Property Summary

NCBI Gene PubMed Count 25
PubMed Score 13.87
PubTator Score 14.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma -1.500 0.000
psoriasis 1.400 0.000
tuberculosis 1.300 0.000
pituitary cancer -1.400 0.000

Gene RIF (6)

PMID Text
25730773 ANO10 has a central role in innate immune defense against Borrelia infection.
25182700 The detection of mutations in ANO10 indicate that ANO10 defects cause secondary low coenzyme Q10.
25089919 An ANO10 mutation is responsible for autosomal recessive cerebellar ataxia that is mainly characterized by cerebellar atrophy and lack of peripheral neuropathy.
24275721 Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2, TGM6, ANO10 and SYT14
22527681 New DNA sequencing technologies are enabling us to investigate the whole or large targeted proportions of the genome in a rapid, affordable, and comprehensive way. Exome and targeted sequencing ANO10 genes causing ataxia.
22008874 This study report Gypsy family with autosomal recessive ataxia caused by the same truncating ANO10 defect.

AA Sequence

MKVTLSALDTSESSFTPLVVIELAQDVKEETKEWLKNRIIAKKKDGGAQLLFRPLLNKYEQETLENQNLY      1 - 70
LVGASKIRMLLGAEAVGLVKECNDNTMRAFTYRTRQNFKGFDDNNDDFLTMAECQFIIKHELENLRAKDE     71 - 140
KMIPGYPQAKLYPGKSLLRRLLTSGIVIQVFPLHDSEALKKLEDTWYTRFALKYQPIDSIRGYFGETIAL    141 - 210
YFGFLEYFTFALIPMAVIGLPYYLFVWEDYDKYVIFASFNLIWSTVILELWKRGCANMTYRWGTLLMKRK    211 - 280
FEEPRPGFHGVLGINSITGKEEPLYPSYKRQLRIYLVSLPFVCLCLYFSLYVMMIYFDMEVWALGLHENS    281 - 350
GSEWTSVLLYVPSIIYAIVIEIMNRLYRYAAEFLTSWENHRLESAYQNHLILKVLVFNFLNCFASLFYIA    351 - 420
FVLKDMKLLRQSLATLLITSQILNQIMESFLPYWLQRKHGVRVKRKVQALKADIDATLYEQVILEKEMGT    421 - 490
YLGTFDDYLELFLQFGYVSLFSCVYPLAAAFAVLNNFTEVNSDALKMCRVFKRPFSEPSANIGVWQLAFE    491 - 560
TMSVISVVTNCALIGMSPQVNAVFPESKADLILIVVAVEHALLALKFILAFAIPDKPRHIQMKLARLEFE    561 - 630
SLEALKQQQMKLVTENLKEEPMESGKEKAT                                            631 - 660
//

Text Mined References (30)

PMID Year Title
27227820 2016 Role of Ca(2+) in the Stability and Function of TMEM16F and 16K.
27045840 2016 Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.
26811235 2016 Cellular functions of TMEM16/anoctamin.
25730773 2015 A Coding Variant of ANO10, Affecting Volume Regulation of Macrophages, Is Associated with Borrelia Seropositivity.
25664551 2015 Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply.
25182700 2014 ANO10 mutations cause ataxia and coenzyme Q?? deficiency.
25089919 2014 Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
24692353 2014 Structure and function of TMEM16 proteins (anoctamins).
24275721 2014 Genetics of dizziness: cerebellar and vestibular disorders.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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