENX-3947,TMEM16C
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
232008632012Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.62
238725942013TMEM16C facilitates Na(+)-activated K+ currents in rat sensory neurons and regulates pain processing.40
127390082003FLJ10261 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
244427082014The phenotypic spectrum of DYT24 due to ANO3 mutations.21
276669352017Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.18
241511592014Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.9
258475752015Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.5
273928072016Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.5
240947242014Rare variants in ANO3 are not a susceptibility factor in essential tremor.3

Citation

Dessen P

ANO3 (anoctamin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60377/ano3