EFNB1 gene

ephrin B1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene 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. [provided by RefSeq, Jul 2008]

From UniProt:

Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development (PubMed:8070404, PubMed:7973638). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:8070404, PubMed:7973638). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:8070404, PubMed:7973638). Can also bind EPHB2 and EPHB3 (PubMed:8070404). Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientation of longitudinally projecting axons.

From NCBI Gene:

  • Craniofrontonasal dysplasia

From UniProt:

Craniofrontonasal syndrome (CFNS): X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies. [MIM:304110]

Cytogenetic Location: Xq13.1, which is the long (q) arm of the X chromosome at position 13.1

Molecular Location: base pairs 68,828,997 to 68,842,164 on the X chromosome (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: Xq13.1, which is the long (q) arm of the X chromosome at position 13.1
  • CFND
  • CFNS
  • EFB1
  • EFL3
  • Elk-L
  • EPLG2
  • LERK2