Ephrin B1

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EFNB1
Identifiers
AliasesEFNB1, CFND, CFNS, EFB1, EFL3, EPLG2, Elk-L, LERK2, ephrin B1
External IDsMGI: 102708 HomoloGene: 3263 GeneCards: EFNB1
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for EFNB1
Genomic location for EFNB1
BandXq13.1Start68,828,997 bp[1]
End68,842,147 bp[1]
RNA expression pattern
PBB GE EFNB1 202711 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004429

NM_010110

RefSeq (protein)

NP_004420

NP_034240

Location (UCSC)Chr X: 68.83 – 68.84 MbChr X: 99.14 – 99.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ephrin-B1 is a protein that in humans is encoded by the EFNB1 gene.[5][6]

This gene encodes a member of the ephrin family. The encoded protein 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.[7]

Mutations in this protein are responsible for most cases of craniofrontonasal syndrome.[8][9][10]

Interactions[edit]

EFNB1 has been shown to interact with SDCBP.[11]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000090776 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031217 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Fletcher FA, Huebner K, Shaffer LG, Fairweather ND, Monaco AP, Muller U, Druck T, Simoneaux DK, Chelly J, Belmont JW, et al. (Jul 1995). "Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase Elk to a 200-kilobasepair region in human chromosome Xq12". Genomics. 25 (1): 334–5. doi:10.1016/0888-7543(95)80156-G. PMID 7774950. 
  6. ^ Shotelersuk V, Siriwan P, Ausavarat S (Mar 2006). "A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome". Cleft Palate Craniofac J. 43 (2): 152–4. doi:10.1597/05-014.1. PMID 16526919. 
  7. ^ "Entrez Gene: EFNB1 ephrin-B1". 
  8. ^ Wieland I, Weidner C, Ciccone R, et al. (December 2007). "Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome". Clin. Genet. 72 (6): 506–16. doi:10.1111/j.1399-0004.2007.00905.x. PMID 17941886. 
  9. ^ Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO (Jun 2004). "Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome". Proc Natl Acad Sci U S A. 101 (23): 8652–7. Bibcode:2004PNAS..101.8652T. doi:10.1073/pnas.0402819101. PMC 423250Freely accessible. PMID 15166289. 
  10. ^ Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P (Jun 2004). "Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome". Am J Hum Genet. 74 (6): 1209–15. doi:10.1086/421532. PMC 1182084Freely accessible. PMID 15124102. 
  11. ^ Lin, D; Gish G D; Songyang Z; Pawson T (Feb 1999). "The carboxyl terminus of B class ephrins constitutes a PDZ domain binding motif". J. Biol. Chem. UNITED STATES. 274 (6): 3726–33. doi:10.1074/jbc.274.6.3726. ISSN 0021-9258. PMID 9920925. 

Further reading[edit]