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EPHA7 (EPH receptor A7)

Identity

Other namesEHK3
HEK11
HGNC (Hugo) EPHA7
LocusID (NCBI) 2045
Location 6q16.1
Location_base_pair Starts at 93949740 and ends at 94129300 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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

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.
  

External links

Nomenclature
HGNC (Hugo)EPHA7   3390
Entrez_Gene (NCBI)EPHA7  2045  EPH receptor A7
Cards
AtlasEPHA7ID40466ch6q16
GeneCards (Weizmann)EPHA7
Ensembl (Hinxton)ENSG00000135333 [Gene_View]  chr6:93949740-94129300 [Contig_View]  EPHA7 [Vega]
AceView (NCBI)EPHA7
Genatlas (Paris)EPHA7
SOURCE (Stanford)NM_004440
Genomic and cartography
GoldenPath (UCSC)EPHA7  -  6q16.1   chr6:93949740-94129300 -  6q16.3   [Description]    (hg19-Feb_2009)
EnsemblEPHA7 - 6q16.3 [CytoView]
Mapping of homologs : NCBIEPHA7 [Mapview]
OMIM602190   
Gene and transcription
Genbank (Entrez)AB209269 AK313529 AL699163 BC027940 BC126125
RefSeq transcript (SRS)NM_004440
RefSeq transcript (Entrez)NM_004440
RefSeq genomic (SRS)AC_000138 NC_000006 NC_018917 NT_007299 NW_001838987 NW_004078027
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NT_007299 NW_001838987 NW_004078027
Consensus coding sequences : CCDS (NCBI)EPHA7
Cluster EST : UnigeneHs.73962 [ SRS ] Hs.73962 [ NCBI ]
CGAP (NCI)Hs.73962
Alternative Splicing : Fast-db (Paris)GSHG0026786
Alternative Splicing GalleryENSG00000135333
Gene ExpressionEPHA7 [ NCBI-GEO ]   EPHA7 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15375 (SRS) Q15375 (Uniprot)
NextProtQ15375
With graphics : InterProQ15375
Splice isoforms : SwissVarQ15375(Swissvar)
Domaine pattern : Prosite (SRS)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)   
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 (SRS)Ephrin_rcpt_lig-bd_dom    Fibronectin_type3    Galactose-bd-like    Growth_fac_rcpt    Ig-like_fold    Kinase-like_dom    Prot_kinase_cat_dom    Protein_kinase_ATP_BS    SAM    SAM/pointed    SAM_2    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   
Domains : Interpro (EBI)Ephrin_rcpt_lig-bd_dom    Fibronectin_type3    Galactose-bd-like    Growth_fac_rcpt    Ig-like_fold    Kinase-like_dom    Prot_kinase_cat_dom    Protein_kinase_ATP_BS    SAM    SAM/pointed    SAM_2    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   
Related proteins : CluSTrQ15375
Domain families : Pfam (SRS)Ephrin_lbd (PF01404)    fn3 (PF00041)    GCC2_GCC3 (PF07699)    Pkinase_Tyr (PF07714)    SAM_2 (PF07647)   
Domain families : Pfam (Sanger)Ephrin_lbd (PF01404)    fn3 (PF00041)    GCC2_GCC3 (PF07699)    Pkinase_Tyr (PF07714)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam01404    pfam00041    pfam07699    pfam07714    pfam07647   
Domain families : Smart (EMBL)EPH_lbd (SM00615)  FN3 (SM00060)  SAM (SM00454)  TyrKc (SM00219)  
DMDM2045
Blocks (Seattle)Q15375
PDB (SRS)2REI    3DKO    3H8M    3NRU   
PDB (PDBSum)2REI    3DKO    3H8M    3NRU   
PDB (IMB)2REI    3DKO    3H8M    3NRU   
PDB (RSDB)2REI    3DKO    3H8M    3NRU   
Human Protein AtlasENSG00000135333
HPRD03721
IPIIPI00016645   IPI00607655   IPI00607878   
Protein Interaction databases
DIP (DOE-UCLA)Q15375
IntAct (EBI)Q15375
FunCoupENSG00000135333
REACTOMEEPHA7
Protein Interaction Database2045
BioGRIDEPHA7
InParanoidQ15375
Interologous Interaction database Q15375
IntegromeDBEPHA7
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EPHA7
SNP (GeneSNP Utah)EPHA7
SNP : HGBaseEPHA7
Genetic variants : HAPMAPEPHA7
Somatic Mutations in Cancer : COSMICEPHA7 
CONAN: Copy Number AnalysisEPHA7 
Mutations and Diseases : HGMDEPHA7
OMIM602190   
GENETests602190   
Disease Genetic AssociationEPHA7
Huge Navigator EPHA7 [HugePedia]  EPHA7 [HugeCancerGEM]
Genomic VariantsEPHA7  EPHA7 [DGVbeta]
snp3D : Map Gene to Disease2045
General knowledge
Homologs : HomoloGeneEPHA7
Homology/Alignments : Family Browser (UCSC)EPHA7
Phylogenetic Trees/Animal Genes : TreeFamEPHA7
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.1 [ Enzyme-SRS ]   2.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   
Chemical/Protein Interactions : CTD2045
Chemical/Pharm GKB GenePA27822
Clinical trialEPHA7
Cancer Resource (Charite)ENSG00000135333
Ontology : AmiGOprotein tyrosine kinase activity  GPI-linked ephrin receptor activity  protein binding  ATP binding  integral to plasma membrane  brain development  axon guidance receptor activity  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  branching morphogenesis of a nerve  regulation of peptidyl-tyrosine phosphorylation  negative chemotaxis  regulation of ERK1 and ERK2 cascade  
Ontology : EGO-EBIprotein tyrosine kinase activity  GPI-linked ephrin receptor activity  protein binding  ATP binding  integral to plasma membrane  brain development  axon guidance receptor activity  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  branching morphogenesis of a nerve  regulation of peptidyl-tyrosine phosphorylation  negative chemotaxis  regulation of ERK1 and ERK2 cascade  
Pathways : KEGGAxon guidance
Other databases
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
PubGeneEPHA7
iHOPEPHA7

Bibliography

Regulation of repulsion versus adhesion by different splice forms of an Eph receptor.
Holmberg J, Clarke DL, Frisˆ©n J
Nature. 2000 ; 408 (6809) : 203-206.
PMID 11089974
 
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
 
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
 
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
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written02-2007Haruhiko Sugimura, Hiroki Mori, Tomoyasu Bunai, Masaya Suzuki

Citation

This paper should be referenced as such :
Sugimura H, Mori H, Bunai T, Suzuki M . EPHA7 (EPH receptor A7). Atlas Genet Cytogenet Oncol Haematol. February 2007 .
URL : http://AtlasGeneticsOncology.org/Genes/EPHA7ID40466ch6q16.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/38435/1/02-2007-EPHA7ID40466ch6q16.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 13:04:50 CEST 2013

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