Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1839
Gene name Gene Name - the full gene name approved by the HGNC.
Heparin binding EGF like growth factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HBEGF
Synonyms (NCBI Gene) Gene synonyms aliases
DTR, DTS, DTSF, HEGFL
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005891 hsa-miR-194-5p Luciferase reporter assay, qRT-PCR, Western blot 20979124
MIRT005891 hsa-miR-194-5p Luciferase reporter assay, qRT-PCR, Western blot 20979124
MIRT006659 hsa-miR-132-3p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21853268
MIRT006659 hsa-miR-132-3p Luciferase reporter assay 22310291
MIRT006659 hsa-miR-132-3p Luciferase reporter assay 22310291
Transcription factors
Transcription factor Regulation Reference
HIF1A Activation 22641673
MYOD1 Activation 22641673
NFKB1 Activation 22641673
RELA Activation 22641673
SNAI1 Activation 22641673
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0005154 Function Epidermal growth factor receptor binding IBA 21873635
GO:0005515 Function Protein binding IPI 9135143, 28988771, 32814053
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
126150 3059 ENSG00000113070
Protein
UniProt ID 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   Reactome
  Endocrine resistance
ErbB signaling pathway
GnRH signaling pathway
Estrogen signaling pathway
Parathyroid hormone synthesis, secretion and action
Epithelial cell signaling in Helicobacter pylori infection
Coronavirus disease - COVID-19
Proteoglycans in cancer
Bladder cancer
  Signaling by ERBB2
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PI3K events in ERBB4 signaling
SHC1 events in ERBB4 signaling
PIP3 activates AKT signaling
Signaling by EGFR
GRB2 events in EGFR signaling
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19565504
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
28416822
Epilepsy Epilepsy, Tonic-Clonic, Familial, Epilepsy, Tonic-Clonic, Symptomatic rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
16023256
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
15723263
Unknown
Disease term Disease name Evidence References Source
Endometriosis Endometriosis 20864642 ClinVar
Atrial Fibrillation Atrial Fibrillation GWAS
Dementia Dementia GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Associate 23907942
Adenocarcinoma Associate 26683690
Antiphospholipid Syndrome Inhibit 20131286
Arthritis Psoriatic Associate 32415989
Asthma Associate 23517395
Atherosclerosis Associate 1577791, 8302833
Breast Neoplasms Associate 17962208
Calcinosis Cutis Associate 10735511
Carcinoma Associate 15274392, 23917679
Carcinoma Adenoid Cystic Associate 32386517