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Symbols EFNB1 ; CFND; CFNS; EFB1; EFL3; EPLG2; Elk-L; LERK2
External IDs OMIM300035 MGI102708 HomoloGene3263 GeneCards: EFNB1 Gene
RNA expression pattern
PBB GE EFNB1 202711 at tn.png
More reference expression data
Species Human Mouse
Entrez 1947 13641
Ensembl ENSG00000090776 ENSMUSG00000031217
UniProt P98172 P52795
RefSeq (mRNA) NM_004429 NM_010110
RefSeq (protein) NP_004420 NP_034240
Location (UCSC) Chr X:
68.83 – 68.84 Mb
Chr X:
99.14 – 99.15 Mb
PubMed search [1] [2]

Ephrin-B1 is a protein that in humans is encoded by the EFNB1 gene.[1][2]

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.[3]

Mutations in this protein are responsible for most cases of craniofrontonasal syndrome.[4][5][6]


EFNB1 has been shown to interact with SDCBP.[7]


  1. ^ 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. 
  2. ^ 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. 
  3. ^ "Entrez Gene: EFNB1 ephrin-B1". 
  4. ^ 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. 
  5. ^ 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. doi:10.1073/pnas.0402819101. PMC 423250. PMID 15166289. 
  6. ^ 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 1182084. PMID 15124102. 
  7. ^ 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. 

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