• Gene id: 2046

Gene Summary

• Gene Symbol: EPHA8   Gene   UCSC   Ensembl
• Aliases: EEK, EK3, HEK3
• Gene name: EPH receptor A8
• Alternate names: ephrin type-A receptor 8, EPH- and ELK-related kinase, EPH- and ELK-related tyrosine kinase, EPH-like kinase 3, hydroxyaryl-protein kinase, protein-tyrosine kinase, tyrosine-protein kinase receptor EEK, tyrosylprotein kinase,
• Gene location: 1p36.12 (22563488: 22603594)     Exons: 24     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of 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 typ
• OMIM: 601233

Protein Summary

• Protein general information: P29322  
  • Name: Ephrin type A receptor 8 (EC 2.7.10.1) (EPH and ELK related kinase) (EPH like kinase 3) (EK3) (hEK3) (Tyrosine protein kinase receptor EEK)
  • Length: 1005  
  • Mass: 111003
• Sequence:

  MAPARGRLPPALWVVTAAAAAATCVSAARGEVNLLDTSTIHGDWGWLTYPAHGWDSINEVDESFQPIHTYQVCNV
  MSPNQNNWLRTSWVPRDGARRVYAEIKFTLRDCNSMPGVLGTCKETFNLYYLESDRDLGASTQESQFLKIDTIAA
  DESFTGADLGVRRLKLNTEVRSVGPLSKRGFYLAFQDIGACLAILSLRIYYKKCPAMVRNLAAFSEAVTGADSSS
  LVEVRGQCVRHSEERDTPKMYCSAEGEWLVPIGKCVCSAGYEERRDACVACELGFYKSAPGDQLCARCPPHSHSA
  APAAQACHCDLSYYRAALDPPSSACTRPPSAPVNLISSVNGTSVTLEWAPPLDPGGRSDITYNAVCRRCPWALSR
  CEACGSGTRFVPQQTSLVQASLLVANLLAHMNYSFWIEAVNGVSDLSPEPRRAAVVNITTNQAAPSQVVVIRQER
  AGQTSVSLLWQEPEQPNGIILEYEIKYYEKDKEMQSYSTLKAVTTRATVSGLKPGTRYVFQVRARTSAGCGRFSQ
  AMEVETGKPRPRYDTRTIVWICLTLITGLVVLLLLLICKKRHCGYSKAFQDSDEEKMHYQNGQAPPPVFLPLHHP
  PGKLPEPQFYAEPHTYEEPGRAGRSFTREIEASRIHIEKIIGSGDSGEVCYGRLRVPGQRDVPVAIKALKAGYTE
  RQRRDFLSEASIMGQFDHPNIIRLEGVVTRGRLAMIVTEYMENGSLDTFLRTHDGQFTIMQLVGMLRGVGAGMRY
  LSDLGYVHRDLAARNVLVDSNLVCKVSDFGLSRVLEDDPDAAYTTTGGKIPIRWTAPEAIAFRTFSSASDVWSFG
  VVMWEVLAYGERPYWNMTNRDVISSVEEGYRLPAPMGCPHALHQLMLDCWHKDRAQRPRFSQIVSVLDALIRSPE
  SLRATATVSRCPPPAFVRSCFDLRGGSGGGGGLTVGDWLDSIRMGRYRDHFAAGGYSSLGMVLRMNAQDVRALGI
  TLMGHQKKILGSIQTMRAQLTSTQGPRRHL

• Structural information:
  • Protein Domains: (31..20-)
    (/note="Eph-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00883-)
    (328..43-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (439..53-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:000-)
  • Interpro: IPR027936  IPR001090  IPR003961  IPR036116  IPR008979   IPR013783  IPR011009  IPR000719  IPR017441  IPR001660  IPR013761  IPR001245  IPR011641  IPR008266  IPR020635  IPR016257  IPR001426  
  • Prosite: PS01186 PS51550 PS50853 PS00107 PS50011 PS00109 PS00790 PS00791 PS50105
  • CDD: cd00063
  • PDB: 1UCV 1X5L 3KUL
  • PDBsum: 1UCV 1X5L 3KUL
  • STRING: ENSP00000166244
• Other Databases: GeneCards:  EPHA8  Malacards:  EPHA8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005005	transmembrane-ephrin receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	biological process
GO:0007275	multicellular organism development	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA	molecular function
GO:0033674	positive regulation of kinase activity	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0043235	receptor complex	IBA	cellular component
GO:0048013	ephrin receptor signaling pathway	ISS	biological process
GO:0046777	protein autophosphorylation	ISS	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	ISS	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0031175	neuron projection development	ISS	biological process
GO:0030155	regulation of cell adhesion	ISS	biological process
GO:0016322	neuron remodeling	ISS	biological process
GO:0005004	GPI-linked ephrin receptor activity	ISS	molecular function
GO:0043410	positive regulation of MAPK cascade	ISS	biological process
GO:0033628	regulation of cell adhesion mediated by integrin	ISS	biological process
GO:0007411	axon guidance	ISS	biological process
GO:0006929	substrate-dependent cell migration	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0005003	ephrin receptor activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0071372	cellular response to follicle-stimulating hormone stimulus	IEA	biological process
GO:0048013	ephrin receptor signaling pathway	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0030155	regulation of cell adhesion	IEA	biological process
GO:0016322	neuron remodeling	IEA	biological process
GO:0005004	GPI-linked ephrin receptor activity	IEA	molecular function
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0033628	regulation of cell adhesion mediated by integrin	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0006929	substrate-dependent cell migration	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq