Property Summary

NCBI Gene PubMed Count 39
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 5.8e-03
malignant mesothelioma 2.600 8.4e-09
astrocytoma -2.500 9.0e-04
ependymoma -2.000 3.2e-02
psoriasis -1.300 3.9e-05
glioblastoma multiforme -2.900 2.6e-28
oligodendroglioma -1.700 2.3e-08
osteosarcoma -1.584 3.0e-02
group 3 medulloblastoma -4.800 9.8e-09
atypical teratoid / rhabdoid tumor -1.700 2.6e-02
medulloblastoma, large-cell -3.700 3.0e-04
Atopic dermatitis -1.200 9.3e-04
colon cancer -1.200 5.0e-03
adult high grade glioma -3.000 1.5e-06
nasopharyngeal carcinoma -1.300 5.5e-06
breast carcinoma -1.800 5.6e-29
Pick disease -1.200 1.9e-03
Breast cancer -2.800 6.5e-40
ductal carcinoma in situ -1.400 2.7e-04
invasive ductal carcinoma -2.900 2.2e-03
ovarian cancer -1.400 1.4e-04
pituitary cancer -2.600 1.0e-03

 OMIM Phenotype (1)

Protein-protein Interaction (394)

OR2M5   OR2A25   OR6C74   OR14I1   OR5H15   OR6C68   OR5K3   OR6C6   OR2W5   OR51F1   OR2T8   OR4C46   OR5H14   OR6C70   OR6C65   OR5H1   OR6C75   OR5B21   OR2AG2   OR6C76   OR5K4   OR4C45   OR2AT4   GNAT3   OR7A17   OR1F1   OR2T1   OR10H2   OR10H3   OR7C2   OR1I1   OR2B3   OR2J3   OR2J2   OR7C1   OR7A10   OR2F2   OR6B1   OR4F21   OR2A4   OR5F1   OR6A2   OR2C1   OR2H2   GNAI2   GNAI3   OR4A8   OR4Q2   OR4E1   OR8U8   OR2T7   OR56A5   OR1E1   OR10J1   OR1D2   OR3A1   OR3A4P   OR1E2   OR3A3   OR1G1   OR3A2   OR2B6   OR4D2   OR10A3   OR12D2   GNB1   GNAI1   GNGT1   OR5I1   OR2F1   OR1Q1   OR4D1   OR8G1   OR1C1   OR8B8   OR7A5   OR2B11   OR10J3   OR2G6   OR5M10   OR4C11   OR4F16   OR2T5   OR2T2   OR8G2   OR2A2   OR52W1   OR4A47   OR10K2   OR52E8   OR6B2   OR7E24   OR2W3   OR4N5   OR4N4   OR8I2   OR5AS1   OR8H3   OR6V1   OR8H2   OR2L13   OR2C3   OR5T1   OR2T33   OR2T12   OR8G5   OR2L5   OR2M7   OR2M3   OR2AK2   OR2L3   OR13H1   OR11H1   OR7G3   OR2Z1   OR7D4   OR7G2   OR7G1   OR1M1   OR10H4   OR10H5   OR4F17   OR4C5   OR4S1   OR4M2   OR4F15   OR4F6   OR5AU1   OR11G2   OR4E2   OR10G2   OR10G3   OR6J1   OR4K17   OR11H6   OR11H7   OR11H4   OR4M1   OR4N2   OR4K2   OR4K5   OR4K1   OR4K14   OR10AD1   OR6C4   OR2AP1   OR10P1   OR10A7   OR9K2   OR4D9   OR9Q2   OR52B6   OR52R1   OR51D1   OR5AP2   OR10W1   OR5B17   OR4B1   OR4X2   OR8J3   OR5T2   OR5T3   OR8H1   OR8K1   OR8B12   OR8A1   OR8B3   OR2D3   OR56A1   OR52L1   OR56A4   OR52E4   OR52N2   OR52N4   OR56B1   OR4D11   OR4D10   OR10V1   OR5AN1   OR5A2   OR5A1   OR4D6   OR52H1   OR52E2   OR51L1   OR51A4   OR51A2   OR51S1   OR51T1   OR51G2   OR51G1   OR52K2   OR52K1   OR52M1   OR52I1   OR5D16   OR5L2   OR5D18   OR5L1   OR5D14   OR5D13   OR4A15   OR4P4   OR4C16   OR4C15   OR6M1   OR8D4   OR4D5   OR6T1   OR10S1   OR10G4   OR10G9   OR10G8   OR10G7   OR4A4P   OR4C13   OR8J1   OR5M9   OR5M3   OR5M8   OR5M1   OR5AR1   OR9G4   OR6Q1   OR1S2   OR10Q1   OR9Q1   OR9I1   OR13A1   OR1L6   OR1K1   OR5C1   OR1L4   OR1B1   OR1L8   OR1N2   OR1N1   OR1J4   OR1J2   OR1J1   OR13F1   OR13C4   OR13C3   OR13C8   OR13C5   OR13C2   OR13C9   OR2K2   OR13J1   OR9A2   OR2A12   OR2A42   OR9A4   OR2I1P   OR2Y1   OR13D1   OR5H6   OR5H2   OR6B3   OR6K6   OR11L1   OR2T34   OR2T35   OR10T2   OR10K1   OR10R2   OR6Y1   OR6P1   OR6K2   OR6K3   OR6N1   OR6N2   OR2L8   OR2AJ1   OR14K1   OR13G1   OR2G3   OR2G2   OR6F1   OR2T10   OR2T4   OR2T11   OR2T29   OR2T3   OR2T27   OR4Q3   OR11H2   OR8S1   OR8U1   OR2L2   OR5J2   OR10AG1   OR4F5   OR4C3   OR6S1   OR4K15   OR4K13   OR4L1   OR5B3   OR4X1   OR8K5   OR8K3   OR52N1   OR56A3   OR52E5   OR52N5   OR51Q1   OR52J3   OR51F2   OR51H1   OR51A7   OR52I2   OR5W2   OR4A16   OR4C6   OR4S2   OR10A6   OR56B4   OR6X1   OR10G6   OR4A5   OR5R1   OR9G1   OR5AK2   OR1S1   OR1L3   OR1L1   OR2AE1   OR1F12   OR2V1   OR5K1   OR5K2   OR10J5   OR14A16   OR14C36   OR2T6   OR51E1   OR8D1   OR5P2   OR5P3   OR10C1   OR5B12   OR5B2   OR2M4   OR2M2   OR2V2   OR2A7   OR2A14   OR2A5   OR14A2   OR4C12   OR4F4   OR4K3   OR7D2   OR5M11   OR8B4   OR8B2   OR6C1   OR52B2   OR52E6   OR2B2   OR2H1   OR2J1   OR11A1   OR8D2   OR2AG1   OR10A5   OR10A2   OR10A4   OR2D2   OR51E2   OR52A5   OR51V1   OR51B5   OR51B6   OR51M1   OR51J1   OR51I1   OR51I2   OR52D1   OR2S2   OR6C3   OR6C2   OR5AC2   OR1A1   OR14J1   OR5V1   OR12D3   OR52A1   OR2W1   OR10H1   OR1A2   OR51B4   OR51B2  

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.
24144882 The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD).
23759320 Mutations in GNAL gene can cause adult-onset primary dystonia in Chinese patients
23449625 Familial adult-onset primary dystonia can result from mutations in GNAL.
23222958 Mutations in GNAL cause primary torsion dystonia.
22120635 these findings provide important clues to understanding physiological functions of XLGalpha(olf).
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19328558 Observational study of gene-disease association. (HuGE Navigator)
19245791 This study provides important clues toward understanding physiological functions of XLGalpha(olf).
17166517 We hypothesized that the G(s)-like subunit Galpha(olf), expressed in D1-rich areas of the brain, contributes to the genetic susceptibility of ADHD. We examined the inheritance pattern of 12 GNAL polymorphisms in 258 nuclear families.
16818375 Galpha(olf) variant XLGalpha(olf) interacts with the human adenosine A2A receptor
16044173 identified a transcriptional variant of the GNAL gene in chromosome 18p11.2 in susceptibility to bipolar disorder and schizophrenia
12782961 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12782961 No support for the hypothesis that the olfactory G-protein gene is a major susceptibility factor for bipolar disorders.
12037684 promotes cellular invasion, survival and neuroendocrine differentiation in colon, kidney and prostate epithelial cells
11901355 investigation of whether polymorphisms in the alpha subunit of the Golf gene (A-->G in intron 3, and T-->G in intron 10) are associated with major depression; additionally tested for a parent-of-origin effect in separated gender groups

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.
24144882 2013 New genetic insights highlight 'old' ideas on motor dysfunction in dystonia.
23759320 2013 Mutation screening of GNAL gene in patients with primary dystonia from Northeast China.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23459443 2014 Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
23449625 2013 Role of G?(olf) in familial and sporadic adult-onset primary dystonia.
23222958 2013 Mutations in GNAL cause primary torsion dystonia.
22120635 2011 XLG?olf regulates expression of p27Kip1 in a CSN5 and CDK2 dependent manner.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19328558 2009 Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.
19245791 2009 Subcellular localization of a novel G protein XLGalpha(olf).
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17166517 2008 Investigation of the G protein subunit Galphaolf gene (GNAL) in attention deficit/hyperactivity disorder.
16818375 2006 Functional coupling of the Galpha(olf) variant XLGalpha(olf) with the human adenosine A2A receptor.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16177791 2005 DNA sequence and analysis of human chromosome 18.
16044173 2005 Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14993377 2002 Isoforms of mammalian adenylyl cyclase: multiplicities of signaling.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12782961 2003 Analysis of polymorphisms in the alpha-subunit of the olfactory G-protein Golf in lithium-treated bipolar patients.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12037684 2002 G-protein alpha(olf) subunit promotes cellular invasion, survival, and neuroendocrine differentiation in digestive and urogenital epithelial cells.
11032382 2000 Sequence and genomic organization of the human G-protein Golfalpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia.
10026232 1999 Cellular and subcellular expression of Golf/Gs and Gq/G11 alpha-subunits in rat pancreatic endocrine cells.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8663304 1996 Purification and characterization of a soluble form of mammalian adenylyl cyclase.
8243272 1993 Human G(olf) alpha: complementary deoxyribonucleic acid structure and expression in pancreatic islets and other tissues outside the olfactory neuroepithelium and central nervous system.
7937899 1994 Mechanism of GTP hydrolysis by G-protein alpha subunits.
1302014 1992 Evolution of the mammalian G protein alpha subunit multigene family.