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NGEF (neuronal guanine nucleotide exchange factor)

Identity

Alias_symbol (synonym)ARHGEF27
Other aliasEPHEXIN
HGNC (Hugo) NGEF
LocusID (NCBI) 25791
Atlas_Id 43378
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 232878686 and ends at 232928151 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NGEF (2q37.1) / NGEF (2q37.1)

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)NGEF   7807
Cards
Entrez_Gene (NCBI)NGEF  25791  neuronal guanine nucleotide exchange factor
AliasesARHGEF27; EPHEXIN
GeneCards (Weizmann)NGEF
Ensembl hg19 (Hinxton)ENSG00000066248 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000066248 [Gene_View]  chr2:232878686-232928151 [Contig_View]  NGEF [Vega]
ICGC DataPortalENSG00000066248
TCGA cBioPortalNGEF
AceView (NCBI)NGEF
Genatlas (Paris)NGEF
WikiGenes25791
SOURCE (Princeton)NGEF
Genetics Home Reference (NIH)NGEF
Genomic and cartography
GoldenPath hg38 (UCSC)NGEF  -     chr2:232878686-232928151 -  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NGEF  -     2q37.1   [Description]    (hg19-Feb_2009)
EnsemblNGEF - 2q37.1 [CytoView hg19]  NGEF - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBINGEF [Mapview hg19]  NGEF [Mapview hg38]
OMIM605991   
Gene and transcription
Genbank (Entrez)AJ238899 AK293203 AK297390 AK298315 AK300953
RefSeq transcript (Entrez)NM_001114090 NM_019850
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NGEF
Cluster EST : UnigeneHs.97316 [ NCBI ]
CGAP (NCI)Hs.97316
Alternative Splicing GalleryENSG00000066248
Gene ExpressionNGEF [ NCBI-GEO ]   NGEF [ EBI - ARRAY_EXPRESS ]   NGEF [ SEEK ]   NGEF [ MEM ]
Gene Expression Viewer (FireBrowse)NGEF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25791
GTEX Portal (Tissue expression)NGEF
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N5V2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N5V2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N5V2
Splice isoforms : SwissVarQ8N5V2
PhosPhoSitePlusQ8N5V2
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)DH-domain    PH_dom-like    PH_domain    SH3_domain   
Domain families : Pfam (Sanger)PH (PF00169)    RhoGEF (PF00621)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00169    pfam00621    pfam00018   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  SH3 (SM00326)  
Conserved Domain (NCBI)NGEF
DMDM Disease mutations25791
Blocks (Seattle)NGEF
SuperfamilyQ8N5V2
Human Protein AtlasENSG00000066248
Peptide AtlasQ8N5V2
HPRD10442
IPIIPI00166928   IPI00917951   IPI00953490   IPI01010746   IPI00749021   IPI00916065   IPI00915861   IPI00916004   IPI00917868   
Protein Interaction databases
DIP (DOE-UCLA)Q8N5V2
IntAct (EBI)Q8N5V2
FunCoupENSG00000066248
BioGRIDNGEF
STRING (EMBL)NGEF
ZODIACNGEF
Ontologies - Pathways
QuickGOQ8N5V2
Ontology : AmiGOguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytosol  membrane  growth cone  regulation of Rho protein signal transduction  positive regulation of apoptotic process  regulation of GTPase activity  positive regulation of GTPase activity  ephrin receptor signaling pathway  ephrin receptor signaling pathway  regulation of small GTPase mediated signal transduction  negative regulation of dendritic spine morphogenesis  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytosol  membrane  growth cone  regulation of Rho protein signal transduction  positive regulation of apoptotic process  regulation of GTPase activity  positive regulation of GTPase activity  ephrin receptor signaling pathway  ephrin receptor signaling pathway  regulation of small GTPase mediated signal transduction  negative regulation of dendritic spine morphogenesis  
Pathways : KEGGAxon guidance   
NDEx NetworkNGEF
Atlas of Cancer Signalling NetworkNGEF
Wikipedia pathwaysNGEF
Orthology - Evolution
OrthoDB25791
GeneTree (enSembl)ENSG00000066248
Phylogenetic Trees/Animal Genes : TreeFamNGEF
HOVERGENQ8N5V2
HOGENOMQ8N5V2
Homologs : HomoloGeneNGEF
Homology/Alignments : Family Browser (UCSC)NGEF
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNGEF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NGEF
dbVarNGEF
ClinVarNGEF
1000_GenomesNGEF 
Exome Variant ServerNGEF
ExAC (Exome Aggregation Consortium)NGEF (select the gene name)
Genetic variants : HAPMAP25791
Genomic Variants (DGV)NGEF [DGVbeta]
DECIPHERNGEF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNGEF 
Mutations
ICGC Data PortalNGEF 
TCGA Data PortalNGEF 
Broad Tumor PortalNGEF
OASIS PortalNGEF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNGEF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNGEF
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 NGEF
DgiDB (Drug Gene Interaction Database)NGEF
DoCM (Curated mutations)NGEF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NGEF (select a term)
intoGenNGEF
Cancer3DNGEF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605991   
Orphanet
MedgenNGEF
Genetic Testing Registry NGEF
NextProtQ8N5V2 [Medical]
TSGene25791
GENETestsNGEF
Target ValidationNGEF
Huge Navigator NGEF [HugePedia]
snp3D : Map Gene to Disease25791
BioCentury BCIQNGEF
ClinGenNGEF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25791
Chemical/Pharm GKB GenePA31613
Clinical trialNGEF
Miscellaneous
canSAR (ICR)NGEF (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNGEF
EVEXNGEF
GoPubMedNGEF
iHOPNGEF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:46:48 CEST 2017

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