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Gene Gene information from NCBI Gene database.
Entrez ID 1839
Gene name Heparin binding EGF like growth factor
Gene symbol HBEGF
Synonyms (NCBI Gene)
DTRDTSDTSFHEGFL
Chromosome 5
Chromosome location 5q31.3
miRNA miRNA information provided by mirtarbase database.
124 Show/Hide all (124)
miRTarBase ID miRNA Experiments Reference
MIRT005891 hsa-miR-194-5p Luciferase reporter assayqRT-PCRWestern blot 20979124
MIRT005891 hsa-miR-194-5p Luciferase reporter assayqRT-PCRWestern blot 20979124
MIRT006659 hsa-miR-132-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853268
MIRT006659 hsa-miR-132-3p Luciferase reporter assay 22310291
MIRT006659 hsa-miR-132-3p Luciferase reporter assay 22310291
Transcription factors Transcription factors information provided by TRRUST V2 database.
9 Show/Hide all (9)
Transcription factor Regulation Reference
HIF1A Activation 22641673
MYOD1 Activation 22641673
NFKB1 Activation 22641673
RELA Activation 22641673
SNAI1 Activation 22641673
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54 Show/Hide all (54)
GO ID Ontology Definition Evidence Reference
GO:0005154 Function Epidermal growth factor receptor binding IBA
GO:0005154 Function Epidermal growth factor receptor binding IEA
GO:0005154 Function Epidermal growth factor receptor binding TAS 10749879
GO:0005515 Function Protein binding IPI 9135143, 28988771, 32814053
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
126150 3059 ENSG00000113070
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99075
Protein name Proheparin-binding EGF-like growth factor [Cleaved into: Heparin-binding EGF-like growth factor (HB-EGF) (HBEGF) (Diphtheria toxin receptor) (DT-R)]
Protein 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. I
PDB 1XDT , 2M8S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 108 → 142 EGF-like domain Domain
Sequence
MKLLPSVVLKLFLAAVLSALVTGESLERLRRGLAAGTSNPDPPTVSTDQLLPLGGGRDRK
VRDLQEADLDLLRVTLSSKPQALATPNKEEHGKRKKKGKGLGKKRDPCLRKYKDFCIHGE
CKYVKELRAPSCICHPGYHGER
CHGLSLPVENRLYTYDHTTILAVVAVVLSSVCLLVIVG
LLMFRYHRRGGYDVENEEKVKLGMTNSH
Sequence length 208
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Endocrine resistance Signaling by ERBB2
ErbB signaling pathway Signaling by ERBB4
GnRH signaling pathway SHC1 events in ERBB2 signaling
Estrogen signaling pathway PI3K events in ERBB4 signaling
Parathyroid hormone synthesis, secretion and action SHC1 events in ERBB4 signaling
Epithelial cell signaling in Helicobacter pylori infection PIP3 activates AKT signaling
Coronavirus disease - COVID-19 Signaling by EGFR
Proteoglycans in cancer GRB2 events in EGFR signaling
Bladder cancer GAB1 signalosome
  SHC1 events in EGFR signaling
  EGFR downregulation
  GRB2 events in ERBB2 signaling
  PI3K events in ERBB2 signaling
  EGFR interacts with phospholipase C-gamma
  EGFR Transactivation by Gastrin
  Constitutive Signaling by Aberrant PI3K in Cancer
  Uptake and function of diphtheria toxin
  Inhibition of Signaling by Overexpressed EGFR
  RAF/MAP kinase cascade
  ERBB2 Regulates Cell Motility
  PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
  ERBB2 Activates PTK6 Signaling
  Cargo recognition for clathrin-mediated endocytosis
  Clathrin-mediated endocytosis
  PTK6 promotes HIF1A stabilization
  Downregulation of ERBB2 signaling
  Extra-nuclear estrogen signaling
  Estrogen-dependent nuclear events downstream of ESR-membrane signaling
  Signaling by ERBB2 KD Mutants
  Signaling by ERBB2 TMD/JMD mutants
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (19)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 25778476, 28183528
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE — CTD 19565504
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog 28416822, 36653681, 40050429, 40645996
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (159)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 7635938
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26683690
★★★★★
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 20131286 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 29550070, 30738642
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 14593587, 30738642
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 32415989 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 23517395 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 14593587, 30738642
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 1577791, 8302833 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis LHGDN 18463770
★★★★★
★☆☆☆☆
Found in Text Mining only