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Aliases for HBEGF Gene

Aliases for HBEGF Gene

  • Heparin-Binding EGF-Like Growth Factor 2 3
  • HEGFL 3 4 6
  • DTR 3 4 6
  • Diphtheria Toxin Receptor (Heparin-Binding Epidermal Growth Factor-Like Growth Factor) 2 3
  • Diphtheria Toxin Receptor (Heparin-Binding EGF-Like Growth Factor) 2 3
  • Heparin-Binding Epidermal Growth Factor 2 3
  • DTSF 3 6
  • DTS 3 4
  • Proheparin-Binding EGF-Like Growth Factor 3

External Ids for HBEGF Gene

Previous Symbols for HBEGF Gene

  • HEGFL
  • DTS
  • DTR

Summaries for HBEGF Gene

GeneCards Summary for HBEGF Gene

HBEGF (Heparin-Binding EGF-Like Growth Factor) is a Protein Coding gene. Diseases associated with HBEGF include perinatal necrotizing enterocolitis and diphtheria. Among its related pathways are PI-3K cascade and PI-3K cascade. GO annotations related to this gene include growth factor activity and epidermal growth factor receptor binding. An important paralog of this gene is AREG.

UniProtKB/Swiss-Prot for HBEGF Gene

  • Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor

Gene Wiki entry for HBEGF Gene

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

Genomics for HBEGF Gene

Genomic Location for HBEGF Gene

Start:
140,332,843 bp from pter
End:
140,346,631 bp from pter
Size:
13,789 bases
Orientation:
Minus strand

Genomic View for HBEGF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HBEGF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBEGF Gene

Regulatory Elements for HBEGF Gene

Proteins for HBEGF Gene

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

    Protein Symbol:
    Q99075-HBEGF_HUMAN
    Recommended name:
    Proheparin-binding EGF-like growth factor
    Protein Accession:
    Q99075
    Secondary Accessions:
    • B2R821

    Protein attributes for HBEGF Gene

    Size:
    208 amino acids
    Molecular mass:
    23067 Da
    Quaternary structure:
    • Interacts with FBLN1 (By similarity). Interacts with EGFR and ERBB4.

    Three dimensional structures from OCA and Proteopedia for HBEGF Gene

neXtProt entry for HBEGF Gene

Proteomics data for HBEGF Gene at MOPED

Post-translational modifications for HBEGF Gene

  • O-glycosylated with core 1 or possibly core 8 glycans. Thr-47 is a minor glycosylation site compared to Thr-44.
  • Several N-termini have been identified by direct sequencing. The forms with N-termini 63, 73 and 74 have been tested and found to be biologically active
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr37, Ser38, Thr44, Thr47, Thr75, Ser77, Ser78, and Thr85

Other Protein References for HBEGF Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HBEGF Gene

Domains for HBEGF Gene

Protein Domains for HBEGF Gene

UniProtKB/Swiss-Prot:

HBEGF_HUMAN
Domain:
  • Contains 1 EGF-like domain.:
    • Q99075
genes like me logo Genes that share domains with HBEGF: view

No data available for Gene Families for HBEGF Gene

Function for HBEGF Gene

Molecular function for HBEGF Gene

UniProtKB/Swiss-Prot Function: Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor

LifeMap Function Summary for HBEGF Gene

Gene Ontology (GO) - Molecular Function for HBEGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005154 epidermal growth factor receptor binding IEA --
GO:0005515 protein binding --
GO:0008083 growth factor activity IDA 12070119
GO:0008201 heparin binding IMP 8300582
genes like me logo Genes that share ontologies with HBEGF: view
genes like me logo Genes that share phenotypes with HBEGF: view

Animal Models for HBEGF Gene

MGI Knock Outs for HBEGF:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HBEGF Gene

Localization for HBEGF Gene

Subcellular locations from UniProtKB/Swiss-Prot for HBEGF Gene

Heparin-binding EGF-like growth factor: Secreted, extracellular space. Note=Mature HB-EGF is released into the extracellular space and probably binds to a receptor.
Proheparin-binding EGF-like growth factor: Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HBEGF Gene COMPARTMENTS Subcellular localization image for HBEGF gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 2
cytoskeleton 1
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HBEGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 15389565
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 15389565
GO:0009986 cell surface NAS 15289334
genes like me logo Genes that share ontologies with HBEGF: view

Pathways for HBEGF Gene

SuperPathways for HBEGF Gene

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

Gene Ontology (GO) - Biological Process for HBEGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 1840698
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007517 muscle organ development TAS 8347598
GO:0008016 regulation of heart contraction IEA --
GO:0008284 positive regulation of cell proliferation IBA --
genes like me logo Genes that share ontologies with HBEGF: view

Compounds for HBEGF Gene

(1) HMDB Compounds for HBEGF Gene

Compound Synonyms Cas Number PubMed IDs
Heparin
  • Arteven
9005-49-6

(83) Novoseek inferred chemical compound relationships for HBEGF Gene

Compound -log(P) Hits PubMed IDs
ag 1478 80.8 15
heparin 79.4 188
diphtheria toxin 71.7 4
pd153035 70.2 5
heparan sulfate 68.2 21
genes like me logo Genes that share compounds with HBEGF: view

Transcripts for HBEGF Gene

mRNA/cDNA for HBEGF Gene

Unigene Clusters for HBEGF Gene

Heparin-binding EGF-like growth factor:
Representative Sequences:

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

No ASD Table

Relevant External Links for HBEGF Gene

GeneLoc Exon Structure for
HBEGF
ECgene alternative splicing isoforms for
HBEGF

Expression for HBEGF Gene

mRNA expression in normal human tissues for HBEGF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HBEGF Gene

SOURCE GeneReport for Unigene cluster for HBEGF Gene Hs.799

genes like me logo Genes that share expressions with HBEGF: view

Orthologs for HBEGF Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBEGF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HBEGF 36
  • 99.68 (n)
  • 99.52 (a)
HBEGF 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HBEGF 36
  • 89.26 (n)
  • 87.98 (a)
HBEGF 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HBEGF 36
  • 89.42 (n)
  • 88.94 (a)
HBEGF 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hbegf 36
  • 82.53 (n)
  • 80.77 (a)
Hbegf 16
Hbegf 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HBEGF 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HBEGF 37
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hbegf 36
  • 82.85 (n)
  • 81.73 (a)
chicken
(Gallus gallus)
Aves HBEGF 36
  • 70.5 (n)
  • 72.66 (a)
HBEGF 37
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HBEGF 37
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hbegfa 37
  • 39 (a)
OneToMany
hbegfb 37
  • 31 (a)
OneToMany
Species with no ortholog for HBEGF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBEGF Gene

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

Paralogs for HBEGF Gene

Paralogs for HBEGF Gene

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

Variants for HBEGF Gene

Sequence variations from dbSNP and Humsavar for HBEGF Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs7268 -- 140,332,965(-) TGAAG(G/T)TATGC utr-variant-3-prime
rs13385 -- 140,333,293(-) CCCTG(C/T)CAAGT utr-variant-3-prime
rs1042184 -- 140,346,376(-) GCCGC(C/T)GCTTC utr-variant-5-prime
rs1803697 -- 140,332,918(-) CTGAA(C/G)TGTTA utr-variant-3-prime
rs2074611 -- 140,342,760(-) GAGCA(A/C/G/T)GGGAA missense, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv830507 CNV Loss 17160897
nsv509090 CNV Insertion 20534489

Relevant External Links for HBEGF Gene

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

Disorders for HBEGF Gene

(4) University of Copenhagen DISEASES for HBEGF Gene

(90) Novoseek inferred disease relationships for HBEGF Gene

Disease -log(P) Hits PubMed IDs
diphtheria 79.9 89
cystitis bacterial 54.6 3
bladder diseases 48 1
tumors 44.4 83
cancer 39.3 46

Relevant External Links for HBEGF

Genetic Association Database (GAD)
HBEGF
Human Genome Epidemiology (HuGE) Navigator
HBEGF
genes like me logo Genes that share disorders with HBEGF: view

No data available for UniProtKB/Swiss-Prot for HBEGF Gene

Publications for HBEGF Gene

  1. Structure of heparin-binding EGF-like growth factor. Multiple forms, primary structure, and glycosylation of the mature protein. (PMID: 1556128) Higashiyama S. … Klagsbrun M. (J. Biol. Chem. 1992) 3 4 23
  2. A heparin-binding growth factor secreted by macrophage-like cells that is related to EGF. (PMID: 1840698) Higashiyama S. … Klagsbrun M. (Science 1991) 3 4 23
  3. Diphtheria toxin binds to the epidermal growth factor (EGF)-like domain of human heparin-binding EGF-like growth factor/diphtheria toxin receptor and inhibits specifically its mitogenic activity. (PMID: 7836353) Mitamura T. … Mekada E. (J. Biol. Chem. 1995) 3 4 23
  4. Activation of HER4 by heparin-binding EGF-like growth factor stimulates chemotaxis but not proliferation. (PMID: 9135143) Elenius K. … Klagsbrun M. (EMBO J. 1997) 3 4 23
  5. Crystal structure of the complex of diphtheria toxin with an extracellular fragment of its receptor. (PMID: 9659904) Louie G.V. … Choe S. (Mol. Cell 1997) 3 4 23

Products for HBEGF Gene

  • Addgene plasmids for HBEGF

Sources for HBEGF Gene

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