EPHA2 (EPH receptor A2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1969
Gene name EPH receptor A2
Gene symbol EPHA2
Synonyms (NCBI Gene)
ARCC2CTPACTPP1CTRCT6ECK
Chromosome 1
Chromosome location 1p36.13
Summary 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.
9
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.
670
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 assayqRT-PCRWestern 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 Transcription factors information provided by TRRUST V2 database.
3
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
100
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (100)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001501 Process Skeletal system development IEA
GO:0001525 Process Angiogenesis IBA
GO:0001525 Process Angiogenesis IEA
GO:0001568 Process Blood vessel development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
176946 3386 ENSG00000142627
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bilateral microphthalmos Pathogenic rs2124283411 RCV002275250
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract Pathogenic rs2124283411 RCV002275250
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 6 multiple types Pathogenic; Likely pathogenic rs2124192639, rs766078852, rs2524538503, rs2524547709, rs757313469, rs886041412, rs137853199, rs137853200, rs1569602837, rs1570403798, rs2024441691 RCV001591931
RCV002250911
RCV002281543
RCV003081426
RCV002948856
View all (6 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital aniridia Pathogenic rs2124283411 RCV002275250
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (32)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Age-related cortical cataract Uncertain significance; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANIRIDIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT 6 MULTIPLE TYPE S — ClinVar, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (191)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 19934338
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19934338
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 23298804
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 29970559
★★★★★
★☆☆☆☆
Found in Text Mining only
Age-related cortical cataract Cortical cataract BEFREE 19649315, 21686326
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Age-related cortical cataract Cortical cataract GENOMICS_ENGLAND_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 22925330
★★★★★
★☆☆☆☆
Found in Text Mining only
Anterior segment mesenchymal dysgenesis Anterior segment mesenchymal dysgenesis Pubtator 39870121 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 22247258, 25613580, 28487392
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 17519535 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only