• Gene id: 2051

Gene Summary

• Gene Symbol: EPHB6   Gene   UCSC   Ensembl
• Aliases: HEP
• Gene name: EPH receptor B6
• Alternate names: ephrin type-B receptor 6, human kinase-defective Eph-family receptor protein, tyrosine-protein kinase-defective receptor EPH-6,
• Gene location: 7q34 (142854638: 142871092)     Exons: 21     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can in
• OMIM: 603161

Protein Summary

• Protein general information: O15197  
  • Name: Ephrin type B receptor 6 (HEP) (Tyrosine protein kinase defective receptor EPH 6)
  • Length: 1021  
  • Mass: 110700
  • Tissue specificity: Expressed in brain. Expressed in non invasive breast carcinoma cell lines (at protein level). Strong expression in brain and pancreas, and weak expression in other tissues, such as heart, placenta, lung, liver, skeletal muscle and kidn
• Sequence:

  MATEGAAQLGNRVAGMVCSLWVLLLVSSVLALEEVLLDTTGETSEIGWLTYPPGGWDEVSVLDDQRRLTRTFEAC
  HVAGAPPGTGQDNWLQTHFVERRGAQRAHIRLHFSVRACSSLGVSGGTCRETFTLYYRQAEEPDSPDSVSSWHLK
  RWTKVDTIAADESFPSSSSSSSSSSSAAWAVGPHGAGQRAGLQLNVKERSFGPLTQRGFYVAFQDTGACLALVAV
  RLFSYTCPAVLRSFASFPETQASGAGGASLVAAVGTCVAHAEPEEDGVGGQAGGSPPRLHCNGEGKWMVAVGGCR
  CQPGYQPARGDKACQACPRGLYKSSAGNAPCSPCPARSHAPNPAAPVCPCLEGFYRASSDPPEAPCTGPPSAPQE
  LWFEVQGSALMLHWRLPRELGGRGDLLFNVVCKECEGRQEPASGGGGTCHRCRDEVHFDPRQRGLTESRVLVGGL
  RAHVPYILEVQAVNGVSELSPDPPQAAAINVSTSHEVPSAVPVVHQVSRASNSITVSWPQPDQTNGNILDYQLRY
  YDQAEDESHSFTLTSETNTATVTQLSPGHIYGFQVRARTAAGHGPYGGKVYFQTLPQGELSSQLPERLSLVIGSI
  LGALAFLLLAAITVLAVVFQRKRRGTGYTEQLQQYSSPGLGVKYYIDPSTYEDPCQAIRELAREVDPAYIKIEEV
  IGTGSFGEVRQGRLQPRGRREQTVAIQALWAGGAESLQMTFLGRAAVLGQFQHPNILRLEGVVTKSRPLMVLTEF
  MELGPLDSFLRQREGQFSSLQLVAMQRGVAAAMQYLSSFAFVHRSLSAHSVLVNSHLVCKVARLGHSPQGPSCLL
  RWAAPEVIAHGKHTTSSDVWSFGILMWEVMSYGERPYWDMSEQEVLNAIEQEFRLPPPPGCPPGLHLLMLDTWQK
  DRARRPHFDQLVAAFDKMIRKPDTLQAGGDPGERPSQALLTPVALDFPCLDSPQAWLSAIGLECYQDNFSKFGLC
  TFSDVAQLSLEDLPALGITLAGHQKKLLHHIQLLQQHLRQQGSVEV

• Structural information:
  • Protein Domains: (33..23-)
    (/note="Eph-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00883-)
    (369..48-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (487..58-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:000-)
  • Interpro: IPR027936  IPR001090  IPR003961  IPR036116  IPR008979   IPR009030  IPR013783  IPR011009  IPR000719  IPR001660  IPR013761  IPR001245  IPR011641  IPR016257  IPR001426  
  • Prosite: PS51550 PS50853 PS50011 PS00790 PS00791 PS50105
  • CDD: cd00063
  • STRING: ENSP00000481994
• Other Databases: GeneCards:  EPHB6  Malacards:  EPHB6

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: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:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005003	ephrin receptor activity	TAS	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:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray