EFNB1 (ephrin B1)

2003-11-01  

Identity

HGNC
LOCATION
Xq13.1
LOCUSID
ALIAS
CFND,CFNS,EFB1,EFL3,EPLG2,Elk-L,LERK2
FUSION GENES

Other Information

Locus ID:

NCBI: 1947
MIM: 300035
HGNC: 3226
Ensembl: ENSG00000090776

Variants:

dbSNP: 1947
ClinVar: 1947
TCGA: ENSG00000090776
COSMIC: EFNB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090776ENST00000204961P98172

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Axon guidanceKEGGko04360
Axon guidanceKEGGhsa04360
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPHB-mediated forward signalingREACTOMER-HSA-3928662
Ephrin signalingREACTOMER-HSA-3928664
EPH-ephrin mediated repulsion of cellsREACTOMER-HSA-3928665

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
356039622022Construction of three-gene-based prognostic signature and analysis of immune cells infiltration in children and young adults with B-acute lymphoblastic leukemia.3
356039622022Construction of three-gene-based prognostic signature and analysis of immune cells infiltration in children and young adults with B-acute lymphoblastic leukemia.3
320229982020Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.3
322408252020Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.3
323377932020EPH receptor B2 stimulates human monocyte adhesion and migration independently of its EphrinB ligands.9
333568372020Peripheral EphrinB1/EphB1 signalling attenuates muscle hyperalgesia in MPS patients and a rat model of taut band-associated persistent muscle pain.2
320229982020Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.3
322408252020Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.3
323377932020EPH receptor B2 stimulates human monocyte adhesion and migration independently of its EphrinB ligands.9
333568372020Peripheral EphrinB1/EphB1 signalling attenuates muscle hyperalgesia in MPS patients and a rat model of taut band-associated persistent muscle pain.2
303262472019Loss of EfnB1 in the osteogenic lineage compromises their capacity to support hematopoietic stem/progenitor cell maintenance.10
312855552019Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.1
303262472019Loss of EfnB1 in the osteogenic lineage compromises their capacity to support hematopoietic stem/progenitor cell maintenance.10
312855552019Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.1
292156492018A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.15

Citation

Dessen P

EFNB1 (ephrin B1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40415/efnb1