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Efnb1 Gene Detail
Summary
  • Symbol
    Efnb1
  • Name
    ephrin B1
  • Synonyms
    Cek5-L, Cek5 ligand, EFL-3, Elk-L, Epl2, Eplg2, Lerk2, LERK-2, Stra1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102708
    NCBI Gene: 13641
  • Gene Overview
    MyGene.info: EFNB1
Location & Maps
more
  • Sequence Map
    ChrX:99136130-99148991 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12862 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    EFNB1, ephrin B1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EFNB1, ephrin B1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CFND, CFNS, EFB1, EFL3, Elk-L, EPLG2, LERK2
  • Links
    NCBI Gene ID: 1947
    neXtProt AC: NX_P98172

  • Chr Location
    Xq12; chrX:68828997-68842164 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3263
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: EFNB1
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Efnb1 mouse models; 1 with human EFNB1 associations

Human Disease Mouse Models
       Craniofrontonasal Syndrome; CFNS   OMIM: 304110 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    40 phenotypes from 8 alleles in 8 genetic backgrounds
    26 phenotypes from multigenic genotypes
    1 images
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Engineered alleles of this gene produce cranialfacial defects resulting in neonatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018065 VEGA Gene Model | MGI Sequence Detail 12862 C57BL/6J ±  kb
transcript OTTMUST00000043596 VEGA | MGI Sequence Detail 3258 Not Applicable  
polypeptide OTTMUSP00000019590 VEGA | MGI Sequence Detail 345 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    40 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 92
    Genomic 6
    cDNA 81
    Primer pair 3
    Other 2

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-19612
References
more
  • Summaries
    All 133
    Developmental Gene Expression 80
    Diseases 1
    Gene Ontology 14
    Phenotypes 28
  • Earliest
    J:21114 Shao H, et al., cDNA cloning and characterization of a ligand for the Cek5 receptor protein-tyrosine kinase. J Biol Chem. 1994 Oct 28;269(43):26606-9
  • Latest
    J:228962 Nunan R, et al., Ephrin-Bs Drive Junctional Downregulation and Actin Stress Fiber Disassembly to Enable Wound Re-epithelialization. Cell Rep. 2015 Nov 17;13(7):1380-95

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory