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Aliases for EFNB1 Gene

Aliases for EFNB1 Gene

  • Ephrin B1 2 3
  • ELK Ligand 3 4
  • Ephrin-B1 2 5
  • Elk-L 3 4
  • EPLG2 3 4
  • LERK2 3 4
  • EFL3 3 4
  • Craniofrontonasal Syndrome (Craniofrontonasal Dysplasia) 2
  • Eph-Related Receptor Tyrosine Kinase Ligand 2 3
  • EPH-Related Receptor Tyrosine Kinase Ligand 2 4
  • LERK-2 4
  • EFL-3 4
  • CFND 3
  • EFB1 3
  • CFNS 3

External Ids for EFNB1 Gene

Previous HGNC Symbols for EFNB1 Gene

  • EPLG2
  • CFNS

Previous GeneCards Identifiers for EFNB1 Gene

  • GC0XP064226
  • GC0XP065526
  • GC0XP066282
  • GC0XP066915
  • GC0XP067831
  • GC0XP067965
  • GC0XP068048
  • GC0XP061874

Summaries for EFNB1 Gene

Entrez Gene Summary for EFNB1 Gene

  • 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]

GeneCards Summary for EFNB1 Gene

EFNB1 (Ephrin B1) is a Protein Coding gene. Diseases associated with EFNB1 include craniofrontonasal dysplasia and craniosynostosis. Among its related pathways are Axon guidance and Angiogenesis (CST). GO annotations related to this gene include ephrin receptor binding. An important paralog of this gene is EFNB2.

UniProtKB/Swiss-Prot for EFNB1 Gene

  • Binds to the receptor tyrosine kinases EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity).

  • 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. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to the receptor tyrosine kinases EPHB3 (preferred), EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity).

Gene Wiki entry for EFNB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFNB1 Gene

Genomics for EFNB1 Gene

Regulatory Elements for EFNB1 Gene

Enhancers for EFNB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EFNB1 on UCSC Golden Path with GeneCards custom track

Promoters for EFNB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFNB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EFNB1 Gene

Chromosome:
X
Start:
68,828,997 bp from pter
End:
68,842,164 bp from pter
Size:
13,168 bases
Orientation:
Plus strand

Genomic View for EFNB1 Gene

Genes around EFNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFNB1 Gene

Proteins for EFNB1 Gene

  • Protein details for EFNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98172-EFNB1_HUMAN
    Recommended name:
    Ephrin-B1
    Protein Accession:
    P98172
    Secondary Accessions:
    • D3DVU0

    Protein attributes for EFNB1 Gene

    Size:
    346 amino acids
    Molecular mass:
    38007 Da
    Quaternary structure:
    • Interacts with GRIP1 and GRIP2. Interacts with TLE1.

neXtProt entry for EFNB1 Gene

Proteomics data for EFNB1 Gene at MOPED

Post-translational modifications for EFNB1 Gene

  • Inducible phosphorylation of tyrosine residues in the cytoplasmic domain.
  • Ubiquitination at Lys 289
  • Glycosylation at Asn 139, Ser 179, Ser 201, and Thr 211
  • Modification sites at PhosphoSitePlus

Other Protein References for EFNB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EFNB1 (EFNB1)

No data available for DME Specific Peptides for EFNB1 Gene

Domains & Families for EFNB1 Gene

Gene Families for EFNB1 Gene

Protein Domains for EFNB1 Gene

Suggested Antigen Peptide Sequences for EFNB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P98172

UniProtKB/Swiss-Prot:

EFNB1_HUMAN :
  • Contains 1 ephrin RBD (ephrin receptor-binding) domain.
  • Belongs to the ephrin family.
Domain:
  • Contains 1 ephrin RBD (ephrin receptor-binding) domain.
Family:
  • Belongs to the ephrin family.
genes like me logo Genes that share domains with EFNB1: view

Function for EFNB1 Gene

Molecular function for EFNB1 Gene

GENATLAS Biochemistry:
ephrin B-1,eph-related receptor tyrosine kinase,class B,ligand,high affinity,involved in short-range contact-mediated axonal guidance
UniProtKB/Swiss-Prot Function:
Binds to the receptor tyrosine kinases EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity).
UniProtKB/Swiss-Prot 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. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to the receptor tyrosine kinases EPHB3 (preferred), EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity).
UniProtKB/Swiss-Prot Induction:
By TNF.

LifeMap Function Summary for EFNB1 Gene

It affects the following cells:
EFNB1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
genes like me logo Genes that share phenotypes with EFNB1: view

Human Phenotype Ontology for EFNB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EFNB1 Gene

MGI Knock Outs for EFNB1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for EFNB1 Gene

Localization for EFNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFNB1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFNB1 Gene COMPARTMENTS Subcellular localization image for EFNB1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 3
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EFNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 8660976
GO:0016020 membrane IEA --
GO:0045202 synapse ISS --
genes like me logo Genes that share ontologies with EFNB1: view

Pathways & Interactions for EFNB1 Gene

genes like me logo Genes that share pathways with EFNB1: view

Pathways by source for EFNB1 Gene

1 KEGG pathway for EFNB1 Gene
2 Qiagen pathways for EFNB1 Gene

SIGNOR curated interactions for EFNB1 Gene

Activates:

Gene Ontology (GO) - Biological Process for EFNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration IEA --
GO:0007155 cell adhesion TAS 8798744
GO:0007267 cell-cell signaling TAS 8798744
GO:0007411 axon guidance IEA,IBA --
GO:0031295 T cell costimulation IEA --
genes like me logo Genes that share ontologies with EFNB1: view

Drugs & Compounds for EFNB1 Gene

(1) Drugs for EFNB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EFNB1: view

Transcripts for EFNB1 Gene

mRNA/cDNA for EFNB1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(270) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EFNB1 Gene

Ephrin-B1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EFNB1 Gene

No ASD Table

Relevant External Links for EFNB1 Gene

GeneLoc Exon Structure for
EFNB1
ECgene alternative splicing isoforms for
EFNB1

Expression for EFNB1 Gene

mRNA expression in normal human tissues for EFNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EFNB1 Gene

This gene is overexpressed in Bone (31.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EFNB1 Gene



SOURCE GeneReport for Unigene cluster for EFNB1 Gene Hs.144700

mRNA Expression by UniProt/SwissProt for EFNB1 Gene

P98172-EFNB1_HUMAN
Tissue specificity: Heart, placenta, lung, liver, skeletal muscle, kidney, pancreas.
genes like me logo Genes that share expression patterns with EFNB1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for EFNB1 Gene

Orthologs for EFNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFNB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EFNB1 35
  • 92.29 (n)
  • 96.24 (a)
EFNB1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFNB1 35
  • 91.52 (n)
  • 95.21 (a)
EFNB1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efnb1 35
  • 90.72 (n)
  • 95.94 (a)
Efnb1 16
Efnb1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EFNB1 35
  • 99.62 (n)
  • 99.62 (a)
EFNB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efnb1 35
  • 90.43 (n)
  • 95.36 (a)
oppossum
(Monodelphis domestica)
Mammalia EFNB1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFNB1 35
  • 77.45 (n)
  • 79.94 (a)
EFNB1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFNB1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494328 35
  • 72.94 (n)
  • 75.86 (a)
African clawed frog
(Xenopus laevis)
Amphibia efnb1-A 35
zebrafish
(Danio rerio)
Actinopterygii efnb1 35
  • 66.77 (n)
  • 71.69 (a)
efnb1 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ephrin 36
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea efn-2 36
  • 28 (a)
ManyToMany
efn-3 36
  • 27 (a)
ManyToMany
vab-2 36
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7000 36
  • 24 (a)
OneToMany
Species with no ortholog for EFNB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EFNB1 Gene

ENSEMBL:
Gene Tree for EFNB1 (if available)
TreeFam:
Gene Tree for EFNB1 (if available)

Paralogs for EFNB1 Gene

Paralogs for EFNB1 Gene

(2) SIMAP similar genes for EFNB1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EFNB1: view

Variants for EFNB1 Gene

Sequence variations from dbSNP and Humsavar for EFNB1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_023127 Craniofrontonasal syndrome (CFNS)
VAR_023128 Craniofrontonasal syndrome (CFNS)
VAR_023129 Craniofrontonasal syndrome (CFNS)
VAR_023130 Craniofrontonasal syndrome (CFNS)
VAR_023131 Craniofrontonasal syndrome (CFNS)

Structural Variations from Database of Genomic Variants (DGV) for EFNB1 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
nsv516469 CNV Gain 19592680

Variation tolerance for EFNB1 Gene

Residual Variation Intolerance Score: 17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFNB1 Gene

HapMap Linkage Disequilibrium report
EFNB1
Human Gene Mutation Database (HGMD)
EFNB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFNB1 Gene

Disorders for EFNB1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for EFNB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
craniofrontonasal dysplasia
  • craniofrontonasal syndrome
craniosynostosis
  • premature closure of cranial sutures
congenital diaphragmatic hernia
  • diaphragmatic hernia
synostosis
diaphragm disease
  • disease of diaphragm
- elite association - COSMIC cancer census association via MalaCards
Search EFNB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EFNB1_HUMAN
  • Craniofrontonasal syndrome (CFNS) [MIM:304110]: X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies. {ECO:0000269 PubMed:15124102, ECO:0000269 PubMed:15166289, ECO:0000269 PubMed:15959873}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EFNB1

Genetic Association Database (GAD)
EFNB1
Human Genome Epidemiology (HuGE) Navigator
EFNB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFNB1
genes like me logo Genes that share disorders with EFNB1: view

No data available for Genatlas for EFNB1 Gene

Publications for EFNB1 Gene

  1. Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). (PMID: 15959873) Wieland I. … Wieacker P. (Hum. Mutat. 2005) 3 4 23 67
  2. A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. (PMID: 16526919) Shotelersuk V. … Ausavarat S. (Cleft Palate Craniofac. J. 2006) 2 3 23
  3. Ephrin-B1 reverse signaling controls a posttranscriptional feedback mechanism via miR-124. (PMID: 20308325) Arvanitis D.N. … Davy A. (Mol. Cell. Biol. 2010) 3 23
  4. A novel combination of factors, termed SPIE, which promotes dopaminergic neuron differentiation from human embryonic stem cells. (PMID: 19672298) Vazin T. … Freed W.J. (PLoS ONE 2009) 3 23
  5. Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. (PMID: 18043713) Wieland I. … Wieacker P. (Eur. J. Hum. Genet. 2008) 3 23

Products for EFNB1 Gene

Sources for EFNB1 Gene

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