• Gene id: 2047

Gene Summary

• Gene Symbol: EPHB1   Gene   UCSC   Ensembl
• Aliases: ELK, EPHT2, Hek6, NET
• Gene name: EPH receptor B1
• Alternate names: ephrin type-B receptor 1, EK6, EPH-like kinase 6, eph tyrosine kinase 2, neuronally-expressed EPH-related tyrosine kinase, soluble EPHB1 variant 1, tyrosine-protein kinase receptor EPH-2,
• Gene location: 3q22.2 (134595263: 135260466)     Exons: 23     NC_000003.12
• Gene summary(Entrez): Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to
• OMIM: 600600

Protein Summary

• Protein general information: P54762  
  • Name: Ephrin type B receptor 1 (EC 2.7.10.1) (ELK) (EPH tyrosine kinase 2) (EPH like kinase 6) (EK6) (hEK6) (Neuronally expressed EPH related tyrosine kinase) (NET) (Tyrosine protein kinase receptor EPH 2)
  • Length: 984  
  • Mass: 109885
  • Tissue specificity: Preferentially expressed in brain.
• Sequence:

  MALDYLLLLLLASAVAAMEETLMDTRTATAELGWTANPASGWEEVSGYDENLNTIRTYQVCNVFEPNQNNWLLTT
  FINRRGAHRIYTEMRFTVRDCSSLPNVPGSCKETFNLYYYETDSVIATKKSAFWSEAPYLKVDTIAADESFSQVD
  FGGRLMKVNTEVRSFGPLTRNGFYLAFQDYGACMSLLSVRVFFKKCPSIVQNFAVFPETMTGAESTSLVIARGTC
  IPNAEEVDVPIKLYCNGDGEWMVPIGRCTCKPGYEPENSVACKACPAGTFKASQEAEGCSHCPSNSRSPAEASPI
  CTCRTGYYRADFDPPEVACTSVPSGPRNVISIVNETSIILEWHPPRETGGRDDVTYNIICKKCRADRRSCSRCDD
  NVEFVPRQLGLTECRVSISSLWAHTPYTFDIQAINGVSSKSPFPPQHVSVNITTNQAAPSTVPIMHQVSATMRSI
  TLSWPQPEQPNGIILDYEIRYYEKEHNEFNSSMARSQTNTARIDGLRPGMVYVVQVRARTVAGYGKFSGKMCFQT
  LTDDDYKSELREQLPLIAGSAAAGVVFVVSLVAISIVCSRKRAYSKEAVYSDKLQHYSTGRGSPGMKIYIDPFTY
  EDPNEAVREFAKEIDVSFVKIEEVIGAGEFGEVYKGRLKLPGKREIYVAIKTLKAGYSEKQRRDFLSEASIMGQF
  DHPNIIRLEGVVTKSRPVMIITEFMENGALDSFLRQNDGQFTVIQLVGMLRGIAAGMKYLAEMNYVHRDLAARNI
  LVNSNLVCKVSDFGLSRYLQDDTSDPTYTSSLGGKIPVRWTAPEAIAYRKFTSASDVWSYGIVMWEVMSFGERPY
  WDMSNQDVINAIEQDYRLPPPMDCPAALHQLMLDCWQKDRNSRPRFAEIVNTLDKMIRNPASLKTVATITAVPSQ
  PLLDRSIPDFTAFTTVDDWLSAIKMVQYRDSFLTAGFTSLQLVTQMTSEDLLRIGITLAGHQKKILNSIHSMRVQ
  ISQSPTAMA

• Structural information:
  • Protein Domains: (19..20-)
    (/note="Eph-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00883-)
    (322..43-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (433..52-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:000-)
  • Interpro: IPR027936  IPR034231  IPR042819  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: cd10476 cd00063 cd09551
  • PDB: 2DJS 2EAO 3ZFX 5MJA 5MJB
  • PDBsum: 2DJS 2EAO 3ZFX 5MJA 5MJB
  • STRING: ENSP00000381097
• Other Databases: GeneCards:  EPHB1  Malacards:  EPHB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043235	receptor complex	IBA	cellular component
GO:0033674	positive regulation of kinase activity	IBA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA	molecular function
GO:0007275	multicellular organism development	IBA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0070372	regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0070372	regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0048013	ephrin receptor signaling pathway	IDA	biological process
GO:0048013	ephrin receptor signaling pathway	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046328	regulation of JNK cascade	IDA	biological process
GO:0031901	early endosome membrane	IDA	cellular component
GO:0031589	cell-substrate adhesion	IDA	biological process
GO:0001525	angiogenesis	IDA	biological process
GO:0060326	cell chemotaxis	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005005	transmembrane-ephrin receptor activity	IDA	molecular function
GO:0060996	dendritic spine development	ISS	biological process
GO:0031290	retinal ganglion cell axon guidance	ISS	biological process
GO:0030010	establishment of cell polarity	ISS	biological process
GO:0022008	neurogenesis	ISS	biological process
GO:1902725	negative regulation of satellite cell differentiation	ISS	biological process
GO:0061351	neural precursor cell proliferation	ISS	biological process
GO:0060997	dendritic spine morphogenesis	ISS	biological process
GO:0051965	positive regulation of synapse assembly	ISS	biological process
GO:0050965	detection of temperature stimulus involved in sensory perception of pain	ISS	biological process
GO:0021952	central nervous system projection neuron axonogenesis	ISS	biological process
GO:0007411	axon guidance	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:0005515	protein binding	IPI	molecular function
GO:1902723	negative regulation of skeletal muscle satellite cell proliferation	ISS	biological process
GO:0014719	skeletal muscle satellite cell activation	ISS	biological process
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:0016740	transferase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma 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: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:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	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:0005515	protein binding	IPI	molecular function
GO:0060996	dendritic spine development	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:1902725	negative regulation of satellite cell differentiation	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0060996	dendritic spine development	IEA	biological process
GO:0048013	ephrin receptor signaling pathway	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0032433	filopodium tip	IEA	cellular component
GO:0031290	retinal ganglion cell axon guidance	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030010	establishment of cell polarity	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0001771	immunological synapse formation	IEA	biological process
GO:1902723	negative regulation of skeletal muscle satellite cell proliferation	IEA	biological process
GO:0061351	neural precursor cell proliferation	IEA	biological process
GO:0060997	dendritic spine morphogenesis	IEA	biological process
GO:0060326	cell chemotaxis	IEA	biological process
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:0050965	detection of temperature stimulus involved in sensory perception of pain	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0021952	central nervous system projection neuron axonogenesis	IEA	biological process
GO:0021631	optic nerve morphogenesis	IEA	biological process
GO:0021545	cranial nerve development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0014719	skeletal muscle satellite cell activation	IEA	biological process
GO:0008046	axon guidance receptor activity	IEA	molecular function
GO:0007411	axon guidance	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	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
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:1901214	regulation of neuron death	IMP	biological process

KEGG pathways

Pathway id	Pathway name
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 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