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Aliases for HBEGF Gene

Aliases for HBEGF Gene

  • 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
  • Proheparin-Binding EGF-Like Growth Factor 3
  • Heparin-Binding EGF-Like Growth Factor 2
  • 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 Urinary Tract Obstruction. Among its related pathways are RET signaling and ErbB signaling pathway. 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 , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBEGF Gene

Genomics for HBEGF Gene

Regulatory Elements for HBEGF Gene

Enhancers for HBEGF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G140257 2.1 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +86.5 86494 5.5 CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 NFYC PFDN1 HBEGF APBB3 CD14 ENSG00000253965 SLC4A9 TMCO6 SRA1 CYSTM1 ANKHD1
GH05G140321 1.9 FANTOM5 Ensembl ENCODE dbSUPER 19.6 +23.1 23069 4.3 FOXA2 PKNOX1 SIN3A ARID4B ZNF48 ZNF121 ZNF207 FOS NFYC MXD4 PFDN1 HBEGF CD14 APBB3 CYSTM1 EIF4EBP3 SRA1 ANKHD1
GH05G140309 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.6 +34.6 34622 4.7 HDGF PKNOX1 ATF1 CREB3L1 AGO1 ZNF2 ZNF766 GLIS2 GATA2 ZNF143 PFDN1 HBEGF ENSG00000253965 SLC4A9 CYSTM1 APBB3
GH05G140250 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +94.1 94109 4.6 HDGF ATF1 FOXA2 PKNOX1 ARID4B SIN3A ZNF2 GATA2 ZNF143 ZNF207 PFDN1 APBB3 CD14 HBEGF PURA SRA1 ANKHD1 SLC35A4 EIF4EBP3 IK
GH05G140214 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +126.3 126278 11.2 PKNOX1 CREB3L1 ARNT SIN3A FEZF1 YY1 ZNF766 FOS JUNB REST PFDN1 CYSTM1 HBEGF PCDHA7 SRA1 ANKHD1 ENSG00000250069 PIR37389
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HBEGF on UCSC Golden Path with GeneCards custom track

Promoters for HBEGF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187781 231 1601 PKNOX1 SIN3A ARID4B ZNF2 ZNF48 GLIS2 FOS ZNF263 SP3 TSHZ1

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

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 isoforms=37, posLast=3838, posLast=4444, isoforms=47, posLast=7575, isoforms=77, and posLast=8585
  • Modification sites at PhosphoSitePlus

Other Protein References for HBEGF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for HBEGF

Protein Products

Assay 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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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 --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005154 epidermal growth factor receptor binding TAS,IBA --
GO:0008083 growth factor activity IDA,IEA 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:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HBEGF

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBEGF gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2
cytoskeleton 1
peroxisome 1
cytosol 1
lysosome 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 & Interactions for HBEGF Gene

SuperPathways for HBEGF Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 Signaling by ERBB2
4 GAB1 signalosome
5 ErbB signaling pathway
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:0007165 signal transduction TAS 1840698
GO:0007173 epidermal growth factor receptor signaling pathway IMP 17655843
GO:0007517 muscle organ development TAS 8347598
GO:0008016 regulation of heart contraction IEA --
genes like me logo Genes that share ontologies with HBEGF: view

Drugs & Compounds for HBEGF Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist 848,265

(42) 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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for HBEGF Gene

NURSA nuclear receptor signaling pathways regulating expression of HBEGF Gene:

HBEGF

SOURCE GeneReport for Unigene cluster for HBEGF Gene:

Hs.799

Evidence on tissue expression from TISSUES for HBEGF Gene

  • Eye(4.3)
  • Lung(2.9)
  • Muscle(2.8)
  • Heart(2.6)
  • Intestine(2.6)
  • Nervous system(2.5)
  • Kidney(2.4)
  • Liver(2.3)
  • Skin(2.2)
  • Blood(2.1)
  • Bone marrow(2.1)
  • Stomach(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with HBEGF: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia HBEGF 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia HBEGF 34 35
  • 89.42 (n)
cow
(Bos Taurus)
Mammalia HBEGF 34 35
  • 89.26 (n)
rat
(Rattus norvegicus)
Mammalia Hbegf 34
  • 82.85 (n)
mouse
(Mus musculus)
Mammalia Hbegf 34 16 35
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia HBEGF 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HBEGF 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves HBEGF 34 35
  • 70.5 (n)
lizard
(Anolis carolinensis)
Reptilia HBEGF 35
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hbegfa 35
  • 39 (a)
OneToMany
hbegfb 35
  • 31 (a)
OneToMany
Species where no ortholog for HBEGF was found in the sources mined by GeneCards:
  • 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
rs1000131839 -- 140,333,966(+) GGAGC(A/T)TATGG utr-variant-3-prime
rs1000239516 -- 140,340,714(+) AGAGA(C/T)CTCTA intron-variant
rs1001034570 -- 140,344,807(+) GGACA(A/G)GGAGC intron-variant
rs1001208670 -- 140,344,685(+) AAGGT(A/G)ATACA intron-variant
rs1001323275 -- 140,344,401(+) AACTC(C/T)TCTGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1020011 CNV gain 25217958
nsv509090 CNV insertion 20534489
nsv830507 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
HBEGF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBEGF

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

Disorders for HBEGF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
diphtheria
  • corynebacterium infection
urinary tract obstruction
  • obstructive uropathy
perinatal necrotizing enterocolitis
  • enterocolitis necrotizing
interstitial cystitis
  • ulcerative cystitis
skin atrophy
  • atrophic condition of skin
- 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 22 64
  2. 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 22 64
  3. 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 22 64
  4. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for HBEGF Gene

  • Addgene plasmids for HBEGF

Sources for HBEGF Gene

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