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Gene : ANO3 Homo sapiens

Name  ? anoctamin 3 Cytological Location  11p14.3-p14.2
Brief Description  anoctamin 3
description  The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
  • synonyms:
  • chromosome 11 open reading frame 25,
  • ANO3,
  • NM_031418,
  • AJ300461,
  • HGNC:14004,
  • DYT23,
  • dystonia 23,
  • transmembrane protein 16C,
  • C11orf25,
  • TMEM16C,
  • GENX-3947,
  • DYT24,
  • TMEM16C,
  • uc001mqt.5,
  • C11orf25,
  • OTTHUMG00000166096,
  • DYT23,
  • transmembrane protein 16C (eight membrane-spanning domains),
  • GENX-3947
  • identifiers:
  • 63982,
  • ENSG00000134343,
  • ANO3

Genome feature

Region: gene ? Length: 478785  
Location: 11:26189123-26667907 Cyto location: 11p14.3-p14.2


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Disease

1 Diseases

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887 SN Ps

5 Cross References

19 Data Sets

14 Homologues

0 Located Features

90 Rna Seq Results