HBEGF heparin binding EGF like growth factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: HBEGFprovided by HGNC
Official Full Name: heparin binding EGF like growth factorprovided by HGNC
Primary source: HGNC:HGNC:3059
See related: Ensembl:ENSG00000113070 MIM:126150; AllianceGenome:HGNC:3059
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DTR; DTS; DTSF; HEGFL
Summary: Enables growth factor activity; heparin binding activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of wound healing. Located in cell surface. Is active in extracellular space. Implicated in glomerulosclerosis and perinatal necrotizing enterocolitis. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in gall bladder (RPKM 39.1), esophagus (RPKM 22.6) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (140332843..140346603, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (140858275..140872035, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (139712428..139726188, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Multiple Functions of HB-EGF in Female Reproduction and Related Cancer: Molecular Mechanisms and Targeting Strategies.
Title: The Multiple Functions of HB-EGF in Female Reproduction and Related Cancer: Molecular Mechanisms and Targeting Strategies.
The astrocyte-produced growth factor HB-EGF limits autoimmune CNS pathology.
Title: The astrocyte-produced growth factor HB-EGF limits autoimmune CNS pathology.
Spinal cord repair is modulated by the neurogenic factor Hb-egf under direction of a regeneration-associated enhancer.
Title: Spinal cord repair is modulated by the neurogenic factor Hb-egf under direction of a regeneration-associated enhancer.
HBEGF-TNF induce a complex outer retinal pathology with photoreceptor cell extrusion in human organoids.
Title: HBEGF-TNF induce a complex outer retinal pathology with photoreceptor cell extrusion in human organoids.
microRNA-194 is increased in polycystic ovary syndrome granulosa cell and induce KGN cells apoptosis by direct targeting heparin-binding EGF-like growth factor.
Title: microRNA-194 is increased in polycystic ovary syndrome granulosa cell and induce KGN cells apoptosis by direct targeting heparin-binding EGF-like growth factor.
s-HBEGF/SIRT1 circuit-dictated crosstalk between vascular endothelial cells and keratinocytes mediates sorafenib-induced hand-foot skin reaction that can be reversed by nicotinamide.
Title: s-HBEGF/SIRT1 circuit-dictated crosstalk between vascular endothelial cells and keratinocytes mediates sorafenib-induced hand-foot skin reaction that can be reversed by nicotinamide.
Soluble Factors Involved in Cancer Cell-Macrophage Interaction Promote Breast Cancer Growth.
Title: Soluble Factors Involved in Cancer Cell-Macrophage Interaction Promote Breast Cancer Growth.
APP Binds to the EGFR Ligands HB-EGF and EGF, Acting Synergistically with EGF to Promote ERK Signaling and Neuritogenesis.
Title: APP Binds to the EGFR Ligands HB-EGF and EGF, Acting Synergistically with EGF to Promote ERK Signaling and Neuritogenesis.
Potentially functional variants of HBEGF and ITPR3 in GnRH signaling pathway genes predict survival of non-small cell lung cancer patients.
Title: Potentially functional variants of HBEGF and ITPR3 in GnRH signaling pathway genes predict survival of non-small cell lung cancer patients.
Role of Heparin-Binding Epidermal Growth Factor-Like Growth Factor in Oxidative Stress-Associated Metabolic Diseases.
Title: Role of Heparin-Binding Epidermal Growth Factor-Like Growth Factor in Oxidative Stress-Associated Metabolic Diseases.

Submit: New GeneRIF Correction See all GeneRIFs (164)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2374 (e-PCR)
- UniSTS:11342

STS-M60278 (e-PCR)
- UniSTS:79961

RH65265 (e-PCR)
- UniSTS:52603

RH93352 (e-PCR)
- UniSTS:88201

DTR_582 (e-PCR)
- UniSTS:277172

G10624 (e-PCR)
- UniSTS:49912

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables epidermal growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables heparin binding	IBA Inferred from Biological aspect of Ancestor more info
enables heparin binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane receptor protein tyrosine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ERBB2-EGFR signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in ERBB2-ERBB4 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of elastin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of keratinocyte migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart contraction	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in wound healing, spreading of epidermal cells	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	NAS Non-traceable Author Statement more info	PubMed
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: proheparin-binding EGF-like growth factor

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.