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GNAL (G protein subunit alpha L)

Identity

Alias_namesguanine nucleotide binding protein (G protein)
Other aliasDYT25
HGNC (Hugo) GNAL
LocusID (NCBI) 2774
Atlas_Id 43278
Location 18p11.21  [Link to chromosome band 18p11]
Location_base_pair Starts at 11751472 and ends at 11885684 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DUSP10 (1q41) / GNAL (18p11.21)GNAL (18p11.21) / CSNK1E (22q13.1)GNAL (18p11.21) / GNAL (18p11.21)
LAMA3 (18q11.2) / GNAL (18p11.21)PER3 (1p36.23) / GNAL (18p11.21)GNAL 18p11.21 / CSNK1E 22q13.1
LAMA3 18q11.2 / GNAL 18p11.21PER3 1p36.23 / GNAL 18p11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GNAL   4388
Cards
Entrez_Gene (NCBI)GNAL  2774  G protein subunit alpha L
AliasesDYT25
GeneCards (Weizmann)GNAL
Ensembl hg19 (Hinxton)ENSG00000141404 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141404 [Gene_View]  chr18:11751472-11885684 [Contig_View]  GNAL [Vega]
ICGC DataPortalENSG00000141404
TCGA cBioPortalGNAL
AceView (NCBI)GNAL
Genatlas (Paris)GNAL
WikiGenes2774
SOURCE (Princeton)GNAL
Genetics Home Reference (NIH)GNAL
Genomic and cartography
GoldenPath hg38 (UCSC)GNAL  -     chr18:11751472-11885684 +  18p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GNAL  -     18p11.21   [Description]    (hg19-Feb_2009)
EnsemblGNAL - 18p11.21 [CytoView hg19]  GNAL - 18p11.21 [CytoView hg38]
Mapping of homologs : NCBIGNAL [Mapview hg19]  GNAL [Mapview hg38]
OMIM139312   615073   
Gene and transcription
Genbank (Entrez)AF493893 AK090868 AK290054 AK295088 AK307260
RefSeq transcript (Entrez)NM_001142339 NM_001261443 NM_001261444 NM_002071 NM_182978
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GNAL
Cluster EST : UnigeneHs.741448 [ NCBI ]
CGAP (NCI)Hs.741448
Alternative Splicing GalleryENSG00000141404
Gene ExpressionGNAL [ NCBI-GEO ]   GNAL [ EBI - ARRAY_EXPRESS ]   GNAL [ SEEK ]   GNAL [ MEM ]
Gene Expression Viewer (FireBrowse)GNAL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2774
GTEX Portal (Tissue expression)GNAL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP38405   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP38405  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP38405
Splice isoforms : SwissVarP38405
PhosPhoSitePlusP38405
Domains : Interpro (EBI)Gprotein_alpha_S    Gprotein_alpha_su    GproteinA_insert    P-loop_NTPase   
Domain families : Pfam (Sanger)G-alpha (PF00503)   
Domain families : Pfam (NCBI)pfam00503   
Domain families : Smart (EMBL)G_alpha (SM00275)  
Conserved Domain (NCBI)GNAL
DMDM Disease mutations2774
Blocks (Seattle)GNAL
SuperfamilyP38405
Human Protein AtlasENSG00000141404
Peptide AtlasP38405
HPRD00758
IPIIPI00006395   IPI00645002   IPI00329305   IPI00788932   
Protein Interaction databases
DIP (DOE-UCLA)P38405
IntAct (EBI)P38405
FunCoupENSG00000141404
BioGRIDGNAL
STRING (EMBL)GNAL
ZODIACGNAL
Ontologies - Pathways
QuickGOP38405
Ontology : AmiGOG-protein coupled receptor binding  GTPase activity  signal transducer activity  GTP binding  heterotrimeric G-protein complex  plasma membrane  signal transduction  adenylate cyclase-activating G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  adenylate cyclase-activating dopamine receptor signaling pathway  adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway  sensory perception of smell  G-protein beta/gamma-subunit complex binding  metal ion binding  extracellular exosome  
Ontology : EGO-EBIG-protein coupled receptor binding  GTPase activity  signal transducer activity  GTP binding  heterotrimeric G-protein complex  plasma membrane  signal transduction  adenylate cyclase-activating G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  adenylate cyclase-activating dopamine receptor signaling pathway  adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway  sensory perception of smell  G-protein beta/gamma-subunit complex binding  metal ion binding  extracellular exosome  
Pathways : KEGGCalcium signaling pathway    Dopaminergic synapse    Olfactory transduction    Parkinson's disease    Chagas disease (American trypanosomiasis)    Amoebiasis   
NDEx NetworkGNAL
Atlas of Cancer Signalling NetworkGNAL
Wikipedia pathwaysGNAL
Orthology - Evolution
OrthoDB2774
GeneTree (enSembl)ENSG00000141404
Phylogenetic Trees/Animal Genes : TreeFamGNAL
HOVERGENP38405
HOGENOMP38405
Homologs : HomoloGeneGNAL
Homology/Alignments : Family Browser (UCSC)GNAL
Gene fusions - Rearrangements
Fusion : MitelmanGNAL/CSNK1E [18p11.21/22q13.1]  
Fusion : MitelmanLAMA3/GNAL [18q11.2/18p11.21]  [t(18;18)(p11;q11)]  
Fusion : MitelmanPER3/GNAL [1p36.23/18p11.21]  [t(1;18)(p36;p11)]  
Fusion: TCGAGNAL 18p11.21 CSNK1E 22q13.1 BRCA
Fusion: TCGALAMA3 18q11.2 GNAL 18p11.21 LUAD
Fusion: TCGAPER3 1p36.23 GNAL 18p11.21 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGNAL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GNAL
dbVarGNAL
ClinVarGNAL
1000_GenomesGNAL 
Exome Variant ServerGNAL
ExAC (Exome Aggregation Consortium)GNAL (select the gene name)
Genetic variants : HAPMAP2774
Genomic Variants (DGV)GNAL [DGVbeta]
DECIPHERGNAL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGNAL 
Mutations
ICGC Data PortalGNAL 
TCGA Data PortalGNAL 
Broad Tumor PortalGNAL
OASIS PortalGNAL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGNAL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGNAL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GNAL
DgiDB (Drug Gene Interaction Database)GNAL
DoCM (Curated mutations)GNAL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GNAL (select a term)
intoGenGNAL
Cancer3DGNAL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM139312    615073   
Orphanet21934   
MedgenGNAL
Genetic Testing Registry GNAL
NextProtP38405 [Medical]
TSGene2774
GENETestsGNAL
Huge Navigator GNAL [HugePedia]
snp3D : Map Gene to Disease2774
BioCentury BCIQGNAL
ClinGenGNAL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2774
Chemical/Pharm GKB GenePA28770
Clinical trialGNAL
Miscellaneous
canSAR (ICR)GNAL (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGNAL
EVEXGNAL
GoPubMedGNAL
iHOPGNAL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:17:29 CEST 2017

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