EPHA7 (EPH receptor A7)

2007-02-01   Haruhiko 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

Identity

HGNC
LOCATION
6q16.1
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
EHK-3,EHK3,EK11,HEK11
FUSION GENES

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.

Proteins

Atlas Image

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 name
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 5CpG 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 5CpG island methylation. It provides the evidence that EphA7 gene is involved in human colorectal carcinogenesis.

Bibliography

Pubmed IDLast YearTitleAuthors
169836672006Inhibition of EphA7 up-regulation after spinal cord injury reduces apoptosis and promotes locomotor recovery.Figueroa JD et al
168620742006Expression profile of Eph receptors and ephrin ligands in human skin and downregulation of EphA1 in nonmelanoma skin cancer.Hafner C et al
147264702004Differential gene expression of Eph receptors and ephrins in benign human tissues and cancers.Hafner C et al
110899742000Regulation of repulsion versus adhesion by different splice forms of an Eph receptor.Holmberg J et al
170164442007Absence of tyrosine kinase mutations in Japanese colorectal cancer patients.Shao RX et al
160072132005Downregulation of EphA7 by hypermethylation in colorectal cancer.Wang J et al
172361412007Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.Zhao X et al

Other Information

Locus ID:

NCBI: 2045
MIM: 602190
HGNC: 3390
Ensembl: ENSG00000135333

Variants:

dbSNP: 2045
ClinVar: 2045
TCGA: ENSG00000135333
COSMIC: EPHA7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135333ENST00000369297Q15375
ENSG00000135333ENST00000369303Q15375

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Axon guidanceKEGGko04360
Axon guidanceKEGGhsa04360
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPHA-mediated growth cone collapseREACTOMER-HSA-3928663
EPH-ephrin mediated repulsion of cellsREACTOMER-HSA-3928665

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
220365642011The Eph-receptor A7 is a soluble tumor suppressor for follicular lymphoma.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
219354092011Eph/ephrin profiling in human breast cancer reveals significant associations between expression level and clinical outcome.49
160072132005Downregulation of EphA7 by hypermethylation in colorectal cancer.37
188215812009Aberrant methylation of EphA7 in human prostate cancer and its relation to clinicopathologic features.30
183667282008Increased expression of EphA7 correlates with adverse outcome in primary and recurrent glioblastoma multiforme patients.22
177261052007ALL1 fusion proteins induce deregulation of EphA7 and ERK phosphorylation in human acute leukemias.21
199499122010Clinical significance of ephrin (eph)-A1, -A2, -a4, -a5 and -a7 receptors in pancreatic ductal adenocarcinoma.17
211249322010Exploring the link between germline and somatic genetic alterations in breast carcinogenesis.15
219649812013MTDH and EphA7 are markers for metastasis and poor prognosis of gallbladder adenocarcinoma.15

Citation

Haruhiko Sugimura ; Hiroki Mori ; Tomoyasu Bunai ; Masaya Suzuki

EPHA7 (EPH receptor A7)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/40466/epha7-(eph-receptor-a7)