Property Summary

NCBI Gene PubMed Count 18
PubMed Score 14.57
PubTator Score 17.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count
Febrile Convulsions 11
Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 4.93052465786801E-9
medulloblastoma 1524 1.85942024181241E-7
glioblastoma 5572 1.045795826907E-4
primitive neuroectodermal tumor 3031 1.45766608966723E-4
ependymoma 2514 4.91521837854816E-4
astrocytic glioma 2241 0.00119252358980339
medulloblastoma, large-cell 6234 0.00143357846374213
pilocytic astrocytoma 3086 0.0022617732749337
oligodendroglioma 2849 0.00341416271518231
ductal carcinoma in situ 1745 0.00451210289938087
pituitary cancer 1972 0.00635903137563409
adult high grade glioma 2148 0.00932300515341324
invasive ductal carcinoma 2950 0.0183404942389489
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0345173080583411
severe Alzheimer's disease 49 0.0434147077480024
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Obesity 616 0.0 1.0
Disease Target Count Z-score Confidence
Dystonia 77 5.274 2.6
Disease Target Count Z-score Confidence
Essential tremor 30 3.714 1.9
Deafness dystonia syndrome 20 3.362 1.7
Disease Target Count
Dystonia 24 1

Expression

  Differential Expression (15)

Synonym

Accession Q9BYT9 B7Z3F5
Symbols DYT23
DYT24
TMEM16C
C11orf25
GENX-3947

Gene

  Ortholog (12)

 GWAS Trait (1)

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.
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