Gene Facts External Data Attribution

HGNC Symbol
EFNB1 (HGNC:3226) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ephrin B1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EPLG2, CFNS
Alias symbols
LERK2, Elk-L
%HI
5.79(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.93(Read more about gnomAD pLI score)
LOEUF
0.35(Read more about gnomAD LOEUF score)
Cytoband
Xq13.1
Genomic Coordinates
GRCh37/hg19: chrX:68048864-68062003 NCBI Ensembl UCSC
GRCh38/hg38: chrX:68829021-68842160 NCBI Ensembl UCSC
MANE Select Transcript
NM_004429.5 ENST00000204961.5 (Read more about MANE Select)
Function
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 ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12464
Curation Status:
Reopened
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)