Ephrin B1

Ephrin B1 is a protein that in humans is encoded by the EFNB1 gene.^[5][6] It is 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.^[7]

EFNB1
Identifiers
Aliases	EFNB1, CFND, CFNS, EFB1, EFL3, EPLG2, Elk-L, LERK2, ephrin B1
External IDs	OMIM: 300035; MGI: 102708; HomoloGene: 3263; GeneCards: EFNB1; OMA:EFNB1 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq13.1 Start 68,829,021 bp[1] End 68,842,160 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X C3|X 43.22 cM Start 98,179,736 bp[2] End 98,192,597 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone right lung ganglionic eminence mucosa of transverse colon skin of abdomen skin of leg upper lobe of left lung tibial nerve apex of heart ectocervix Top expressed in ventricular zone Ileal epithelium external carotid artery lumbar spinal ganglion internal carotid artery Rostral migratory stream renal corpuscle lip yolk sac gastrula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding ephrin receptor binding protein tyrosine kinase activity Cellular component integral component of membrane nucleus extracellular exosome membrane membrane raft integral component of plasma membrane synapse cytoplasm plasma membrane Biological process positive regulation of T cell proliferation nervous system development cell-cell signaling T cell costimulation multicellular organism development neural crest cell migration cell differentiation cell adhesion embryonic pattern specification axon guidance ephrin receptor signaling pathway peptidyl-tyrosine phosphorylation Sources:Amigo / QuickGO
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: 68.83 – 68.84 Mb Chr X: 98.18 – 98.19 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Mutations in this protein are responsible for most cases of craniofrontonasal syndrome.^[8][9][10]

Interactions

EFNB1 has been shown to interact with SDCBP.^[11]