• Gene id: 1947

Gene Summary

• Gene Symbol: EFNB1   Gene   UCSC   Ensembl
• Aliases: CFND, CFNS, EFB1, EFL3, EPLG2, Elk-L, LERK2
• Gene name: ephrin B1
• Alternate names: ephrin-B1, ELK ligand, eph-related receptor tyrosine kinase ligand 2,
• Gene location: Xq13.1 (68829020: 68842159)     Exons: 5     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]
• OMIM: 600065

Protein Summary

• Protein general information: P98172  
  • Name: Ephrin B1 (EFL 3) (ELK ligand) (ELK L) (EPH related receptor tyrosine kinase ligand 2) (LERK 2) [Cleaved into: Ephrin B1 C terminal fragment (Ephrin B1 CTF); Ephrin B1 intracellular domain (Ephrin B1 ICD)]
  • Length: 346  
  • Mass: 38007
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MARPGQRWLGKWLVAMVVWALCRLATPLAKNLEPVSWSSLNPKFLSGKGLVIYPKIGDKLDIICPRAEAGRPYEY
  YKLYLVRPEQAAACSTVLDPNVLVTCNRPEQEIRFTIKFQEFSPNYMGLEFKKHHDYYITSTSNGSLEGLENREG
  GVCRTRTMKIIMKVGQDPNAVTPEQLTTSRPSKEADNTVKMATQAPGSRGSLGDSDGKHETVNQEEKSGPGASGG
  SSGDPDGFFNSKVALFAAVGAGCVIFLLIIIFLTVLLLKLRKRHRKHTQQRAAALSLSTLASPKGGSGTAGTEPS
  DIIIPLRTTENNYCPHYEKVSGDYGHPVYIVQEMPPQSPANIYYKV

• Structural information:
  • Protein Domains: (30..16-)
    (/note="Ephrin-RBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00884"-)
  • Interpro: IPR008972  IPR031328  IPR034255  IPR019765  IPR001799  
  • Prosite: PS01299 PS51551
  • CDD: cd10426
  • PDB: 6THG
  • PDBsum: 6THG
  • STRING: ENSP00000204961
• Other Databases: GeneCards:  EFNB1  Malacards:  EFNB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0007411	axon guidance	IBA	biological process
GO:0099056	integral component of presynaptic membrane	IBA	cellular component
GO:0046875	ephrin receptor binding	IBA	molecular function
GO:0048013	ephrin receptor signaling pathway	IBA	biological process
GO:0098978	glutamatergic synapse	IBA	cellular component
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:0048013	ephrin receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0046875	ephrin receptor binding	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
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: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: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:0005515	protein binding	IPI	molecular function
GO:0001755	neural crest cell migration	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007411	axon guidance	IEA	biological process
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0042102	positive regulation of T cell proliferation	IEA	biological process
GO:0031295	T cell costimulation	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Syndromic craniosynostoses	KEGG:H00458
Craniofrontonasal syndrome	KEGG:H01992
Syndromic craniosynostoses	KEGG:H00458
Craniofrontonasal syndrome	KEGG:H01992
Dysostosis	PMID:15124102
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