• Gene id: 1943

Gene Summary

• Gene Symbol: EFNA2   Gene   UCSC   Ensembl
• Aliases: ELF-1, EPLG6, HEK7-L, LERK-6, LERK6
• Gene name: ephrin A2
• Alternate names: ephrin-A2, HEK7 ligand, eph-related receptor tyrosine kinase ligand 6,
• Gene location: 19p13.3 (1282816: 1301430)     Exons: 6     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyros
• OMIM: 602756

Protein Summary

• Protein general information: O43921  
  • Name: Ephrin A2 (EPH related receptor tyrosine kinase ligand 6) (LERK 6) (HEK7 ligand) (HEK7 L)
  • Length: 213  
  • Mass: 23878
• Sequence:

  MAPAQRPLLPLLLLLLPLPPPPFARAEDAARANSDRYAVYWNRSNPRFHAGAGDDGGGYTVEVSINDYLDIYCPH
  YGAPLPPAERMEHYVLYMVNGEGHASCDHRQRGFKRWECNRPAAPGGPLKFSEKFQLFTPFSLGFEFRPGHEYYY
  ISATPPNAVDRPCLRLKVYVRPTNETLYEAPEPIFTSNNSCSSPGGCRLFLSTIPVLWTLLGS

• Structural information:
  • Protein Domains: (34..17-)
    (/note="Ephrin-RBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00884"-)
  • Interpro: IPR008972  IPR031328  IPR034252  IPR019765  IPR001799  
  • Prosite: PS01299 PS51551
  • CDD: cd10425
  • PDB: 2WO3
  • PDBsum: 2WO3
  • DIP: 48293
  • STRING: ENSP00000215368
• Other Databases: GeneCards:  EFNA2  Malacards:  EFNA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048013	ephrin receptor signaling pathway	IBA	biological process
GO:0046875	ephrin receptor binding	IBA	molecular function
GO:0046849	bone remodeling	IBA	biological process
GO:0030316	osteoclast differentiation	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0048013	ephrin receptor signaling pathway	ISS	biological process
GO:0046849	bone remodeling	ISS	biological process
GO:0030316	osteoclast differentiation	ISS	biological process
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:0048013	ephrin receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0046875	ephrin receptor binding	TAS	molecular function
GO:0007267	cell-cell signaling	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:0048013	ephrin receptor signaling pathway	IEA	biological process
GO:0021772	olfactory bulb development	IEA	biological process
GO:0030316	osteoclast differentiation	IEA	biological process
GO:0046849	bone remodeling	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04010	MAPK signaling pathway
hsa05206	MicroRNAs in cancer
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa04360	Axon guidance

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray