• Gene id: 2042

Gene Summary

• Gene Symbol: EPHA3   Gene   UCSC   Ensembl
• Aliases: EK4, ETK, ETK1, HEK, HEK4, TYRO4
• Gene name: EPH receptor A3
• Alternate names: ephrin type-A receptor 3, EPH-like kinase 4, TYRO4 protein tyrosine kinase, eph-like tyrosine kinase 1, human embryo kinase 1, testicular tissue protein Li 64, tyrosine-protein kinase receptor ETK1,
• Gene location: 3p11.1 (89107620: 89482133)     Exons: 17     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 614459

SNPs

rs1555633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31781295T>A
NC_000013.11   g.31781295T>G
NC_000013.10   g.32355432T>A
NC_000013.10   g.32355432T>G
NG_015819.1   g.46754T>A
NG_015819.1   g.46754T>G|SEQ=[T/A/G]|GENE=RXFP2

rs7325513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31786410A>C
NC_000013.11   g.31786410A>G
NC_000013.11   g.31786410A>T
NC_000013.10   g.32360547A>C
NC_000013.10   g.32360547A>G
NC_000013.10   g.32360547A>T
NG_015819.1   g.51869A>C
NG_015819.1   g.51869A>G
NG_015819.1   g.51869A>T
NM_130806.5   c.957A>

Protein Summary

• Protein general information: P29320  
  • Name: Ephrin type A receptor 3 (EC 2.7.10.1) (EPH like kinase 4) (EK4) (hEK4) (HEK) (Human embryo kinase) (Tyrosine protein kinase TYRO4) (Tyrosine protein kinase receptor ETK1) (Eph like tyrosine kinase 1)
  • Length: 983  
  • Mass: 110131
  • Tissue specificity: Widely expressed. Highest level in placenta.
• Sequence:

  MDCQLSILLLLSCSVLDSFGELIPQPSNEVNLLDSKTIQGELGWISYPSHGWEEISGVDEHYTPIRTYQVCNVMD
  HSQNNWLRTNWVPRNSAQKIYVELKFTLRDCNSIPLVLGTCKETFNLYYMESDDDHGVKFREHQFTKIDTIAADE
  SFTQMDLGDRILKLNTEIREVGPVNKKGFYLAFQDVGACVALVSVRVYFKKCPFTVKNLAMFPDTVPMDSQSLVE
  VRGSCVNNSKEEDPPRMYCSTEGEWLVPIGKCSCNAGYEERGFMCQACRPGFYKALDGNMKCAKCPPHSSTQEDG
  SMNCRCENNYFRADKDPPSMACTRPPSSPRNVISNINETSVILDWSWPLDTGGRKDVTFNIICKKCGWNIKQCEP
  CSPNVRFLPRQFGLTNTTVTVTDLLAHTNYTFEIDAVNGVSELSSPPRQFAAVSITTNQAAPSPVLTIKKDRTSR
  NSISLSWQEPEHPNGIILDYEVKYYEKQEQETSYTILRARGTNVTISSLKPDTIYVFQIRARTAAGYGTNSRKFE
  FETSPDSFSISGESSQVVMIAISAAVAIILLTVVIYVLIGRFCGYKSKHGADEKRLHFGNGHLKLPGLRTYVDPH
  TYEDPTQAVHEFAKELDATNISIDKVVGAGEFGEVCSGRLKLPSKKEISVAIKTLKVGYTEKQRRDFLGEASIMG
  QFDHPNIIRLEGVVTKSKPVMIVTEYMENGSLDSFLRKHDAQFTVIQLVGMLRGIASGMKYLSDMGYVHRDLAAR
  NILINSNLVCKVSDFGLSRVLEDDPEAAYTTRGGKIPIRWTSPEAIAYRKFTSASDVWSYGIVLWEVMSYGERPY
  WEMSNQDVIKAVDEGYRLPPPMDCPAALYQLMLDCWQKDRNNRPKFEQIVSILDKLIRNPGSLKIITSAAARPSN
  LLLDQSNVDITTFRTTGDWLNGVWTAHCKEIFTGVEYSSCDTIAKISTDDMKKVGVTVVGPQKKIISSIKALETQ
  SKNGPVPV

• Structural information:
  • Protein Domains: (29..20-)
    (/note="Eph-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00883-)
    (325..43-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (436..53-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:000-)
  • Interpro: IPR027936  IPR034266  IPR001090  IPR003961  IPR036116   IPR008979  IPR009030  IPR013783  IPR011009  IPR000719  IPR017441  IPR001660  IPR013761  IPR001245  IPR011641  IPR008266  IPR020635  IPR016257  IPR001426  
  • Prosite: PS01186 PS51550 PS50853 PS00107 PS50011 PS00109 PS00790 PS00791 PS50105
  • CDD: cd10481 cd00063
  • PDB: 2GSF 2QO2 2QO7 2QO9 2QOB 2QOC 2QOD 2QOF 2QOI 2QOK 2QOL 2QON 2QOO 2QOQ 3DZQ 3FXX 3FY2 4G2F 4GK2 4GK3 4GK4 4L0P 4P4C 4P5Q 4P5Z 4TWN 4TWO 6IN0
  • PDBsum: 2GSF 2QO2 2QO7 2QO9 2QOB 2QOC 2QOD 2QOF 2QOI 2QOK 2QOL 2QON 2QOO 2QOQ 3DZQ 3FXX 3FY2 4G2F 4GK2 4GK3 4GK4 4L0P 4P4C 4P5Q 4P5Z 4TWN 4TWO 6IN0
  • DIP: 40307
  • STRING: ENSP00000337451
• Other Databases: GeneCards:  EPHA3  Malacards:  EPHA3

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	IDA	biological process
GO:0005004	GPI-linked ephrin receptor activity	IDA	molecular function
GO:0070507	regulation of microtubule cytoskeleton organization	IDA	biological process
GO:0051893	regulation of focal adhesion assembly	IDA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IDA	biological process
GO:0043087	regulation of GTPase activity	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0097156	fasciculation of motor neuron axon	ISS	biological process
GO:0097155	fasciculation of sensory neuron axon	ISS	biological process
GO:0016477	cell migration	ISS	biological process
GO:0010717	regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
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:0010976	positive regulation of neuron projection development	IMP	biological process
GO:0071300	cellular response to retinoic acid	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0045806	negative regulation of endocytosis	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
pancreatic cancer	PMID:14670182
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881