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Anoctamin 5

This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] (from NCBI)
Top mentioned proteins: ACID, TMEM16B, TMEM16D, TMEM16C, CACC
Papers on TMEM16E
A role of TMEM16E carrying a scrambling domain in sperm motility.
Nagata et al., Suita, Japan. In Mol Cell Biol, Jan 2016
UNASSIGNED: TMEM16E belongs to the TMEM16 family of proteins that have ten transmembrane regions, and appears to localize intracellularly.
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy.
Han et al., Columbus, United States. In Skelet Muscle, 2014
BACKGROUND: Anoctamin 5 (ANO5) is a member of a conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca(2+)-activated chloride channel (CaCC) activity.
TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability.
Kamata et al., Hiroshima, Japan. In J Cell Physiol, 2014
TMEM16E/GDD1 has been shown to be responsible for the bone-related late-onset disease gnathodiaphyseal dysplasia (GDD), with the dominant allele (TMEM16E(gdd) ) encoding a missense mutation at Cys356.
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
Seri et al., Bologna, Italy. In Eur J Hum Genet, 2013
Anoctamin 5 (ANO5) belongs to the anoctamin protein family that includes calcium-activated chloride channels.
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
Schoser et al., München, Germany. In Muscle Nerve, 2012
This study identified four novel mutations in the ANO5 gene cause high lever Creatine Kinase and limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
Udd et al., Tampere, Finland. In Neurology, 2012
Mutations are distributed all over the gene, indicating that muscular dystrophy caused by ANO5 can be expected to occur in all populations
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.
Eymard et al., Paris, France. In Rev Neurol (paris), 2012
The c.191dupA mutation, already reported as a founder mutation in Caucasian patients with anoctamin myopathies, was found in our family in a heterozygous state.
Mutation of rice BC12/GDD1, which encodes a kinesin-like protein that binds to a GA biosynthesis gene promoter, leads to dwarfism with impaired cell elongation.
Chong et al., Beijing, China. In Plant Cell, 2011
Here, we describe a rice (Oryza sativa) mutant, gibberellin-deficient dwarf1 (gdd1), that has a phenotype of greatly reduced length of root, stems, spikes, and seeds.
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Bushby et al., Newcastle upon Tyne, United Kingdom. In Brain, 2011
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
A new distal myopathy with mutation in anoctamin 5.
Bashir et al., Oulu, Finland. In Neuromuscul Disord, 2010
mutation in patients with a distal myopathy;(a new separate clinical, genetic and histopathologic entity)
TMEM16A/anoctamin 1 protein mediates calcium-activated chloride currents in pulmonary arterial smooth muscle cells.
Tammaro et al., Manchester, United Kingdom. In J Physiol, 2010
Further analyses revealed that several TMEM16A splice variants were detected in rat PASMCs and that TMEM16F and TMEM16K were also expressed in these cells, while TMEM16B, TMEM16D and TMEM16E were all at least 50 times less abundantly expressed and the remaining TMEM16 family members were absent.
Recurring gnathodiaphyseal dysplasia in two Russian brothers.
Khonsari et al., Moscow, Russia. In Int J Oral Maxillofac Surg, 2010
Gnathodiaphyseal dysplasia is a rare autonomic dominant syndrome due to a mutation of the TMEM16E gene.
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
Brais et al., Montréal, Canada. In Am J Hum Genet, 2010
Recessive mutations were identified in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.
Chloride channelopathies.
Jentsch et al., Valencia, Spain. In Biochim Biophys Acta, 2009
Diseases due to mutations in TMEM16E and bestrophin 1 might be due to a loss of Ca++-activated Cl- channels, although this remains to be shown.
Expression cloning of TMEM16A as a calcium-activated chloride channel subunit.
Jan et al., San Francisco, United States. In Cell, 2008
The TMEM16 family of "transmembrane proteins with unknown function" is conserved among eukaryotes, with family members linked to tracheomalacia (mouse TMEM16A), gnathodiaphyseal dysplasia (human TMEM16E), aberrant X segregation (a Drosophila TMEM16 family member), and increased sodium tolerance (yeast TMEM16).
Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.
Itakura et al., Hiroshima, Japan. In Biochem Biophys Res Commun, 2007
These observations suggest diverse cellular role(s) of GDD1 in the development of musculoskeletal system.
Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1.
Itakura et al., Tokushima, Japan. In Biochem Biophys Res Commun, 2005
characterized the complete cDNA sequence and genomic organization of the mouse GDD1 gene
Identification and characterization of TMEM16H gene in silico.
Katoh et al., Japan. In Int J Mol Med, 2005
TMEM16A, TMEM16B, TMEM16C, TMEM16D, TMEM16E (GDD1), TMEM16F, TMEM16G and TP53I5 are TMEM16 family proteins with TM16H1, TM16H2 and TM16H3 domains.
Characterization of human TMEM16G gene in silico.
Katoh et al., Narashino, Japan. In Int J Mol Med, 2004
TMEM16A, TMEM16B, TMEM16C, TMEM16D, TMEM16E, TMEM16F and TP53I5 are TMEM16 family eight-transmembrane proteins with N- and C-terminal tails facing the cytoplasm.
Identification and characterization of human TP53I5 and mouse Tp53i5 genes in silico.
Katoh et al., Narashino, Japan. In Int J Oncol, 2004
TP53I5 orthologs were homologous to TMEM16A (FLJ10261 or ORAOV2), TMEM16B, TMEM16C, TMEM16D, TMEM16E and TMEM16F with the TM16H1, TM16H2, and TM16H3 domains.
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