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EFNB1 ephrin B1 [ Homo sapiens (human) ]

Gene ID: 1947, updated on 7-Jun-2020

Summary

Official Symbol
EFNB1provided by HGNC
Official Full Name
ephrin B1provided by HGNC
Primary source
HGNC:HGNC:3226
See related
Ensembl:ENSG00000090776 MIM:300035
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

Genomic context

See EFNB1 in Genome Data Viewer
Location:
Xq13.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (68829021..68842160)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (68048840..68062007)

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 uncharacterized LOC102723911 Neighboring gene uncharacterized LOC105373242 Neighboring gene uncharacterized LOC107985646

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

Little evidence for dosage pathogenicity (Last evaluated (2012-07-26)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-26)

ClinGen Genome Curation PagePubMed

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8782

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ephrin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
T cell costimulation IEA
Inferred from Electronic Annotation
more info
 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
embryonic pattern specification IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
neural crest cell migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..18168
    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
    P98172
    Related
    ENSP00000204961.4, ENST00000204961.5
    Conserved Domains (1) summary
    cd10426
    Location:31165
    Ephrin-B_Ectodomain; Ectodomain of Ephrin B

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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