• Gene id: 2050

Gene Summary

• Gene Symbol: EPHB4   Gene   UCSC   Ensembl
• Aliases: CMAVM2, HFASD, HTK, LMPHM7, MYK1, TYRO11
• Gene name: EPH receptor B4
• Alternate names: ephrin type-B receptor 4, ephrin receptor EphB4, hepatoma transmembrane kinase, soluble EPHB4 variant 1, soluble EPHB4 variant 2, soluble EPHB4 variant 3, tyrosine-protein kinase TYRO11, tyrosine-protein kinase receptor HTK,
• Gene location: 7q22.1 (100827522: 100802564)     Exons: 17     NC_000007.14
• 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: 133170

Protein Summary

• Protein general information: P54760  
  • Name: Ephrin type B receptor 4 (EC 2.7.10.1) (Hepatoma transmembrane kinase) (Tyrosine protein kinase TYRO11)
  • Length: 987  
  • Mass: 108270
  • Tissue specificity: Abundantly expressed in placenta but also detected in kidney, liver, lung, pancreas, skeletal muscle and heart. Expressed in primitive and myeloid, but not lymphoid, hematopoietic cells. Also observed in cell lines derived from liver,
• Sequence:

  MELRVLLCWASLAAALEETLLNTKLETADLKWVTFPQVDGQWEELSGLDEEQHSVRTYEVCDVQRAPGQAHWLRT
  GWVPRRGAVHVYATLRFTMLECLSLPRAGRSCKETFTVFYYESDADTATALTPAWMENPYIKVDTVAAEHLTRKR
  PGAEATGKVNVKTLRLGPLSKAGFYLAFQDQGACMALLSLHLFYKKCAQLTVNLTRFPETVPRELVVPVAGSCVV
  DAVPAPGPSPSLYCREDGQWAEQPVTGCSCAPGFEAAEGNTKCRACAQGTFKPLSGEGSCQPCPANSHSNTIGSA
  VCQCRVGYFRARTDPRGAPCTTPPSAPRSVVSRLNGSSLHLEWSAPLESGGREDLTYALRCRECRPGGSCAPCGG
  DLTFDPGPRDLVEPWVVVRGLRPDFTYTFEVTALNGVSSLATGPVPFEPVNVTTDREVPPAVSDIRVTRSSPSSL
  SLAWAVPRAPSGAVLDYEVKYHEKGAEGPSSVRFLKTSENRAELRGLKRGASYLVQVRARSEAGYGPFGQEHHSQ
  TQLDESEGWREQLALIAGTAVVGVVLVLVVIVVAVLCLRKQSNGREAEYSDKHGQYLIGHGTKVYIDPFTYEDPN
  EAVREFAKEIDVSYVKIEEVIGAGEFGEVCRGRLKAPGKKESCVAIKTLKGGYTERQRREFLSEASIMGQFEHPN
  IIRLEGVVTNSMPVMILTEFMENGALDSFLRLNDGQFTVIQLVGMLRGIASGMRYLAEMSYVHRDLAARNILVNS
  NLVCKVSDFGLSRFLEENSSDPTYTSSLGGKIPIRWTAPEAIAFRKFTSASDAWSYGIVMWEVMSFGERPYWDMS
  NQDVINAIEQDYRLPPPPDCPTSLHQLMLDCWQKDRNARPRFPQVVSALDKMIRNPASLKIVARENGGASHPLLD
  QRQPHYSAFGSVGEWLRAIKMGRYEESFAAAGFGSFELVSQISAEDLLRIGVTLAGHQKKILASVQHMKSQAKPG
  TPGGTGGPAPQY

• Structural information:
  • Protein Domains: (17..20-)
    (/note="Eph-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00883-)
    (323..43-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (436..52-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:000-)
  • Interpro: IPR037636  IPR027936  IPR034290  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: cd10474 cd00063 cd09554
  • PDB: 2BBA 2E7H 2HLE 2QKQ 2VWU 2VWV 2VWW 2VWX 2VWY 2VWZ 2VX0 2VX1 2X9F 2XVD 2YN8 3ZEW 4AW5 4BB4 6FNI 6FNJ 6FNK 6FNL 6FNM
  • PDBsum: 2BBA 2E7H 2HLE 2QKQ 2VWU 2VWV 2VWW 2VWX 2VWY 2VWZ 2VX0 2VX1 2X9F 2XVD 2YN8 3ZEW 4AW5 4BB4 6FNI 6FNJ 6FNK 6FNL 6FNM
  • STRING: ENSP00000350896
• Other Databases: GeneCards:  EPHB4  Malacards:  EPHB4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005003	ephrin receptor activity	IDA	molecular function
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:0048013	ephrin receptor signaling pathway	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0005003	ephrin receptor activity	IDA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IDA	molecular function
GO:0007155	cell adhesion	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0002042	cell migration involved in sprouting angiogenesis	IDA	biological process
GO:0001525	angiogenesis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003007	heart morphogenesis	ISS	biological process
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:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP 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: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: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
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Capillary malformation-arteriovenous malformation	KEGG:H02043
Capillary malformation-arteriovenous malformation	KEGG:H02043
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq