ANO3

ANO3
Identifiers
Aliases	ANO3, C11orf25, DYT23, DYT24, TMEM16C, GENX-3947, anoctamin 3
External IDs	OMIM: 610110; MGI: 3613666; GeneCards: ANO3
Gene location (Human)
Chr.	Chromosome 11 (human)
End	26,663,289 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	110,781,268 bp
RNA expression pattern
	Top expressed in
	corpus epididymis; ; external globus pallidus; ; putamen; ; middle temporal gyrus; ; Brodmann area 23; ; caudate nucleus; ; Region I of hippocampus proper; ; nucleus accumbens; ; Brodmann area 46; ; entorhinal cortex;
	Top expressed in
	superior frontal gyrus; ; dentate gyrus of hippocampal formation granule cell; ; lumbar spinal ganglion; ; olfactory tubercle; ; visual cortex; ; primary visual cortex; ; primary motor cortex; ; globus pallidus; ; hippocampus proper; ; nucleus accumbens;
	More reference expression data
	n/a
Gene ontology
Molecular function	phospholipid scramblase activity; protein dimerization activity; intracellular calcium activated chloride channel activity;
Cellular component	integral component of membrane; plasma membrane; membrane;
Biological process	calcium activated phosphatidylcholine scrambling; calcium activated galactosylceramide scrambling; ion transmembrane transport; detection of temperature stimulus; lipid transport; detection of mechanical stimulus; calcium activated phospholipid scrambling;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	63982
	228432
	ENSG00000134343
	ENSMUSG00000074968
	Q9BYT9
	A2AHL1
	NM_001313726; NM_001313727; NM_031418
	NM_001081556; NM_001128103; NM_001355244; NM_001355245; NM_001355246
	NP_001300655; NP_001300656; NP_113606
	NP_001121575; NP_001342173; NP_001342174; NP_001342175
	Wikidata
View/Edit Human	View/Edit Mouse

ANO3 is a gene that in humans is located on chromosome 11 and encodes the protein anoctamin 3.^[5] It belongs to a family of genes (ANO1–ANO10) that appear to encode calcium-activated chloride channels.^[6]

Clinical significance

Mutations in ANO3 have been linked to a form of autosomal dominant cranio-cervical dystonia (also known as DYT23), which presents as abnormal twisting or tremulous movements of the face, voice, head and upper limbs.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000134343 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000074968 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: ANO3".
↑ Tian Y, Schreiber R, Kunzelmann K (2012). "Anoctamins are a family of Ca2⁺-activated Cl⁺− channels". Journal of Cell Science. 125 (21): 4991–4998. doi:10.1242/jcs.109553. PMID 22946059.
↑ Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW (2012). "Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis". American Journal of Human Genetics. 91 (6): 1041–1050. doi:10.1016/j.ajhg.2012.10.024. PMC 3516598. PMID 23200863.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000134343 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000074968 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: ANO3".

[6] Tian Y, Schreiber R, Kunzelmann K (2012). "Anoctamins are a family of Ca2⁺-activated Cl⁺− channels". Journal of Cell Science. 125 (21): 4991–4998. doi:10.1242/jcs.109553. PMID 22946059.

[7] Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW (2012). "Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis". American Journal of Human Genetics. 91 (6): 1041–1050. doi:10.1016/j.ajhg.2012.10.024. PMC 3516598. PMID 23200863.

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