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Hbegf Gene Detail
Summary
  • Symbol
    Hbegf
  • Name
    heparin-binding EGF-like growth factor
  • Synonyms
    Dtr, HB-EGF, Hegfl
  • Feature Type
    protein coding gene
  • IDs
    MGI:96070
    NCBI Gene: 15200
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr18:36504929-36515805 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10877 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 19.46 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    HBEGF, heparin binding EGF like growth factor
  • Vertebrate Orthologs
    8
  • Human Ortholog
    HBEGF, heparin binding EGF like growth factor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DTR, DTS, DTSF, HEGFL
  • Links
    NCBI Gene ID: 1839
    neXtProt AC: NX_Q99075
    UniProt: Q99075

  • Chr Location
    5q31.3; chr5:140332843-140346603 (-)  GRCh38.p7

Human Diseases
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  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 7 alleles in 7 genetic backgrounds
    44 phenotypes from multigenic genotypes
    3 images
    78 phenotype references
Phenotype Overview

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

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit grossly enlarged heart valves and ventricular chambers, and hypoplastic, immature lungs. Most mutants die by 3 weeks of age. Conditional deletion specifically in thge ventral forebrain results in behavior abnormalities and defects in pyramidal neurons.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024486 Ensembl Gene Model | MGI Sequence Detail 10877 C57BL/6J ±  kb
    transcript ENSMUST00000025363 Ensembl | MGI Sequence Detail 2373 Not Applicable  
    polypeptide ENSMUSP00000025363 Ensembl | MGI Sequence Detail 208 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      26 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      Genomic 2
      cDNA 33
      Primer pair 4
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-10692, MGI:2147342
    References
    more
    • Summaries
      All 160
      Developmental Gene Expression 29
      Diseases 2
      Gene Ontology 11
      Phenotypes 78
    • Earliest
      J:114809 Higashiyama S, et al., A heparin-binding growth factor secreted by macrophage-like cells that is related to EGF. Science. 1991 Feb 22;251(4996):936-9
    • Latest
      J:257264 Ah Kioon MD, et al., Plasmacytoid dendritic cells promote systemic sclerosis with a key role for TLR8. Sci Transl Med. 2018 Jan 10;10(423)

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory