Property Summary

NCBI Gene PubMed Count 33
PubMed Score 104.36
PubTator Score 60.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytic glioma -1.800 4.9e-03
ependymoma -1.800 1.0e-02
glioblastoma -1.900 2.7e-03
group 3 medulloblastoma -2.200 1.0e-02
medulloblastoma, large-cell -1.500 3.2e-02
primitive neuroectodermal tumor -2.200 1.8e-02
adrenocortical carcinoma -1.095 5.6e-03
lung adenocarcinoma -1.400 2.1e-13
pediatric high grade glioma -1.500 3.4e-03
lung carcinoma 3.000 6.6e-29
ovarian cancer -1.900 3.1e-11
pituitary cancer 1.100 1.4e-06

Gene RIF (19)

PMID Text
25891276 Study screened the ANO5 gene in 786 myopathic patients and 52 controls by combining NGS and Sanger sequencing. In the cohort of patients, thirty-three are homozygous or compound heterozygous for causative mutations in ANO5
24639367 supervised aerobic exercise training is safe and effective in improving oxidative capacity and muscle function in patients with anoctamin 5 deficiency
24232312 The present report describes an association between LGMD2L consequent upon mutation in ANO5 and macular dystrophy in one affected person.
23843187 This study showed that TMEM16E possesses distinct function other than chloride channel activity, and another protein-stabilizing machinery toward the TMEM16E proteins should be considered for the on-set regulation of their phenotypes in tissues.
23670307 A high prevalence of ANO5 deficiency was found among patients with unclassified recessive limb girdle muscular dystrophy 2
23663589 ANO5 mutations can be associated with amyloid deposition in muscle
23607914 a diagnosis of ANO5 causing Muscular Dystrophy, Limb-Girdle, Type 2L, in 16% of the families (11/68) in a well-defined limb girdle muscular dystrophy cohort in the Netherlands
23606453 investigated the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes; study confirmed that ANO5 gene mutations are responsible for about one fourth of cases of undiagnosed muscular dystrophy in the population studied
23055322 A family is described in which 2 mutations in ANO5 segregate with marked creatine kinase-type hypercreatinemia, demonstrating that recessively inherited ANO5 mutations not only lead to muscular dystrophy but may also cause bone disease.
23047743 By sequencing the entire ANO5 gene coding region and untranslated regions in a large Italian gnathodiaphyseal dyplasia family, a novel missense mutation causing the p.Thr513Ile substitution, was found.
23041008 Dilated cardiomyopathy is associated with mutations in the ANO5 gene.
22980764 This study demonistrayed that anoctamin 5 mutations associate to distal muscular dystrophy.
22742934 occurrence and molecular epidemiology of LGMD2L, caused by mutations in the anoctamin 5 (ANO5) gene, in a Italian cohort differed from those observed in other European countries.
22499103 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.
22402862 Mutations are distributed all over the gene, indicating that muscular dystrophy caused by ANO5 can be expected to occur in all populations
22336395 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.
21186264 A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
20692837 mutation in patients with a distal myopathy;(a new separate clinical, genetic and histopathologic entity)
20096397 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.

AA Sequence

MGDPDLLEVLAEEGEKVNKHIDYSFQMSEQSLSSRETSFLINEETMPAKRFNLFLRRRLMFQKNQQSKDS      1 - 70
IFFRDGIRQIDFVLSYVDDVKKDAELKAERRKEFETNLRKTGLELEIEDKRDSEDGRTYFVKIHAPWEVL     71 - 140
VTYAEVLGIKMPIKESDIPRPKHTPISYVLGPVRLPLSVKYPHPEYFTAQFSRHRQELFLIEDQATFFPS    141 - 210
SSRNRIVYYILSRCPFGIEDGKKRFGIERLLNSNTYSSAYPLHDGQYWKPSEPPNPTNERYTLHQNWARF    211 - 280
SYFYKEQPLDLIKNYYGEKIGIYFVFLGFYTEMLFFAAVVGLACFIYGLLSMEHNTSSTEICDPEIGGQM    281 - 350
IMCPLCDQVCDYWRLNSTCLASKFSHLFDNESTVFFAIFMGIWVTLFLEFWKQRQARLEYEWDLVDFEEE    351 - 420
QQQLQLRPEFEAMCKHRKLNAVTKEMEPYMPLYTRIPWYFLSGATVTLWMSLVVTSMVAVIVYRLSVFAT    421 - 490
FASFMESDASLKQVKSFLTPQITTSLTGSCLNFIVILILNFFYEKISAWITKMEIPRTYQEYESSLTLKM    491 - 560
FLFQFVNFYSSCFYVAFFKGKFVGYPGKYTYLFNEWRSEECDPGGCLIELTTQLTIIMTGKQIFGNIKEA    561 - 630
IYPLALNWWRRRKARTNSEKLYSRWEQDHDLESFGPLGLFYEYLETVTQFGFVTLFVASFPLAPLLALIN    631 - 700
NIVEIRVDAWKLTTQYRRTVASKAHSIGVWQDILYGMAVLSVATNAFIVAFTSDIIPRLVYYYAYSTNAT    701 - 770
QPMTGYVNNSLSVFLIADFPNHTAPSEKRDFITCRYRDYRYPPDDENKYFHNMQFWHVLAAKMTFIIVME    771 - 840
HVVFLVKFLLAWMIPDVPKDVVERIKREKLMTIKILHDFELNKLKENLGINSNEFAKHVMIEENKAQLAK    841 - 910
STL                                                                       911 - 913
//

Text Mined References (36)

PMID Year Title
27216912 2016 Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.
25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
24722205 2014 A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
24692353 2014 Structure and function of TMEM16 proteins (anoctamins).
24639367 2014 Aerobic training in patients with anoctamin 5 myopathy and hyperckemia.
24232312 2014 Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5.
23843187 2014 TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability.
23670307 2013 Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
23663589 2013 ANO5-muscular dystrophy: clinical, pathological and molecular findings.
23607914 2013 ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
23606453 2013 ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
23055322 2012 LGMD2L with bone affection: overlapping phenotype of dominant and recessive ANO5-induced disease.
23047743 2013 A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
23041008 2013 Dilated cardiomyopathy in patients with mutations in anoctamin 5.
22980764 2012 Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.
22946059 2012 Anoctamins are a family of Ca2+-activated Cl- channels.
22742934 2012 Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
22499103 2012 Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
22402862 2012 Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
22336395 2012 Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.
22302790 2012 The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age.
22075693 2012 ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins.
21642943 2011 Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?
21607626 2011 Anoctamins.
21186264 2011 A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
20692837 2010 A new distal myopathy with mutation in anoctamin 5.
20096397 2010 Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
20056604 2010 Expression and function of epithelial anoctamins.
19015192 2009 Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels.
17008331 2007 A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.
15457408 2004 GDD1 is identical to TMEM16E, a member of the TMEM16 family.
15124103 2004 The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).
15067359 2004 Identification and characterization of TMEM16E and TMEM16F genes in silico.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.