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
  • Proheparin-Binding EGF-Like Growth Factor 3 4
  • Heparin-Binding Epidermal Growth Factor 2 3
  • HEGFL 3 4
  • DTR 3 4
  • DTS 3 4
  • Heparin-Binding EGF-Like Growth Factor 2
  • HBEGF 5
  • 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 Perinatal Necrotizing Enterocolitis. Among its related pathways are Signaling by PTK6 and RET signaling. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for HBEGF Gene

Genomics for HBEGF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HBEGF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBEGF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HBEGF

Top Transcription factor binding sites by QIAGEN in the HBEGF gene promoter:
  • CP2
  • CREB
  • ER-alpha
  • FOXC1
  • NF-kappaB1
  • Nkx2-5
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5A

Genomic Locations for HBEGF Gene

Genomic Locations for HBEGF Gene
chr5:140,332,843-140,346,603
(GRCh38/hg38)
Size:
13,761 bases
Orientation:
Minus strand
chr5:139,712,428-139,726,216
(GRCh37/hg19)
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

  • 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.
  • O-glycosylated with core 1 or possibly core 8 glycans. Thr-47 is a minor glycosylation site compared to Thr-44.
  • Glycosylation at Thr37, Ser38, Thr44, Thr47, Thr75, Ser77, Ser78, and Thr85
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • HBEGF_HUMAN (809)

Other Protein References for HBEGF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for HBEGF
  • Boster Bio Antibodies for HBEGF

No data available for DME Specific Peptides for HBEGF Gene

Domains & Families for HBEGF Gene

Gene Families for HBEGF Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for HBEGF Gene

InterPro:
Blocks:
  • Type I EGF
  • Type I EGF signature
ProtoNet:

Suggested Antigen Peptide Sequences for HBEGF Gene

GenScript: Design optimal peptide antigens:
  • Proheparin-binding EGF-like growth factor (HBEGF_HUMAN)
  • Heparin-binding epidermal growth factor (Q14487_HUMAN)
  • Short form heparin-binding EGF-like growth factor (Q1HK36_HUMAN)
genes like me logo Genes that share domains with HBEGF: view

No data available for Graphical View of Domain Structure 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

Phenotypes From GWAS Catalog 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,IBA 21873635
GO:0005515 protein binding IPI 9135143
GO:0008083 growth factor activity IBA,IDA 12070119
GO:0008201 heparin binding IBA,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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
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 IBA,TAS 15389565
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA,TAS 15389565
GO:0009986 cell surface IDA,NAS 15289334
genes like me logo Genes that share ontologies with HBEGF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HBEGF Gene

Pathways & Interactions for HBEGF Gene

PathCards logo

SuperPathways for HBEGF Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.62
.61
.60
.57
3 Signaling by ERBB2
4 GAB1 signalosome
5 ErbB signaling pathway
genes like me logo Genes that share pathways with HBEGF: view

Pathways by source for HBEGF Gene

9 GeneGo (Thomson Reuters) pathways for HBEGF Gene
  • Cell adhesion_ECM remodeling
  • Development Alpha-2 adrenergic receptor activation of ERK
  • Development Angiotensin activation of ERK
  • Development Dopamine D2 receptor transactivation of EGFR
  • Development EGFR signaling pathway
1 R&D Systems pathway for HBEGF Gene
26 Qiagen pathways for HBEGF Gene
  • Actin-Based Motility by Rho Family GTPases
  • Activation of PKC through GPCR
  • Antioxidant Action of Vitamin-C
  • Apoptotic Pathways in Synovial Fibroblasts
  • Breast Cancer Regulation by Stathmin1

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 --
GO:0007173 epidermal growth factor receptor signaling pathway IEA,TAS --
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 1058

(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

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for HBEGF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for HBEGF Gene



Protein tissue co-expression partners for HBEGF Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HBEGF

SOURCE GeneReport for Unigene cluster for HBEGF Gene:

Hs.799

Evidence on tissue expression from TISSUES for HBEGF Gene

  • Eye(4.4)
  • Lung(3.2)
  • Heart(3.2)
  • Nervous system(3.2)
  • Muscle(3.2)
  • Intestine(3.1)
  • Bone marrow(3)
  • Liver(3)
  • Blood(2.9)
  • Kidney(2.8)
  • Spleen(2.8)
  • Skin(2.7)
  • Lymph node(2.7)
  • Stomach(2.6)
  • Pancreas(2.4)
  • Gall bladder(2.2)
  • Thyroid gland(2.1)
  • Bone(2.1)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with HBEGF: view

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 30 31
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HBEGF 30 31
  • 89.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HBEGF 30 31
  • 89.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hbegf 30
  • 82.85 (n)
Mouse
(Mus musculus)
Mammalia Hbegf 30 17 31
  • 82.53 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HBEGF 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HBEGF 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HBEGF 30 31
  • 70.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HBEGF 31
  • 52 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii hbegfa 31
  • 39 (a)
OneToMany
hbegfb 31
  • 31 (a)
OneToMany
Species where no ortholog for HBEGF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for HBEGF: view image

Paralogs for HBEGF Gene

Paralogs for HBEGF Gene

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

Variants for HBEGF Gene

Additional dbSNP identifiers (rs#s) for HBEGF Gene

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)

Additional Variant Information for HBEGF Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HBEGF Gene

Disorders for HBEGF Gene

MalaCards: The human disease database

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

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

Additional Disease Information for HBEGF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (The EMBO journal 1997) 3 4 23
  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 (The Journal of biological chemistry 1995) 3 4 23
  3. Mouse chromosomal location of three EGF receptor ligands: amphiregulin (Areg), betacellulin (Btc), and heparin-binding EGF (Hegfl). (PMID: 7590736) Pathak BG … Lee DC (Genomics 1995) 2 3 23
  4. Structure of heparin-binding EGF-like growth factor. Multiple forms, primary structure, and glycosylation of the mature protein. (PMID: 1556128) Higashiyama S … Klagsbrun M (The Journal of biological chemistry 1992) 3 4 23
  5. A heparin-binding growth factor secreted by macrophage-like cells that is related to EGF. (PMID: 1840698) Higashiyama S … Klagsbrun M (Science (New York, N.Y.) 1991) 3 4 23

Products for HBEGF Gene

  • Addgene plasmids for HBEGF
  • Boster Bio Antibodies for HBEGF
  • Boster Bio ELISA Kits for HBEGF

Sources for HBEGF Gene