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EPHA7 (EPH receptor A7)

Written2007-02Haruhiko Sugimura, Hiroki Mori, Tomoyasu Bunai, Masaya Suzuki
First Department of Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, Shizuoka 431-3192, Japan

(Note : for Links provided by Atlas : click)

Identity

Other namesEHK3
HEK11
HGNC (Hugo) EPHA7
LocusID (NCBI) 2045
Atlas_Id 40466
Location 6q16.1  [Link to chromosome band 6q16]
Location_base_pair Starts at 93949740 and ends at 94129300 bp from pter ( according to hg19-Feb_2009)  [Mapping EPHA7.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
EPHA7 (6q16.1) / DAB2IP (9q33.2)

DNA/RNA

Description The EPHA7 gene maps on chromosome 6q16.1 spanning 178,134 bp. it contains 17 exons, the orientation of the gene is complement.
Transcription rTanscript of 5,229 bp.

Protein

 
Description EPHA7 encodes 998 amino acids, theoretical pI is 5.58, theoretical molecular weight is 112 KDa, tyrosine kinase, catalytic domain, sterile alpha motif, 2 fibronectin type 3 domains, ephrin receptor ligand binding domain and tumor necrosis factor receptor domain.
Expression in brain, skeletal muscle, lung, kidney, liver, colorectum and nerve system.
Localisation Located in the membrane.
Function ATP Binding, ephrin receptor activity, nucleotide binding, protein binding, receptor activity, transferase activity.
Homology Homo sapiens: EPHA5 isoform b [NP_872272] (64%), EPHA5 isoform a [NP_004430] (63%), EPHA4 [NP_004429] (63%), EPHA3 [AAG43576] (63%).

Implicated in

Note
Entity Colorectal cancer
Note A significant reduction of EphA7 expression in human colorectal cancers was shown using semiquantitative reverse transcription-polymerase chain reaction analysis in 59 colorectal cancer tissues, compared to corresponding normal mucosas (P=0.008), and five colon cancer cell lines. To investigate the mechanism of EphA7 downregulation in colorectal cancer, we examined the methylation status of the 5'CpG island around the translation start site in five colon cancer cell lines using restriction enzymes, methylation-specific PCR, and bisulfite sequencing and found evidence of aberrant methylation. The expression of EphA7 in colon cancer cell lines was restored after treatment with 5-aza-2'-deoxycytidine. Analysis of methylation status in totally 75 tumors compared to clinicopathological parameters revealed that hypermethylation of colorectal cancers was more frequent in male than in female, and in moderately differentiated than in well-differentiated adenocarcinomas. There was a tendency that hypermethylation in rectal cancers was more frequent than in colon cancers. Hypermethylation was also observed in colorectal adenomas. This is the first report describing the downregulation of an Eph family gene in a solid tumor via aberrant 5'CpG island methylation. It provides the evidence that EphA7 gene is involved in human colorectal carcinogenesis.
  

Bibliography

Inhibition of EphA7 up-regulation after spinal cord injury reduces apoptosis and promotes locomotor recovery.
Figueroa JD, Benton RL, Velazquez I, Torrado AI, Ortiz CM, Hernandez CM, Diaz JJ, Magnuson DS, Whittemore SR, Miranda JD
Journal of neuroscience research. 2006 ; 84 (7) : 1438-1451.
PMID 16983667
 
Expression profile of Eph receptors and ephrin ligands in human skin and downregulation of EphA1 in nonmelanoma skin cancer.
Hafner C, Becker B, Landthaler M, Vogt T
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 2006 ; 19 (10) : 1369-1377.
PMID 16862074
 
Differential gene expression of Eph receptors and ephrins in benign human tissues and cancers.
Hafner C, Schmitz G, Meyer S, Bataille F, Hau P, Langmann T, Dietmaier W, Landthaler M, Vogt T
Clinical chemistry. 2004 ; 50 (3) : 490-499.
PMID 14726470
 
Regulation of repulsion versus adhesion by different splice forms of an Eph receptor.
Holmberg J, Clarke DL, Frisén J
Nature. 2000 ; 408 (6809) : 203-206.
PMID 11089974
 
Absence of tyrosine kinase mutations in Japanese colorectal cancer patients.
Shao RX, Kato N, Lin LJ, Muroyama R, Moriyama M, Ikenoue T, Watabe H, Otsuka M, Guleng B, Ohta M, Tanaka Y, Kondo S, Dharel N, Chang JH, Yoshida H, Kawabe T, Omata M
Oncogene. 2007 ; 26 (14) : 2133-2135.
PMID 17016444
 
Downregulation of EphA7 by hypermethylation in colorectal cancer.
Wang J, Kataoka H, Suzuki M, Sato N, Nakamura R, Tao H, Maruyama K, Isogaki J, Kanaoka S, Ihara M, Tanaka M, Kanamori M, Nakamura T, Shinmura K, Sugimura H
Oncogene. 2005 ; 24 (36) : 5637-5647.
PMID 16007213
 
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X
American journal of human genetics. 2007 ; 80 (2) : 361-371.
PMID 17236141
 

Citation

This paper should be referenced as such :
Mori, H ; Sugimura, H ; Suzuki, M ; Bunai, T
EPHA7 (EPH receptor A7)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(3):186-187.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/EPHA7ID40466ch6q16.html


External links

Nomenclature
HGNC (Hugo)EPHA7   3390
Cards
AtlasEPHA7ID40466ch6q16
Entrez_Gene (NCBI)EPHA7  2045  EPH receptor A7
AliasesEHK-3; EHK3; EK11; HEK11
GeneCards (Weizmann)EPHA7
Ensembl hg19 (Hinxton)ENSG00000135333 [Gene_View]  chr6:93949740-94129300 [Contig_View]  EPHA7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000135333 [Gene_View]  chr6:93949740-94129300 [Contig_View]  EPHA7 [Vega]
ICGC DataPortalENSG00000135333
TCGA cBioPortalEPHA7
AceView (NCBI)EPHA7
Genatlas (Paris)EPHA7
WikiGenes2045
SOURCE (Princeton)EPHA7
Genomic and cartography
GoldenPath hg19 (UCSC)EPHA7  -     chr6:93949740-94129300 -  6q16.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EPHA7  -     6q16.3   [Description]    (hg38-Dec_2013)
EnsemblEPHA7 - 6q16.3 [CytoView hg19]  EPHA7 - 6q16.3 [CytoView hg38]
Mapping of homologs : NCBIEPHA7 [Mapview hg19]  EPHA7 [Mapview hg38]
OMIM602190   
Gene and transcription
Genbank (Entrez)AB209269 AK313529 AL699163 BC027940 BC126125
RefSeq transcript (Entrez)NM_001288629 NM_001288630 NM_004440
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_033944 NT_025741 NW_004929327
Consensus coding sequences : CCDS (NCBI)EPHA7
Cluster EST : UnigeneHs.73962 [ NCBI ]
CGAP (NCI)Hs.73962
Alternative Splicing GalleryENSG00000135333
Gene ExpressionEPHA7 [ NCBI-GEO ]   EPHA7 [ EBI - ARRAY_EXPRESS ]   EPHA7 [ SEEK ]   EPHA7 [ MEM ]
Gene Expression Viewer (FireBrowse)EPHA7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2045
GTEX Portal (Tissue expression)EPHA7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15375 (Uniprot)
NextProtQ15375  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15375
Splice isoforms : SwissVarQ15375 (Swissvar)
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 ]   
PhosPhoSitePlusQ15375
Domaine pattern : Prosite (Expaxy)EGF_2 (PS01186)    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)Eph_TM    Ephrin_rcpt_lig-bd_dom    FN3_dom    Galactose-bd-like    Growth_fac_rcpt_    Ig-like_fold    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    SAM    SAM/pointed    Ser-Thr/Tyr_kinase_cat_dom    Tyr-kin_ephrin_A/B_rcpt-like    Tyr_kinase_AS    Tyr_kinase_cat_dom    Tyr_kinase_ephrin_rcpt    Tyr_kinase_rcpt_V_CS   
Domain families : Pfam (Sanger)EphA2_TM (PF14575)    Ephrin_lbd (PF01404)    fn3 (PF00041)    GCC2_GCC3 (PF07699)    Pkinase_Tyr (PF07714)    SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam14575    pfam01404    pfam00041    pfam07699    pfam07714    pfam00536   
Domain families : Smart (EMBL)EPH_lbd (SM00615)  FN3 (SM00060)  SAM (SM00454)  TyrKc (SM00219)  
DMDM Disease mutations2045
Blocks (Seattle)EPHA7
PDB (SRS)2REI    3DKO    3H8M    3NRU   
PDB (PDBSum)2REI    3DKO    3H8M    3NRU   
PDB (IMB)2REI    3DKO    3H8M    3NRU   
PDB (RSDB)2REI    3DKO    3H8M    3NRU   
Structural Biology KnowledgeBase2REI    3DKO    3H8M    3NRU   
SCOP (Structural Classification of Proteins)2REI    3DKO    3H8M    3NRU   
CATH (Classification of proteins structures)2REI    3DKO    3H8M    3NRU   
SuperfamilyQ15375
Human Protein AtlasENSG00000135333
Peptide AtlasQ15375
HPRD03721
IPIIPI00016645   IPI00607655   IPI00607878   
Protein Interaction databases
DIP (DOE-UCLA)Q15375
IntAct (EBI)Q15375
FunCoupENSG00000135333
BioGRIDEPHA7
STRING (EMBL)EPHA7
ZODIACEPHA7
Ontologies - Pathways
QuickGOQ15375
Ontology : AmiGOpositive regulation of protein phosphorylation  protein tyrosine kinase activity  GPI-linked ephrin receptor activity  protein binding  ATP binding  plasma membrane  integral component of plasma membrane  brain development  axon guidance receptor activity  phosphorylation  peptidyl-tyrosine phosphorylation  regulation of cell-cell adhesion  dendrite  retinal ganglion cell axon guidance  neuromuscular junction  regulation of protein autophosphorylation  neuronal cell body  regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of neuron apoptotic process  postsynaptic membrane  chemorepellent activity  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  negative regulation of collateral sprouting  branching morphogenesis of a nerve  regulation of peptidyl-tyrosine phosphorylation  negative chemotaxis  negative regulation of synapse assembly  regulation of ERK1 and ERK2 cascade  nephric duct morphogenesis  
Ontology : EGO-EBIpositive regulation of protein phosphorylation  protein tyrosine kinase activity  GPI-linked ephrin receptor activity  protein binding  ATP binding  plasma membrane  integral component of plasma membrane  brain development  axon guidance receptor activity  phosphorylation  peptidyl-tyrosine phosphorylation  regulation of cell-cell adhesion  dendrite  retinal ganglion cell axon guidance  neuromuscular junction  regulation of protein autophosphorylation  neuronal cell body  regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of neuron apoptotic process  postsynaptic membrane  chemorepellent activity  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  negative regulation of collateral sprouting  branching morphogenesis of a nerve  regulation of peptidyl-tyrosine phosphorylation  negative chemotaxis  negative regulation of synapse assembly  regulation of ERK1 and ERK2 cascade  nephric duct morphogenesis  
Pathways : KEGGAxon guidance   
REACTOMEQ15375 [protein]
REACTOME PathwaysR-HSA-3928663 EPHA-mediated growth cone collapse [pathway]
REACTOME PathwaysR-HSA-3928665 EPH-ephrin mediated repulsion of cells [pathway]
REACTOME PathwaysR-HSA-2682334 EPH-Ephrin signaling [pathway]
NDEx NetworkEPHA7
Atlas of Cancer Signalling NetworkEPHA7
Wikipedia pathwaysEPHA7
Orthology - Evolution
OrthoDB2045
GeneTree (enSembl)ENSG00000135333
Phylogenetic Trees/Animal Genes : TreeFamEPHA7
Homologs : HomoloGeneEPHA7
Homology/Alignments : Family Browser (UCSC)EPHA7
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerEPHA7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPHA7
dbVarEPHA7
ClinVarEPHA7
1000_GenomesEPHA7 
Exome Variant ServerEPHA7
ExAC (Exome Aggregation Consortium)EPHA7 (select the gene name)
Genetic variants : HAPMAP2045
Genomic Variants (DGV)EPHA7 [DGVbeta]
Mutations
ICGC Data PortalEPHA7 
TCGA Data PortalEPHA7 
Broad Tumor PortalEPHA7
OASIS PortalEPHA7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPHA7 
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 EPHA7
DgiDB (Drug Gene Interaction Database)EPHA7
DoCM (Curated mutations)EPHA7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPHA7 (select a term)
intoGenEPHA7
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:93949740-94129300  ENSG00000135333
CONAN: Copy Number AnalysisEPHA7 
Mutations and Diseases : HGMDEPHA7
OMIM602190   
MedgenEPHA7
Genetic Testing Registry EPHA7
NextProtQ15375 [Medical]
TSGene2045
GENETestsEPHA7
Huge Navigator EPHA7 [HugePedia]
snp3D : Map Gene to Disease2045
BioCentury BCIQEPHA7
ClinGenEPHA7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2045
Chemical/Pharm GKB GenePA27822
Clinical trialEPHA7
Miscellaneous
canSAR (ICR)EPHA7 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPHA7
EVEXEPHA7
GoPubMedEPHA7
iHOPEPHA7
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:30:55 CEST 2016

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