Property Summary

NCBI Gene PubMed Count 33
Grant Count 24
R01 Count 13
Funding $2,475,766.18
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 0.005
ependymoma -1.800 0.010
glioblastoma -1.900 0.003
group 3 medulloblastoma -2.200 0.010
medulloblastoma, large-cell -1.500 0.032
primitive neuroectodermal tumor -2.200 0.018
adrenocortical carcinoma -1.095 0.006
lung adenocarcinoma -1.400 0.000
pediatric high grade glioma -1.500 0.003
lung carcinoma 3.000 0.000
ovarian cancer -1.900 0.000
pituitary cancer 1.100 0.000

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.
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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.
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