Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GEM (GTP binding protein overexpressed in skeletal muscle)

Identity

Alias_namesGTP-binding protein overexpressed in skeletal muscle
Alias_symbol (synonym)KIR
Other alias
HGNC (Hugo) GEM
LocusID (NCBI) 2669
Atlas_Id 276
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 94249257 and ends at 94262319 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)GEM   4234
Cards
Entrez_Gene (NCBI)GEM  2669  GTP binding protein overexpressed in skeletal muscle
AliasesKIR
GeneCards (Weizmann)GEM
Ensembl hg19 (Hinxton)ENSG00000164949 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164949 [Gene_View]  ENSG00000164949 [Sequence]  chr8:94249257-94262319 [Contig_View]  GEM [Vega]
ICGC DataPortalENSG00000164949
TCGA cBioPortalGEM
AceView (NCBI)GEM
Genatlas (Paris)GEM
WikiGenes2669
SOURCE (Princeton)GEM
Genetics Home Reference (NIH)GEM
Genomic and cartography
GoldenPath hg38 (UCSC)GEM  -     chr8:94249257-94262319 -  8q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GEM  -     8q22.1   [Description]    (hg19-Feb_2009)
GoldenPathGEM - 8q22.1 [CytoView hg19]  GEM - 8q22.1 [CytoView hg38]
ImmunoBaseENSG00000164949
genome Data Viewer NCBIGEM [Mapview hg19]  
OMIM600164   
Gene and transcription
Genbank (Entrez)AK314017 BC022010 BI759640 DB018783 U10550
RefSeq transcript (Entrez)NM_005261 NM_181702
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GEM
Alternative Splicing GalleryENSG00000164949
Gene ExpressionGEM [ NCBI-GEO ]   GEM [ EBI - ARRAY_EXPRESS ]   GEM [ SEEK ]   GEM [ MEM ]
Gene Expression Viewer (FireBrowse)GEM [ Firebrowse - Broad ]
GenevisibleExpression of GEM in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2669
GTEX Portal (Tissue expression)GEM
Human Protein AtlasENSG00000164949-GEM [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55040   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55040  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55040
Splice isoforms : SwissVarP55040
PhosPhoSitePlusP55040
Domaine pattern : Prosite (Expaxy)RAS (PS51421)   
Domains : Interpro (EBI)P-loop_NTPase    RGK    Small_GTP-bd_dom    Small_GTPase    Small_GTPase_Ras-type   
Domain families : Pfam (Sanger)Ras (PF00071)   
Domain families : Pfam (NCBI)pfam00071   
Conserved Domain (NCBI)GEM
DMDM Disease mutations2669
Blocks (Seattle)GEM
PDB (RSDB)2CJW    2G3Y    2HT6   
PDB Europe2CJW    2G3Y    2HT6   
PDB (PDBSum)2CJW    2G3Y    2HT6   
PDB (IMB)2CJW    2G3Y    2HT6   
Structural Biology KnowledgeBase2CJW    2G3Y    2HT6   
SCOP (Structural Classification of Proteins)2CJW    2G3Y    2HT6   
CATH (Classification of proteins structures)2CJW    2G3Y    2HT6   
SuperfamilyP55040
Human Protein Atlas [tissue]ENSG00000164949-GEM [tissue]
Peptide AtlasP55040
HPRD11553
IPIIPI00022710   IPI01014796   
Protein Interaction databases
DIP (DOE-UCLA)P55040
IntAct (EBI)P55040
FunCoupENSG00000164949
BioGRIDGEM
STRING (EMBL)GEM
ZODIACGEM
Ontologies - Pathways
QuickGOP55040
Ontology : AmiGOmitotic cell cycle  magnesium ion binding  GTPase activity  calcium channel regulator activity  protein binding  calmodulin binding  GTP binding  GTP binding  nucleus  plasma membrane  immune response  signal transduction  cell surface receptor signaling pathway  cytoplasmic side of plasma membrane  GDP binding  midbody  spindle midzone  chromosome organization  metaphase plate congression  mitotic spindle  negative regulation of high voltage-gated calcium channel activity  
Ontology : EGO-EBImitotic cell cycle  magnesium ion binding  GTPase activity  calcium channel regulator activity  protein binding  calmodulin binding  GTP binding  GTP binding  nucleus  plasma membrane  immune response  signal transduction  cell surface receptor signaling pathway  cytoplasmic side of plasma membrane  GDP binding  midbody  spindle midzone  chromosome organization  metaphase plate congression  mitotic spindle  negative regulation of high voltage-gated calcium channel activity  
NDEx NetworkGEM
Atlas of Cancer Signalling NetworkGEM
Wikipedia pathwaysGEM
Orthology - Evolution
OrthoDB2669
GeneTree (enSembl)ENSG00000164949
Phylogenetic Trees/Animal Genes : TreeFamGEM
HOGENOMP55040
Homologs : HomoloGeneGEM
Homology/Alignments : Family Browser (UCSC)GEM
Gene fusions - Rearrangements
Fusion : QuiverGEM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGEM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GEM
dbVarGEM
ClinVarGEM
1000_GenomesGEM 
Exome Variant ServerGEM
GNOMAD BrowserENSG00000164949
Varsome BrowserGEM
Genetic variants : HAPMAP2669
Genomic Variants (DGV)GEM [DGVbeta]
DECIPHERGEM [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGEM 
Mutations
ICGC Data PortalGEM 
TCGA Data PortalGEM 
Broad Tumor PortalGEM
OASIS PortalGEM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGEM  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGEM
Mutations and Diseases : HGMDGEM
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GEM
DgiDB (Drug Gene Interaction Database)GEM
DoCM (Curated mutations)GEM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GEM (select a term)
intoGenGEM
Cancer3DGEM(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600164   
Orphanet
DisGeNETGEM
MedgenGEM
Genetic Testing Registry GEM
NextProtP55040 [Medical]
TSGene2669
GENETestsGEM
Target ValidationGEM
Huge Navigator GEM [HugePedia]
snp3D : Map Gene to Disease2669
BioCentury BCIQGEM
ClinGenGEM
Clinical trials, drugs, therapy
Protein Interactions : CTD2669
Pharm GKB GenePA28645
Clinical trialGEM
Miscellaneous
canSAR (ICR)GEM (select the gene name)
HarmonizomeGEM
DataMed IndexGEM
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGEM
EVEXGEM
GoPubMedGEM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jul 10 19:19:33 CEST 2020
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