Property Summary

NCBI Gene PubMed Count 18
PubMed Score 14.57
PubTator Score 17.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma -3.800 1.2e-03
ependymoma -4.300 4.9e-04
oligodendroglioma -3.700 3.4e-03
glioblastoma -4.100 1.0e-04
medulloblastoma -4.500 1.9e-07
atypical teratoid / rhabdoid tumor -4.700 4.9e-09
medulloblastoma, large-cell -4.800 1.4e-03
primitive neuroectodermal tumor -4.700 1.5e-04
intraductal papillary-mucinous adenoma (... 1.200 3.5e-02
adult high grade glioma -3.100 9.3e-03
pilocytic astrocytoma -2.600 2.3e-03
severe Alzheimer's disease -1.523 4.3e-02
ductal carcinoma in situ -1.200 4.5e-03
invasive ductal carcinoma -1.100 1.8e-02
pituitary cancer 2.300 6.4e-03

Gene RIF (9)

PMID Text
25847575 This study demonstrated that Mutations in ANO3 may cause Dystonia.
24442708 ANO3 causes a varied phenotype of young-onset or adult-onset craniocervical dystonia with tremor and/or myoclonic jerks
24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in primary torsion dystonia pathogenesis.
24094724 Our findings indicate that rare exonic variants in ANO3 do not play a major role in the development of essentail tremor
23872594 rat Ano3 (also known as Tmem16c) interacts with, and alters the activity of the sodium-activated potassium channel Slack. Reduced expression of Ano3 in rat models results in increased pain sensitivity.
23200863 Mutations in ANO3 are a cause of autosomal-dominant craniocervical dystonia.
22657408 The significant single nucleotide polymorphisms are located within the overlapping anoctamin 3 (ANO3) and mucin 15 (MUC15) genes.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
12739008 C11orf25, FLJ10261 (ORAOV2), C12orf3 and FLJ34272 constitute a family of eight-transmembrane proteins with N- and C-terminal tails facing the cytoplasm.

AA Sequence

MVHHSGSIQSFKQQKGMNISKSEITKETSLKPSRRSLPCLAQSYAYSKSLSQSTSLFQSTESESQAPTSI      1 - 70
TLISTDKAEQVNTEENKNDSVLRCSFADLSDFCLALGKDKDYTDESEHATYDRSRLINDFVIKDKSEFKT     71 - 140
KLSKNDMNYIASSGPLFKDGKKRIDYILVYRKTNIQYDKRNTFEKNLRAEGLMLEKEPAIASPDIMFIKI    141 - 210
HIPWDTLCKYAERLNIRMPFRKKCYYTDGRSKSMGRMQTYFRRIKNWMAQNPMVLDKSAFPDLEESDCYT    211 - 280
GPFSRARIHHFIINNKDTFFSNATRSRIVYHMLERTKYENGISKVGIRKLINNGSYIAAFPPHEGAYKSS    281 - 350
QPIKTHGPQNNRHLLYERWARWGMWYKHQPLDLIRLYFGEKIGLYFAWLGWYTGMLIPAAIVGLCVFFYG    351 - 420
LFTMNNSQVSQEICKATEVFMCPLCDKNCSLQRLNDSCIYAKVTYLFDNGGTVFFAIFMAIWATVFLEFW    421 - 490
KRRRSILTYTWDLIEWEEEEETLRPQFEAKYYKMEIVNPITGKPEPHQPSSDKVTRLLVSVSGIFFMISL    491 - 560
VITAVFGVVVYRLVVMEQFASFKWNFIKQYWQFATSAAAVCINFIIIMLLNLAYEKIAYLLTNLEYPRTE    561 - 630
SEWENSFALKMFLFQFVNLNSSIFYIAFFLGRFVGHPGKYNKLFDRWRLEECHPSGCLIDLCLQMGVIMF    631 - 700
LKQIWNNFMELGYPLIQNWWSRHKIKRGIHDASIPQWENDWNLQPMNLHGLMDEYLEMVLQFGFTTIFVA    701 - 770
AFPLAPLLALLNNIIEIRLDAYKFVTQWRRPLPARATDIGIWLGILEGIGILAVITNAFVIAITSDYIPR    771 - 840
FVYEYKYGPCANHVEPSENCLKGYVNNSLSFFDLSELGMGKSGYCRYRDYRGPPWSSKPYEFTLQYWHIL    841 - 910
AARLAFIIVFEHLVFGIKSFIAYLIPDVPKGLHDRIRREKYLVQEMMYEAELEHLQQQRRKSGQPVHHEW    911 - 980
P//

Text Mined References (22)

PMID Year Title
25847575 2015 Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
25451786 2015 TMEM16 proteins: unknown structure and confusing functions.
25344690 2014 Common variants associated with general and MMR vaccine-related febrile seizures.
24692353 2014 Structure and function of TMEM16 proteins (anoctamins).
24442708 2014 The phenotypic spectrum of DYT24 due to ANO3 mutations.
24151159 2014 Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
24094724 2014 Rare variants in ANO3 are not a susceptibility factor in essential tremor.
23872594 2013 TMEM16C facilitates Na(+)-activated K+ currents in rat sensory neurons and regulates pain processing.
23200863 2012 Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
22657408 2012 The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma.
22302790 2012 The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age.
21984732 2012 The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels.
21642943 2011 Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?
21607626 2011 Anoctamins.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19553259 2009 Common body mass index-associated variants confer risk of extreme obesity.
19015192 2009 Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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.
12739008 2003 FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products.