• Gene id: 1839

Gene Summary

• Gene Symbol: HBEGF   Gene   UCSC   Ensembl
• Aliases: DTR, DTS, DTSF, HEGFL
• Gene name: heparin binding EGF like growth factor
• Alternate names: proheparin-binding EGF-like growth factor, diphtheria toxin receptor (heparin-binding EGF-like growth factor), diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor), heparin-binding epidermal growth factor,
• Gene location: 5q31.3 (140346602: 140332842)     Exons: 6     NC_000005.10
• OMIM: 126150

Protein Summary

• Protein general information: Q99075  
  • Name: Proheparin binding EGF like growth factor [Cleaved into: Heparin binding EGF like growth factor (HB EGF) (HBEGF) (Diphtheria toxin receptor) (DT R)]
  • Length: 208  
  • Mass: 23067
• Sequence:

  MKLLPSVVLKLFLAAVLSALVTGESLERLRRGLAAGTSNPDPPTVSTDQLLPLGGGRDRKVRDLQEADLDLLRVT
  LSSKPQALATPNKEEHGKRKKKGKGLGKKRDPCLRKYKDFCIHGECKYVKELRAPSCICHPGYHGERCHGLSLPV
  ENRLYTYDHTTILAVVAVVLSSVCLLVIVGLLMFRYHRRGGYDVENEEKVKLGMTNSH

• Structural information:
  • Protein Domains: (104..14-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"-)
  • Interpro: IPR013032  IPR000742  
  • Prosite: PS00022 PS01186 PS50026
  • PDB: 1XDT 2M8S
  • PDBsum: 1XDT 2M8S
  • DIP: 114
  • STRING: ENSP00000230990
• Other Databases: GeneCards:  HBEGF  Malacards:  HBEGF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045741	positive regulation of epidermal growth factor-activated receptor activity	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007173	epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0008083	growth factor activity	IBA	molecular function
GO:0008201	heparin binding	IBA	molecular function
GO:0008284	positive regulation of cell population proliferation	IBA	biological process
GO:0005154	epidermal growth factor receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005154	epidermal growth factor receptor binding	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:2000145	regulation of cell motility	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005154	epidermal growth factor receptor binding	IEA	molecular function
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0035313	wound healing, spreading of epidermal cells	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005154	epidermal growth factor receptor binding	IEA	molecular function
GO:0051545	negative regulation of elastin biosynthetic process	IEA	biological process
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0051549	positive regulation of keratinocyte migration	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0090303	positive regulation of wound healing	IMP	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0007173	epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008083	growth factor activity	IDA	molecular function
GO:0009986	cell surface	NAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0060326	cell chemotaxis	IMP	biological process
GO:0008201	heparin binding	IMP	molecular function
GO:0005615	extracellular space	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05205	Proteoglycans in cancer
hsa04915	Estrogen signaling pathway
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04912	GnRH signaling pathway
hsa04012	ErbB signaling pathway
hsa01522	Endocrine resistance
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05219	Bladder cancer
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Female infertility	INFBASE: 23907942
Implantation failure	INFBASE: 18579857
Unexplained infertility	INFBASE: 18579857
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospadias	MIK: 24778562
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
24778562	Hypospadias			13 (5 controls, 8 cases)	Male infertility	Microarray