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EPHA6 (EPH receptor A6)

Identity

Alias_symbol (synonym)FLJ35246
Other aliasEHK-2
EHK2
EK12
EPA6
HEK12
PRO57066
HGNC (Hugo) EPHA6
LocusID (NCBI) 285220
Atlas_Id 43244
Location 3q11.2  [Link to chromosome band 3q11]
Location_base_pair Starts at 96814581 and ends at 97748942 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALCAM (3q13.11) / EPHA6 (3q11.2)EPHA6 (3q11.2) / CNTN6 (3p26.3)EPHA6 (3q11.2) / TRMT10C (3q12.3)
EPHA6 (3q11.2) / ZNF207 (17q11.2)ETV6 (12p13.2) / EPHA6 (3q11.2)KDM5C (Xp11.22) / EPHA6 (3q11.2)
NPEPPS (17q21.32) / EPHA6 (3q11.2)PCYT1A (3q29) / EPHA6 (3q11.2)RBM5 (3p21.31) / EPHA6 (3q11.2)
RPL36A-HNRNPH2 (Xq22.1) / EPHA6 (3q11.2)TMEM39A (3q13.33) / EPHA6 (3q11.2)ZBTB20 (3q13.31) / EPHA6 (3q11.2)
EPHA6 3q11.2 / CNTN6 3p26.3EPHA6 3q11.2 RG9MTD1PCYT1A 3q29 / EPHA6 3q11.2
TMEM39A 3q13.33 / EPHA6 3q11.2ZBTB20 3q13.31 / EPHA6 3q11.2

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Small Cell Carcinoma
Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)EPHA6   19296
Cards
Entrez_Gene (NCBI)EPHA6  285220  EPH receptor A6
AliasesEHK-2; EHK2; EK12; EPA6; 
HEK12; PRO57066
GeneCards (Weizmann)EPHA6
Ensembl hg19 (Hinxton)ENSG00000080224 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000080224 [Gene_View]  chr3:96814581-97748942 [Contig_View]  EPHA6 [Vega]
ICGC DataPortalENSG00000080224
TCGA cBioPortalEPHA6
AceView (NCBI)EPHA6
Genatlas (Paris)EPHA6
WikiGenes285220
SOURCE (Princeton)EPHA6
Genetics Home Reference (NIH)EPHA6
Genomic and cartography
GoldenPath hg38 (UCSC)EPHA6  -     chr3:96814581-97748942 +  3q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPHA6  -     3q11.2   [Description]    (hg19-Feb_2009)
EnsemblEPHA6 - 3q11.2 [CytoView hg19]  EPHA6 - 3q11.2 [CytoView hg38]
Mapping of homologs : NCBIEPHA6 [Mapview hg19]  EPHA6 [Mapview hg38]
OMIM600066   
Gene and transcription
Genbank (Entrez)AK000957 AK092565 AK302040 AK302080 AK310249
RefSeq transcript (Entrez)NM_001080448 NM_001278300 NM_001278301 NM_173655
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPHA6
Cluster EST : UnigeneHs.653244 [ NCBI ]
CGAP (NCI)Hs.653244
Alternative Splicing GalleryENSG00000080224
Gene ExpressionEPHA6 [ NCBI-GEO ]   EPHA6 [ EBI - ARRAY_EXPRESS ]   EPHA6 [ SEEK ]   EPHA6 [ MEM ]
Gene Expression Viewer (FireBrowse)EPHA6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)285220
GTEX Portal (Tissue expression)EPHA6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UF33   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UF33  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UF33
Splice isoforms : SwissVarQ9UF33
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   
PhosPhoSitePlusQ9UF33
Domaine pattern : Prosite (Expaxy)EPH_LBD (PS51550)    FN3 (PS50853)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    RECEPTOR_TYR_KIN_V_1 (PS00790)    RECEPTOR_TYR_KIN_V_2 (PS00791)    SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)###############################################################################################################################################################################################################################################################                                                                       
Domain families : Pfam (Sanger)EphA2_TM (PF14575)    Ephrin_lbd (PF01404)    fn3 (PF00041)    Pkinase_Tyr (PF07714)    SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam14575    pfam01404    pfam00041    pfam07714    pfam00536   
Domain families : Smart (EMBL)EPH_lbd (SM00615)  Ephrin_rec_like (SM01411)  FN3 (SM00060)  SAM (SM00454)  TyrKc (SM00219)  
Conserved Domain (NCBI)EPHA6
DMDM Disease mutations285220
Blocks (Seattle)EPHA6
SuperfamilyQ9UF33
Human Protein AtlasENSG00000080224
Peptide AtlasQ9UF33
IPIIPI00981691   IPI00783604   IPI00984048   IPI01011681   IPI00968017   IPI00945901   IPI00965495   IPI00910788   IPI00964609   
Protein Interaction databases
DIP (DOE-UCLA)Q9UF33
IntAct (EBI)Q9UF33
FunCoupENSG00000080224
BioGRIDEPHA6
STRING (EMBL)EPHA6
ZODIACEPHA6
Ontologies - Pathways
QuickGOQ9UF33
Ontology : AmiGOmolecular_function  ephrin receptor activity  ATP binding  cellular_component  nucleoplasm  plasma membrane  integral component of plasma membrane  biological_process  peptidyl-tyrosine phosphorylation  ephrin receptor signaling pathway  
Ontology : EGO-EBImolecular_function  ephrin receptor activity  ATP binding  cellular_component  nucleoplasm  plasma membrane  integral component of plasma membrane  biological_process  peptidyl-tyrosine phosphorylation  ephrin receptor signaling pathway  
Pathways : KEGGAxon guidance   
NDEx NetworkEPHA6
Atlas of Cancer Signalling NetworkEPHA6
Wikipedia pathwaysEPHA6
Orthology - Evolution
OrthoDB285220
GeneTree (enSembl)ENSG00000080224
Phylogenetic Trees/Animal Genes : TreeFamEPHA6
HOVERGENQ9UF33
HOGENOMQ9UF33
Homologs : HomoloGeneEPHA6
Homology/Alignments : Family Browser (UCSC)EPHA6
Gene fusions - Rearrangements
Fusion : MitelmanALCAM/EPHA6 [3q13.11/3q11.2]  [t(3;3)(q11;q13)]  
Fusion : MitelmanEPHA6/CNTN6 [3q11.2/3p26.3]  [t(3;3)(p26;q11)]  
Fusion : MitelmanEPHA6/TRMT10C [3q11.2/3q12.3]  [t(3;3)(q11;q12)]  
Fusion : MitelmanNPEPPS/EPHA6 [17q21.32/3q11.2]  [t(3;17)(q11;q21)]  
Fusion : MitelmanPCYT1A/EPHA6 [3q29/3q11.2]  [t(3;3)(q11;q29)]  
Fusion : MitelmanTMEM39A/EPHA6 [3q13.33/3q11.2]  [t(3;3)(q11;q13)]  
Fusion : MitelmanZBTB20/EPHA6 [3q13.31/3q11.2]  [t(3;3)(q11;q13)]  
Fusion: TCGAEPHA6 3q11.2 CNTN6 3p26.3 PRAD
Fusion: TCGAEPHA6 3q11.2 RG9MTD1 BRCA
Fusion: TCGAPCYT1A 3q29 EPHA6 3q11.2 PRAD
Fusion: TCGATMEM39A 3q13.33 EPHA6 3q11.2 PRAD
Fusion: TCGAZBTB20 3q13.31 EPHA6 3q11.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPHA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPHA6
dbVarEPHA6
ClinVarEPHA6
1000_GenomesEPHA6 
Exome Variant ServerEPHA6
ExAC (Exome Aggregation Consortium)EPHA6 (select the gene name)
Genetic variants : HAPMAP285220
Genomic Variants (DGV)EPHA6 [DGVbeta]
DECIPHEREPHA6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPHA6 
Mutations
ICGC Data PortalEPHA6 
TCGA Data PortalEPHA6 
Broad Tumor PortalEPHA6
OASIS PortalEPHA6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPHA6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPHA6
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 EPHA6
DgiDB (Drug Gene Interaction Database)EPHA6
DoCM (Curated mutations)EPHA6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPHA6 (select a term)
intoGenEPHA6
Cancer3DEPHA6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600066   
Orphanet
MedgenEPHA6
Genetic Testing Registry EPHA6
NextProtQ9UF33 [Medical]
TSGene285220
GENETestsEPHA6
Target ValidationEPHA6
Huge Navigator EPHA6 [HugePedia]
snp3D : Map Gene to Disease285220
BioCentury BCIQEPHA6
ClinGenEPHA6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD285220
Chemical/Pharm GKB GenePA134866684
Clinical trialEPHA6
Miscellaneous
canSAR (ICR)EPHA6 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPHA6
EVEXEPHA6
GoPubMedEPHA6
iHOPEPHA6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:32:42 CEST 2017

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