EFNB1

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Ephrin-B1
Identifiers
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
Orthologs
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:
68.05 – 68.06 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]

Interactions[edit]

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

References[edit]

  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. 

Further reading[edit]