EPHA2 (EPH receptor A2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1969
Gene name Gene Name - the full gene name approved by the HGNC.
EPH receptor A2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPHA2
Synonyms (NCBI Gene) Gene synonyms aliases
ARCC2, CTPA, CTPP1, CTRCT6, ECK
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CTRCT6
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically ha
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs34192549 C>G,T Likely-pathogenic, benign Coding sequence variant, missense variant
rs116506614 C>T Likely-pathogenic, pathogenic, likely-benign Genic downstream transcript variant, missense variant, coding sequence variant
rs137853199 C>A Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs137853200 G>A Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs145592908 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(670)
miRTarBase ID miRNA Experiments Reference
MIRT005508 hsa-miR-26b-5p Luciferase reporter assay, qRT-PCR, Western blot 21264258
MIRT016375 hsa-miR-193b-3p Microarray 20304954
MIRT025420 hsa-miR-34a-5p Proteomics 21566225
MIRT025420 hsa-miR-34a-5p Proteomics 21566225
MIRT031603 hsa-miR-16-5p Proteomics 18668040
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
HIC1 Repression 22184117
MTA1 Repression 22184117
TP53 Activation 11641774
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(69)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001618 Function Virus receptor activity IEA
GO:0001649 Process Osteoblast differentiation ISS
GO:0002043 Process Blood vessel endothelial cell proliferation involved in sprouting angiogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
176946 3386 ENSG00000142627
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P29317
Protein name Ephrin type-A receptor 2 (EC 2.7.10.1) (Epithelial cell kinase) (Tyrosine-protein kinase receptor ECK)
Protein function Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor i
PDB 1MQB , 2E8N , 2K9Y , 2KSO , 2X10 , 2X11 , 3C8X , 3CZU , 3FL7 , 3HEI , 3HPN , 3KKA , 3MBW , 3MX0 , 3SKJ , 4P2K , 4PDO , 4TRL , 5EK7 , 5I9U , 5I9V , 5I9W , 5I9X , 5I9Y , 5I9Z , 5IA0 , 5IA1 , 5IA2 , 5IA3 , 5IA4 , 5IA5 , 5NJZ , 5NK0 , 5NK1 , 5NK2 , 5NK3 , 5NK4 , 5NK5 , 5NK6 , 5NK7 , 5NK8 , 5NK9 , 5NKA , 5NKB , 5NKC , 5NKD , 5NKE , 5NKF , 5NKG , 5NKH , 5NKI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01404 Ephrin_lbd 29 → 201 Ephrin receptor ligand binding domain Domain
PF00041 fn3 330 → 424 Fibronectin type III domain Domain
PF00041 fn3 437 → 519 Fibronectin type III domain Domain
PF14575 EphA2_TM 537 → 610 Ephrin type-A receptor 2 transmembrane domain Domain
PF07714 PK_Tyr_Ser-Thr 613 → 871 Protein tyrosine and serine/threonine kinase Domain
PF00536 SAM_1 902 → 966 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and glioma tissue and glioma cell lines (at protein level). Expressed most highly in tissues that contain a high proportion of epithelial cells, e.g. skin, intestine, lung, and ovary. {ECO:0000269|PubMed:17332925}.
Sequence 
MELQAARACFALLWGCALAAAAAAQGKEVVLLDFAAAGGELGWLTHPYGKGWDLMQNIMN
DMPIYMYSVCNVMSGDQDNWLRTNWVYRGEAERIFIELKFTVRDCNSFPGGASSCKETFN
LYYAESDLDYGTNFQKRLFTKIDTIAPDEITVSSDFEARHVKLNVEERSVGPLTRKGFYL
AFQDIGACVALLSVRVYYKKCPELLQGLAHFPETIAGSDAPSLATVAGTCVDHAVVPPGG
EEPRMHCAVDGEWLVPIGQCLCQAGYEKVEDACQACSPGFFKFEASESPCLECPEHTLPS
PEGATSCECEEGFFRAPQDPASMPCTRPPSAPHYLTAVGMGAKVELRWTPPQDSGGREDI
VYSVTCEQCWPESGECGPCEASVRYSEPPHGLTRTSVTVSDLEPHMNYTFTVEARNGVSG
LVTSRSFRTASVSINQTEPPKVRLEGRSTTSLSVSWSIPPPQQSRVWKYEVTYRKKGDSN
SYNVRRTEGFSVTLDDLAPDTTYLVQVQALTQEGQGAGSKVHEFQTLSPEGSGNLAVIGG
VAVGVVLLLVLAGVGFFIHRRRKNQRARQSPEDVYFSKSEQLKPLKTYVDPHTYEDPNQA
VLKFTTEIHPSCVTRQKVIGAGEFGEVYKGMLKTSSGKKEVPVAIKTLKAGYTEKQRVDF
LGEAGIMGQFSHHNIIRLEGVISKYKPMMIITEYMENGALDKFLREKDGEFSVLQLVGML
RGIAAGMKYLANMNYVHRDLAARNILVNSNLVCKVSDFGLSRVLEDDPEATYTTSGGKIP
IRWTAPEAISYRKFTSASDVWSFGIVMWEVMTYGERPYWELSNHEVMKAINDGFRLPTPM
DCPSAIYQLMMQCWQQERARRPKFADIVSILDKLIRAPDSLKTLADFDPRVSIRLPSTSG
SEGVPFRTVSEWLESIKMQQYTEHFMAAGYTAIEKVVQMTNDDIKRIGVRLPGHQKRIAY
SLLGLKDQVNTVGIPI
Sequence length 976
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
PI3K-Akt signaling pathway
Axon guidance 		  EPH-Ephrin signaling
EPHA-mediated growth cone collapse
EPH-ephrin mediated repulsion of cells
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Cataract Nuclear cataract, Nuclear non-senile cataract, CATARACT, POSTERIOR POLAR, 1, Early-onset posterior subcapsular cataract, Early-onset nuclear cataract, Total early-onset cataract, Early-onset posterior polar cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)		 24014202, 19306328, 22570727, 19005574, 19649315
Choroideremia Choroideremia rs132630263, rs132630264, rs132630265, rs587776746, rs132630267, rs132630266, rs397514603, rs386833676, rs281865373, rs527236048, rs786204761, rs886041179, rs886041177, rs776256380, rs1057516265
View all (20 more)
Gastric cancer Gastric Adenocarcinoma rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
Leopard syndrome LEOPARD Syndrome, Leopard Syndrome 1 rs28933386, rs121918455, rs121918456, rs121918461, rs121918457, rs121918462, rs121918463, rs121918468, rs121918469, rs121918470, rs267606990, rs80338796, rs80338797, rs180177035, rs387906661
View all (19 more)		 22845314
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Cortical cataract Age-related cortical cataract ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Cholelithiasis Cholelithiasis GWAS
Show/Hide Text Mining Associations (84)
Associations from Text Mining
Disease Name Relationship Type References
Allergic Fungal Sinusitis Associate 34975898
Anterior segment mesenchymal dysgenesis Associate 39870121
Ascites Associate 16969087
Astrocytoma Associate 17519535
Brain Neoplasms Associate 19573808
Breast Neoplasms Associate 15649254, 17050670, 21935409, 22184117, 22261062, 24586375, 26861043, 29759486, 33977106, 37063424, 37816703
Calcinosis Cutis Associate 25542447
Cap Myopathy Associate 23037715
Carcinogenesis Associate 14564515, 19396818, 24980480, 26722543, 30833656, 32417448, 35668076, 37816703
Carcinoma Adenoid Cystic Associate 24606764