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Aliases for HBEGF Gene

Aliases for HBEGF Gene

  • Heparin Binding EGF Like Growth Factor 2 3
  • Heparin-Binding EGF-Like Growth Factor 2 3 5
  • 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
  • HEGFL 3 4
  • DTR 3 4
  • DTS 3 4
  • DTSF 3

External Ids for HBEGF Gene

Previous HGNC Symbols for HBEGF Gene

  • HEGFL
  • DTS
  • DTR

Previous GeneCards Identifiers for HBEGF Gene

  • GC05M139694
  • GC05M134858

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 diphtheria and interstitial cystitis. Among its related pathways are Signaling by GPCR and Immune System. 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

Regulatory Elements for HBEGF Gene

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

ENSRs around HBEGF on UCSC Golden Path with GeneCards custom track

Genomic Location for HBEGF Gene

Chromosome:
5
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

Genes around HBEGF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence 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.
  • Glycosylation at Thr 37, Ser 38, Thr 44, Thr 47, Thr 75, Ser 77, and Thr 85
  • Modification sites at PhosphoSitePlus

Other Protein References for HBEGF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for HBEGF Gene

Domains & Families for HBEGF Gene

Protein Domains for HBEGF Gene

Graphical View of Domain Structure for InterPro Entry

Q99075

UniProtKB/Swiss-Prot:

HBEGF_HUMAN :
  • Contains 1 EGF-like domain.
Domain:
  • Contains 1 EGF-like domain.
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:0004713 protein tyrosine kinase activity TAS --
genes like me logo Genes that share ontologies with HBEGF: view
genes like me logo Genes that share phenotypes with HBEGF: view

Human Phenotype Ontology for HBEGF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HBEGF Gene

MGI Knock Outs for HBEGF:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HBEGF

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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:0005615 extracellular space IEA,TAS 15389565
GO:0030666 endocytic vesicle membrane TAS --
genes like me logo Genes that share ontologies with HBEGF: view

Pathways & Interactions for HBEGF Gene

SuperPathways for HBEGF Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 PI3K events in ERBB4 signaling
3 Apoptotic Pathways in Synovial Fibroblasts
4 Signaling by ERBB2
5 Immune System
genes like me logo Genes that share pathways with HBEGF: view

SIGNOR curated interactions for HBEGF Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for HBEGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0007173 epidermal growth factor receptor signaling pathway IEA,IMP 17655843
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007265 Ras protein signal transduction TAS --
genes like me logo Genes that share ontologies with HBEGF: view

Drugs & Compounds for HBEGF Gene

(34) Drugs for HBEGF Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist 719,239

(49) Additional Compounds for HBEGF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HBEGF

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for HBEGF Gene

This gene is overexpressed in Ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HBEGF: view

Protein tissue co-expression partners for HBEGF Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HBEGF Gene

Orthologs for HBEGF Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBEGF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HBEGF 35
  • 89.26 (n)
  • 87.98 (a)
HBEGF 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HBEGF 35
  • 89.42 (n)
  • 88.94 (a)
HBEGF 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hbegf 35
  • 82.53 (n)
  • 80.77 (a)
Hbegf 16
Hbegf 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HBEGF 35
  • 99.68 (n)
  • 99.52 (a)
HBEGF 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hbegf 35
  • 82.85 (n)
  • 81.73 (a)
oppossum
(Monodelphis domestica)
Mammalia HBEGF 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HBEGF 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves HBEGF 35
  • 70.5 (n)
  • 72.66 (a)
HBEGF 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HBEGF 36
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hbegfa 36
  • 39 (a)
OneToMany
hbegfb 36
  • 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
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 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

Variation tolerance for HBEGF Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HBEGF Gene

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

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

Disorders for HBEGF Gene

MalaCards: The human disease database

(12) MalaCards diseases for HBEGF Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diphtheria
  • corynebacterium infection
interstitial cystitis
  • trigonitis
urinary tract obstruction
  • obstructive uropathy
bladder disease
  • urinary bladder disease
perinatal necrotizing enterocolitis
  • enterocolitis necrotizing
- elite association - COSMIC cancer census association via MalaCards
Search HBEGF in MalaCards View complete list of genes associated with diseases

Relevant External Links for HBEGF

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

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

Publications for HBEGF Gene

  1. 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 67
  2. Function-specific intracellular signaling pathways downstream of heparin-binding EGF-like growth factor utilized by human trophoblasts. (PMID: 20130271) Jessmon P. … Armant D.R. (Biol. Reprod. 2010) 3 23
  3. Decreased expression of heparin-binding epidermal growth factor-like growth factor as a newly identified pathogenic mechanism of antiphospholipid-mediated defective placentation. (PMID: 20131286) Di Simone N. … Meroni P.L. (Arthritis Rheum. 2010) 3 23
  4. Preclinical neonatal rat studies of heparin-binding EGF-like growth factor in protection of the intestines from necrotizing enterocolitis. (PMID: 19127210) Radulescu A. … Besner G.E. (Pediatr. Res. 2009) 3 23
  5. HB-EGF-induced VEGF production and eNOS activation depend on both PI3 kinase and MAP kinase in HaCaT cells. (PMID: 19559571) Nakai K. … Kubota Y. (J. Dermatol. Sci. 2009) 3 23

Products for HBEGF Gene

Sources for HBEGF Gene

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