Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EFNA5 (ephrin A5)

Identity

Alias_namesEPLG7
ephrin-A5
Alias_symbol (synonym)AF1
LERK7
Other aliasEFL5
GLC1M
RAGS
HGNC (Hugo) EFNA5
LocusID (NCBI) 1946
Atlas_Id 40414
Location 5q21.3  [Link to chromosome band 5q21]
Location_base_pair Starts at 106712590 and ends at 107006596 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EFNA5 (5q21.3) / FBXL17 (5q21.3)EFNA5 (5q21.3) / FGD4 (12p11.21)EFNA5 (5q21.3) / IQGAP1 (15q26.1)
EFNA5 (5q21.3) / RPS23 (5q14.2)FAM172A (5q15) / EFNA5 (5q21.3)KMT2A (11q23.3) / EFNA5 (5q21.3)
FAM172A 5q15 / EFNA5 5q21.3

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)EFNA5   3225
Cards
Entrez_Gene (NCBI)EFNA5  1946  ephrin A5
AliasesAF1; EFL5; EPLG7; GLC1M; 
LERK7; RAGS
GeneCards (Weizmann)EFNA5
Ensembl hg19 (Hinxton)ENSG00000184349 [Gene_View]  chr5:106712590-107006596 [Contig_View]  EFNA5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000184349 [Gene_View]  chr5:106712590-107006596 [Contig_View]  EFNA5 [Vega]
ICGC DataPortalENSG00000184349
TCGA cBioPortalEFNA5
AceView (NCBI)EFNA5
Genatlas (Paris)EFNA5
WikiGenes1946
SOURCE (Princeton)EFNA5
Genetics Home Reference (NIH)EFNA5
Genomic and cartography
GoldenPath hg19 (UCSC)EFNA5  -     chr5:106712590-107006596 -  5q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFNA5  -     5q21.3   [Description]    (hg38-Dec_2013)
EnsemblEFNA5 - 5q21.3 [CytoView hg19]  EFNA5 - 5q21.3 [CytoView hg38]
Mapping of homologs : NCBIEFNA5 [Mapview hg19]  EFNA5 [Mapview hg38]
OMIM601535   
Gene and transcription
Genbank (Entrez)AK025909 AK308672 BC075054 BC075055 U26403
RefSeq transcript (Entrez)NM_001962
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)EFNA5
Cluster EST : UnigeneHs.288741 [ NCBI ]
CGAP (NCI)Hs.288741
Alternative Splicing GalleryENSG00000184349
Gene ExpressionEFNA5 [ NCBI-GEO ]   EFNA5 [ EBI - ARRAY_EXPRESS ]   EFNA5 [ SEEK ]   EFNA5 [ MEM ]
Gene Expression Viewer (FireBrowse)EFNA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1946
GTEX Portal (Tissue expression)EFNA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52803   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP52803  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52803
Splice isoforms : SwissVarP52803
PhosPhoSitePlusP52803
Domaine pattern : Prosite (Expaxy)EPHRIN_RBD_1 (PS01299)    EPHRIN_RBD_2 (PS51551)   
Domains : Interpro (EBI)Cupredoxin    Ephrin    Ephrin_CS    Ephrin_RBD   
Domain families : Pfam (Sanger)Ephrin (PF00812)   
Domain families : Pfam (NCBI)pfam00812   
Domain structure : Prodom (Prabi Lyon)Ephrin (PD002533)   
Conserved Domain (NCBI)EFNA5
DMDM Disease mutations1946
Blocks (Seattle)EFNA5
PDB (SRS)2X11    3MX0    4BK5    4BKA    4L0P    4M4R   
PDB (PDBSum)2X11    3MX0    4BK5    4BKA    4L0P    4M4R   
PDB (IMB)2X11    3MX0    4BK5    4BKA    4L0P    4M4R   
PDB (RSDB)2X11    3MX0    4BK5    4BKA    4L0P    4M4R   
Structural Biology KnowledgeBase2X11    3MX0    4BK5    4BKA    4L0P    4M4R   
SCOP (Structural Classification of Proteins)2X11    3MX0    4BK5    4BKA    4L0P    4M4R   
CATH (Classification of proteins structures)2X11    3MX0    4BK5    4BKA    4L0P    4M4R   
SuperfamilyP52803
Human Protein AtlasENSG00000184349
Peptide AtlasP52803
HPRD03324
IPIIPI00005517   IPI00966319   
Protein Interaction databases
DIP (DOE-UCLA)P52803
IntAct (EBI)P52803
FunCoupENSG00000184349
BioGRIDEFNA5
STRING (EMBL)EFNA5
ZODIACEFNA5
Ontologies - Pathways
QuickGOP52803
Ontology : AmiGOpositive regulation of protein phosphorylation  neurotrophin TRKA receptor binding  neurotrophin TRKB receptor binding  neurotrophin TRKC receptor binding  extracellular region  plasma membrane  plasma membrane  caveola  apoptotic process  activation of transmembrane receptor protein tyrosine kinase activity  nervous system development  axon guidance  regulation of cell-cell adhesion  regulation of cell morphogenesis  transmembrane receptor protein tyrosine kinase activator activity  retinal ganglion cell axon guidance  anchored component of external side of plasma membrane  regulation of actin cytoskeleton organization  regulation of GTPase activity  regulation of GTPase activity  chemorepellent activity  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  collateral sprouting  positive regulation of collateral sprouting  positive regulation of peptidyl-tyrosine phosphorylation  negative chemotaxis  regulation of focal adhesion assembly  positive regulation of synapse assembly  regulation of insulin secretion involved in cellular response to glucose stimulus  regulation of microtubule cytoskeleton organization  negative regulation of substrate adhesion-dependent cell spreading  
Ontology : EGO-EBIpositive regulation of protein phosphorylation  neurotrophin TRKA receptor binding  neurotrophin TRKB receptor binding  neurotrophin TRKC receptor binding  extracellular region  plasma membrane  plasma membrane  caveola  apoptotic process  activation of transmembrane receptor protein tyrosine kinase activity  nervous system development  axon guidance  regulation of cell-cell adhesion  regulation of cell morphogenesis  transmembrane receptor protein tyrosine kinase activator activity  retinal ganglion cell axon guidance  anchored component of external side of plasma membrane  regulation of actin cytoskeleton organization  regulation of GTPase activity  regulation of GTPase activity  chemorepellent activity  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  collateral sprouting  positive regulation of collateral sprouting  positive regulation of peptidyl-tyrosine phosphorylation  negative chemotaxis  regulation of focal adhesion assembly  positive regulation of synapse assembly  regulation of insulin secretion involved in cellular response to glucose stimulus  regulation of microtubule cytoskeleton organization  negative regulation of substrate adhesion-dependent cell spreading  
Pathways : KEGGRas signaling pathway    Rap1 signaling pathway    PI3K-Akt signaling pathway    Axon guidance   
NDEx NetworkEFNA5
Atlas of Cancer Signalling NetworkEFNA5
Wikipedia pathwaysEFNA5
Orthology - Evolution
OrthoDB1946
GeneTree (enSembl)ENSG00000184349
Phylogenetic Trees/Animal Genes : TreeFamEFNA5
HOVERGENP52803
HOGENOMP52803
Homologs : HomoloGeneEFNA5
Homology/Alignments : Family Browser (UCSC)EFNA5
Gene fusions - Rearrangements
Fusion : MitelmanFAM172A/EFNA5 [5q15/5q21.3]  [t(5;5)(q15;q21)]  
Fusion: TCGAFAM172A 5q15 EFNA5 5q21.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFNA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFNA5
dbVarEFNA5
ClinVarEFNA5
1000_GenomesEFNA5 
Exome Variant ServerEFNA5
ExAC (Exome Aggregation Consortium)EFNA5 (select the gene name)
Genetic variants : HAPMAP1946
Genomic Variants (DGV)EFNA5 [DGVbeta]
DECIPHER (Syndromes)5:106712590-107006596  ENSG00000184349
CONAN: Copy Number AnalysisEFNA5 
Mutations
ICGC Data PortalEFNA5 
TCGA Data PortalEFNA5 
Broad Tumor PortalEFNA5
OASIS PortalEFNA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFNA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFNA5
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 EFNA5
DgiDB (Drug Gene Interaction Database)EFNA5
DoCM (Curated mutations)EFNA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFNA5 (select a term)
intoGenEFNA5
Cancer3DEFNA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601535   
Orphanet
MedgenEFNA5
Genetic Testing Registry EFNA5
NextProtP52803 [Medical]
TSGene1946
GENETestsEFNA5
Huge Navigator EFNA5 [HugePedia]
snp3D : Map Gene to Disease1946
BioCentury BCIQEFNA5
ClinGenEFNA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1946
Chemical/Pharm GKB GenePA27660
Clinical trialEFNA5
Miscellaneous
canSAR (ICR)EFNA5 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFNA5
EVEXEFNA5
GoPubMedEFNA5
iHOPEFNA5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:59:46 CEST 2017

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