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EFNB1 ephrin B1 [ Homo sapiens (human) ]

Gene ID: 1947, updated on 4-Jan-2025

Summary

Official Symbol
EFNB1provided by HGNC
Official Full Name
ephrin B1provided by HGNC
Primary source
HGNC:HGNC:3226
See related
Ensembl:ENSG00000090776 MIM:300035; AllianceGenome:HGNC:3226
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CFND; CFNS; EFB1; EFL3; EPLG2; Elk-L; LERK2
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 27.2), placenta (RPKM 17.2) and 23 other tissues See more
Orthologs
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Genomic context

See EFNB1 in Genome Data Viewer
Location:
Xq13.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (68829021..68842160)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (67262362..67275507)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (68048864..68062003)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ACTR3 pseudogene 2 Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68042984-68043484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68043485-68043985 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:68066477-68066977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68070598-68071098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68099266-68099854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68114641-68115154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68115155-68115666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68123133-68123632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68131927-68132591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68132592-68133256 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:68149462-68149665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68209602-68210102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29727 Neighboring gene uncharacterized LOC102723911 Neighboring gene uncharacterized LOC105373242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68253378-68254186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68256271-68256772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68280594-68281495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68314526-68315026 Neighboring gene uncharacterized LOC124905196

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Craniofrontonasal syndrome
MedGen: C0220767 OMIM: 304110 GeneReviews: Not available
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HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of EFNB1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC8782

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ephrin receptor binding  
enables ephrin receptor binding PubMed 
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in T cell costimulation  
involved_in T cell proliferation  
involved_in axon guidance  
involved_in cell adhesion PubMed 
involved_in cell-cell signaling PubMed 
involved_in embryonic pattern specification  
involved_in ephrin receptor signaling pathway  
involved_in neural crest cell migration  
involved_in positive regulation of T cell proliferation  
acts_upstream_of_positive_effect regulation of autophagosome assembly PubMed 
Component Evidence Code Pubs
is_active_in cell surface PubMed 
located_in cytoplasm  
located_in extracellular exosome PubMed 
is_active_in glutamatergic synapse  
located_in membrane raft  
located_in nucleus  
is_active_in plasma membrane  
located_in plasma membrane  
located_in plasma membrane  
is_active_in presynaptic membrane  
located_in synapse  

General protein information

Preferred Names
ephrin-B1
Names
ELK ligand
eph-related receptor tyrosine kinase ligand 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008887.1 RefSeqGene

    Range
    5025..18164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004429.5NP_004420.1  ephrin-B1 precursor

    See identical proteins and their annotated locations for NP_004420.1

    Status: REVIEWED

    Source sequence(s)
    BC016649, BM972960, CB132233
    Consensus CDS
    CCDS14391.1
    UniProtKB/Swiss-Prot
    D3DVU0, P98172
    Related
    ENSP00000204961.4, ENST00000204961.5
    Conserved Domains (1) summary
    cd10426
    Location:31165
    Ephrin-B_Ectodomain; Ectodomain of Ephrin B

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    68829021..68842160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    67262362..67275507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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