Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol EFNB1 contributors: mct - updated : 04-04-2020
HGNC name ephrin-B1
HGNC id 3226
ASSOCIATED DISORDERS
corresponding disease(s) CFNS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --other  
dysregulated in medulloblastoma (MB) and promotes oncogenic responses in MB cells
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerbrain 
potential therapeutic target in medulloblastoma (MB)
ANIMAL & CELL MODELS
  • targeted inactivation of the Eph receptor ligand ephrinB1 in mouse caused perinatal lethality, edema, defective body wall closure, and skeletal abnormalities (
  • Complete ablation of ephrin-B1 in mouse results in perinatal lethality associated with a range of phenotypes, including defects in neural crest cell (NCC)-derived tissues, incomplete body wall closure, and abnormal skeletal patterning (
  • triple ephrin B1, B2, B3 knockouts knockout show neuronal migration defects that recapitulate the ones observed in the neocortex, hippocampus and cerebellum of the reeler mouse (
  • EfnB1 mRNA and protein levels were significantly decreased in adipose tissues of obese mice and such reduction was mainly observed in mature adipocytes