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EPHA7 (EPH receptor A7)

Identity

Other namesEHK3
HEK11
HGNC (Hugo) EPHA7
Location 6q16.1
Location_base_pair Starts at 94006459 and ends at 94186021 bp from pter ( according to hg18-Mar_2006)  [Mapping]

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]  EPHA7 [Vega]
AceView (NCBI)EPHA7
Genatlas (Paris)EPHA7
euGene (Indiana)2045
SOURCE (Stanford)NM_004440
Gene Expression (Array Express) ENSG00000135333
Genomic and cartography
GoldenPath (UCSC)EPHA7  -  6q16.1   chr6:94006459-94186021 -  6q16.1   [Description]    (hg18-Mar_2006)
EnsemblEPHA7 - 6q16.1 [CytoView]
Mapping of homologs : NCBIEPHA7 [Mapview]
OMIM602190   
Gene and transcription
Gene : Genbank (Entrez)AB209269 AK313529 AL699163 BC027940 BC126125
Reference sequence (RefSeq transcript) :SRSNM_004440
Reference transcript : EntrezNM_004440
RefSeq genomic : SRSAC_000049 AC_000138 NC_000006 NT_007299 NW_001838987 NW_923184
RefSeq genomic : EntrezAC_000049 AC_000138 NC_000006 NT_007299 NW_001838987 NW_923184
Consensus coding sequences : CCDS NCBIEPHA7
Cluster EST : UnigeneHs.73962 [ SRS ] Hs.73962 [ NCBI ]
Alternative Splicing : Fast-db (Paris)15625
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ15375 (SRS) Q15375 (Expasy) Q15375 (Uniprot)
With graphics : InterProQ15375
Splice isoforms : VarSplice FASTAQ15375(VarSplice FASTA)
Domaine pattern : Prosite (SRS)EGF_2 (PS01186)    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)   
Domain pattern : Prosite (Expaxy)EGF_2 (PS01186)    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    Fibronectin_typ-III-like_fold    FN_III    FnIII_subd    Galactose-bd-like    GCC2_GCC3    Growth_fac_rcpt    Kinase-like_dom    Prot_kinase_cat_dom    Protein_kinase_ATP_BS    SAM    SAM_2    SAM_homology    SAM_type    Tyr_prot_kinase    Tyr_prot_kinase_AS    Tyr_prot_kinase_cat_dom    Tyr_prot_kinase_ephrin_rcpt    Tyr_prot_kinase_rcpt_V_CS    Tyr_prot_kinase_subgr_cat_dom   
Domains : Interpro (EBI)Ephrin_rcpt_lig-bd    Fibronectin_typ-III-like_fold    FN_III    FnIII_subd    Galactose-bd-like    GCC2_GCC3    Growth_fac_rcpt    Kinase-like_dom    Prot_kinase_cat_dom    Protein_kinase_ATP_BS    SAM    SAM_2    SAM_homology    SAM_type    Tyr_prot_kinase    Tyr_prot_kinase_AS    Tyr_prot_kinase_cat_dom    Tyr_prot_kinase_ephrin_rcpt    Tyr_prot_kinase_rcpt_V_CS    Tyr_prot_kinase_subgr_cat_dom   
Related proteins : CluSTrQ15375
Domain families : Pfam SRSEphrin_lbd (PF01404)    fn3 (PF00041)    GCC2_GCC3 (PF07699)    Pkinase_Tyr (PF07714)    SAM_2 (PF07647)   
Domain families : Pfam SangerEphrin_lbd (PF01404)    fn3 (PF00041)    GCC2_GCC3 (PF07699)    Pkinase_Tyr (PF07714)    SAM_2 (PF07647)   
Domain families : Pfam NCBIpfam01404    pfam00041    pfam07699    pfam07714    pfam07647   
Domain families : Smart EMBLEPH_lbd (SM00615)  FN3 (SM00060)  SAM (SM00454)  TyrKc (SM00219)  
Blocks (Seattle)Q15375
Crystal structure of protein : PDB SRS2REI    3DKO    3H8M   
Crystal structure of protein : PDBSum2REI    3DKO    3H8M   
Crystal structure of protein : IMB2REI    3DKO    3H8M   
Crystal structure of protein : PDB RSDB2REI    3DKO    3H8M   
HPRD03721
Protein Interaction databases
DIP (DOE-UCLA)Q15375
IntAct (EBI)Q15375
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIEPHA7
SNP : GeneSNP UtahEPHA7
SNP : HGBaseEPHA7
Genetic variants : HAPMAPEPHA7
Somatic Mutations in Cancer : COSMICEPHA7 
Mutations and Diseases : HGMDEPHA7
Hereditary diseases : OMIM602190   
Hereditary diseases : GENETests602190   
Diseases : Genetic AssociationEPHA7
General knowledge
Homologs : HomoloGeneEPHA7
Homology/Alignments : Family Browser UCSCEPHA7
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
Keywords Ontology : AmiGOnucleotide binding  receptor activity  ephrin receptor activity  protein binding  ATP binding  integral to plasma membrane  protein amino acid phosphorylation  transmembrane receptor protein tyrosine kinase signaling pathway  transferase activity  dendrite  retinal ganglion cell axon guidance  neuromuscular junction  cell soma  positive regulation of neuron apoptosis  postsynaptic membrane  chemorepellent activity  ephrin receptor binding  branching morphogenesis of a nerve  
Keywords Ontology : EGO-EBInucleotide binding  receptor activity  ephrin receptor activity  protein binding  ATP binding  integral to plasma membrane  protein amino acid phosphorylation  transmembrane receptor protein tyrosine kinase signaling pathway  transferase activity  dendrite  retinal ganglion cell axon guidance  neuromuscular junction  cell soma  positive regulation of neuron apoptosis  postsynaptic membrane  chemorepellent activity  ephrin receptor binding  branching morphogenesis of a nerve  
Pathways : BIOCARTA
Pathways : KEGGAxon guidance
Other databases
Probes
Probes : ImagenesEPHA7 Related clones (RZPD - Berlin)
Literature
PubMed27 Pubmed reference(s) in Entrez
PubGeneEPHA7

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
 
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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

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indexed on : Sat Feb 27 10:52:09 CET 2010

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