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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 nameGene Name - the full gene name approved by the HGNC.
EPH receptor A2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EPHA2
SynonymsGene synonyms aliases
ARCC2, CTPA, CTPP1, CTRCT6, ECK
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
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 IDsOther 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
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
Sequence 
MELQAARACFALLWGCALAAAAAAQGKEVVLLDFAAAGGELGWLTHPYGKGWDLMQNIMN
DMPIYMYSVCNVMSGDQDNWLRTNWVYRGEAERIFIELKFTVRDCNSFPGGASSCKETFN
LYYAESDLDYGTNFQKRLFTKIDTIAPDEITVSSDFEARHVKLNVEERSVGPLTRKGFYL
AFQDIGACVALLSVRVYYKKCPELLQGLAHFPETIAGSDAPSLATVAGTCVDHAVVPPGG
EEPRMHCAVDGEWLVPIGQCLCQAGYEKVEDACQACSPGFFKFEASESPCLECPEHTLPS
PEGATSCECEEGFFRAPQDPASMPCTRPPSAPHYLTAVGMGAKVELRWTPPQDSGGREDI
VYSVTCEQCWPESGECGPCEASVRYSEPPHGLTRTSVTVSDLEPHMNYTFTVEARNGVSG
LVTSRSFRTASVSINQTEPPKVRLEGRSTTSLSVSWSIPPPQQSRVWKYEVTYRKKGDSN
SYNVRRTEGFSVTLDDLAPDTTYLVQVQALTQEGQGAGSKVHEFQTLSPEGSGNLAVIGG
VAVGVVLLLVLAGVGFFIHRRRKNQRARQSPEDVYFSKSEQLKPLKTYVDPHTYEDPNQA
VLKFTTEIHPSCVTRQKVIGAGEFGEVYKGMLKTSSGKKEVPVAIKTLKAGYTEKQRVDF
LGEAGIMGQFSHHNIIRLEGVISKYKPMMIITEYMENGALDKFLREKDGEFSVLQLVGML
RGIAAGMKYLANMNYVHRDLAARNILVNSNLVCKVSDFGLSRVLEDDPEATYTTSGGKIP
IRWTAPEAISYRKFTSASDVWSFGIVMWEVMTYGERPYWELSNHEVMKAINDGFRLPTPM
DCPSAIYQLMMQCWQQERARRPKFADIVSILDKLIRAPDSLKTLADFDPRVSIRLPSTSG
SEGVPFRTVSEWLESIKMQQYTEHFMAAGYTAIEKVVQMTNDDIKRIGVRLPGHQKRIAY
SLLGLKDQVNTVGIPI
Sequence length 976
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term 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, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692 24014202, 19306328, 22570727, 19005574, 19649315, 24014202
Choroideremia Choroideremia rs132630263, rs132630264, rs132630265, rs587776746, rs132630267, rs132630266, rs397514603, rs386833676, rs281865373, rs527236048, rs786204761, rs886041179, rs886041177, rs776256380, rs1057516265, rs1555955061, rs1555958073, rs1556307713, rs1556277815, rs1556207100, rs1603264410, rs1603288832, rs1603236385, rs1603262410, rs1603288815, rs1603244690, rs1603264449, rs1603263147, rs1926202120, rs1930428430, rs1930431885, rs1930438584, rs1930439753, rs1244003380, rs1924193863
Gastric cancer Gastric Adenocarcinoma rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Leopard syndrome LEOPARD Syndrome, Leopard Syndrome 1 rs28933386, rs121918455, rs121918456, rs121918461, rs121918457, rs121918462, rs121918463, rs121918468, rs121918469, rs121918470, rs267606990, rs80338796, rs80338797, rs180177035, rs387906661, rs397507466, rs397507505, rs397507510, rs397507519, rs376607329, rs397507527, rs397507531, rs397507540, rs397507541, rs397507542, rs397507546, rs397507548, rs397507549, rs397507550, rs397516813, rs397516801, rs397516827, rs727503380, rs1575573330 22845314
Unknown
Disease name Disease term dbSNP ID References
Benign neoplasm Benign Neoplasm 21479221
Capsular cataract Posterior subcapsular cataract 19306328, 23447127
Congenital cataract Congenital total cataract 19306328
Cortical cataract Age-related cortical cataract rs757859957, rs748560372, rs886045505, rs886045507, rs2547319

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