Property Summary

NCBI Gene PubMed Count 39
Grant Count 4
Funding $600,553.41
PubMed Score 28.83
PubTator Score 44.12

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (22)

Disease log2 FC p
urothelial carcinoma -1.800 0.006
malignant mesothelioma 2.600 0.000
astrocytoma -2.500 0.001
ependymoma -2.000 0.032
psoriasis -1.300 0.000
glioblastoma multiforme -2.900 0.000
oligodendroglioma -1.700 0.000
osteosarcoma -1.584 0.030
group 3 medulloblastoma -4.800 0.000
atypical teratoid / rhabdoid tumor -1.700 0.026
medulloblastoma, large-cell -3.700 0.000
Atopic dermatitis -1.200 0.001
colon cancer -1.200 0.005
adult high grade glioma -3.000 0.000
nasopharyngeal carcinoma -1.300 0.000
breast carcinoma -1.800 0.000
Pick disease -1.200 0.002
Breast cancer -2.800 0.000
ductal carcinoma in situ -1.400 0.000
invasive ductal carcinoma -2.900 0.002
ovarian cancer -1.400 0.000
pituitary cancer -2.600 0.001

Synonym

Accession P38405 B7ZA26 Q86XU3
Symbols DYT25

Gene

 OMIM Term (1)

Gene RIF (25)

PMID Text
26725140 We report a novel GNAL mutation in Italian family with adult-onset, dominantly-inherited dystonia
26365774 Mutations in the GNAL gene may not be a common cause of isolated dystonia in the Chinese population.
25847575 This study demonstrated that Mutations in GNAL may cause Dystonia.
25382112 identified two novel GNAL mutations: one heterozygous missense variant in GNAL exon 4, c.289A>G.
24729450 This study identified a novel likely disease-causing GNAL mutation in a Serbian patient with cervical dystonia and a classical DYT25 phenotype.
24535567 GNAL mutations potentially increase ethnic susceptibility to movement disorders induced by dopamine antagonists.
24500857 Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion.
24408567 The findings of this study further support GNAL as causative gene in adult-onset isolated dystonia.
24222099 Our own data suggest that GNAL mutations do not represent a common cause of dystonia in the U.K. population.
24151159 GNAL variants seem to be a rare cause of primary torsion dystonia in our mainly sporadic German sample.
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AA Sequence

MGCLGGNSKTTEDQGVDEKERREANKKIEKQLQKERLAYKATHRLLLLGAGESGKSTIVKQMRILHVNGF      1 - 70
NPEEKKQKILDIRKNVKDAIVTIVSAMSTIIPPVPLANPENQFRSDYIKSIAPITDFEYSQEFFDHVKKL     71 - 140
WDDEGVKACFERSNEYQLIDCAQYFLERIDSVSLVDYTPTDQDLLRCRVLTSGIFETRFQVDKVNFHMFD    141 - 210
VGGQRDERRKWIQCFNDVTAIIYVAACSSYNMVIREDNNTNRLRESLDLFESIWNNRWLRTISIILFLNK    211 - 280
QDMLAEKVLAGKSKIEDYFPEYANYTVPEDATPDAGEDPKVTRAKFFIRDLFLRISTATGDGKHYCYPHF    281 - 350
TCAVDTENIRRVFNDCRDIIQRMHLKQYELL                                           351 - 381
//

Text Mined References (40)

PMID Year Title
26725140 2016 Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.
26365774 2015 Mutations in GNAL gene in 214 cases with isolated dystonia.
25847575 2015 Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
25382112 2014 Novel GNAL mutations in two German patients with sporadic dystonia.
24729450 2014 De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
24535567 2014 Mutations in GNAL: a novel cause of craniocervical dystonia.
24500857 2014 Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
24408567 2014 Screening of mutations in GNAL in sporadic dystonia patients.
24222099 2014 No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia.
24151159 2014 Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
More...