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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HBEGF Gene

protein-coding GIFtS: 64
GCID: GC05M139694

heparin-binding EGF-like growth factor

(Previous name: diphtheria toxin receptor (heparin-binding epidermal growth...)
(Previous symbols: HEGFL, DTS, DTR)

Explore 114 diseases affiliated with
HBEGF via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Heparin-Binding EGF-Like Growth Factor¹ ²		DTSF² ⁵
DTR¹ ² ³ ⁵		Diphtheria Toxin Receptor (Heparin-Binding EGF-Like Growth Factor)²
HEGFL¹ ² ³ ⁵		Heparin-Binding Epidermal Growth Factor²
DTS¹ ² ³		Proheparin-Binding EGF-Like Growth Factor²
Diphtheria Toxin Receptor (Heparin-Binding Epidermal Growth Factor-Like Growth Factor)¹ ²

External Ids:	HGNC: 3059¹	Entrez Gene: 1839²	Ensembl: ENSG00000113070⁷	OMIM: 126150⁵	UniProtKB: Q99075³

Export aliases for HBEGF gene to outside databases

Previous GC identifer: GC05M134858

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: HBEGF_HUMAN, Q99075

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

Gene Wiki entry for HBEGF (Heparin-binding EGF-like growth factor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HBEGF gene promoter:
ER-alpha STAT1 STAT1beta STAT5A Nkx2-5 STAT1alpha CREB FOXC1 CP2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HBEGF promoter sequence

Search SABiosciences Chromatin IP Primers for HBEGF

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBEGF

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q23 Ensembl cytogenetic band: 5q31.3 HGNC cytogenetic band: 5q23

HBEGF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBEGF gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M139694: view genomic region (about GC identifiers)

Start:	139,712,428 bp from pter	End:	139,726,216 bp from pter
Size:	13,789 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HBEGF_HUMAN, Q99075 (See protein sequence)

Recommended Name: Proheparin-binding EGF-like growth factor precursor

Size: 208 amino acids; 23067 Da

Subunit: Interacts with FBLN1 (By similarity). Interacts with EGFR and ERBB4

Subcellular location: 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

Subcellular location: Proheparin-binding EGF-like growth factor: Cell membrane; Single-pass type I membrane protein

1 PDB 3D structure from and Proteopedia for HBEGF:

1XDT (3D)

Secondary accessions: B2R821

Explore the universe of human proteins at neXtProt for HBEGF: NX_Q99075

Post-translational modifications:

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 active¹

O-glycosylated with core 1 or possibly core 8 glycans. Thr-47 is a minor glycosylation site compared to Thr-44¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99075

HBEGF Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001936.1

ENSEMBL proteins:

ENSP00000230990 ENSP00000425696

Reactome Protein details: Q99075
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
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	Uscn Proteins for HBEGF

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	TAS	15389565
GO:0005887	integral to plasma membrane	TAS	15389565
GO:0009986	cell surface	NAS	15289334

HBEGF for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for HBEGF

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HBEGF for domains About GeneDecksing

3 InterPro domains/families:

IPR000742 EG-like_dom

IPR015497 EGF_rcpt_ligand

IPR013032 EGF-like_CS

Graphical View of Domain Structure for InterPro Entry Q99075

ProtoNet protein and cluster: Q99075

2 Blocks protein families:

IPB001336 Type I EGF signature

IPB006210 Type I EGF

UniProtKB/Swiss-Prot: HBEGF_HUMAN, Q99075

Similarity: Contains 1 EGF-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HBEGF_HUMAN, Q99075

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

Summary:

During embryonic development, HBEGF as signaling molecule

affects the following cells: Endocardial Cushion Cells in Atrioventricular Endocardial Cushion

miRNA Products:		miRTarBase miRNAs that target HBEGF: hsa-mir-194 (MIRT005891)

		OriGene 3'-UTR Clone: HBEGF Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HBEGF
		8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate HBEGF (see all 66):
		hsa-miR-548j hsa-miR-4254 hsa-miR-128 hsa-miR-376a* hsa-miR-489 hsa-miR-548a-5p hsa-miR-376c hsa-miR-3622a-5p

		SwitchGear 3'UTR luciferase reporter plasmid: HBEGF 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HBEGF (see all 7) OriGene shRNA RFP: HBEGF OriGene siRNA: HBEGF
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBEGF

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005154	epidermal growth factor receptor binding	IEA	--
GO:0008083	growth factor activity	IEA	--
GO:0008201	heparin binding	IMP	8300582
GO:0043499	eukaryotic cell surface binding	IDA	12070119

HBEGF for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for HBEGF:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for HBEGF: Hbegf^tm3Mek Hbegf^tm1Dcl
11 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Hbegf):

behavior/neurological	cardiovascular system	growth/size	homeostasis/metabolism	integument
mortality/aging	muscle	nervous system	normal	respiratory system
skeleton

HBEGF for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/25 super-pathways (see all 25) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by FGFR

8/12 pathways (see all 12)
Signaling by FGFR	1.00	DAP12 signaling	0.83
Downstream signaling of activated FGFR	0.92	Signaling by EGFR in Cancer	0.83
Signaling by FGFR in disease	0.91	DAP12 interactions	0.76
Signaling by ERBB2	0.89	Signaling by PDGF	0.72

PIP3 activates AKT signaling

8/10 pathways (see all 10)
PIP3 activates AKT signaling	1.00	PI3K/AKT activation	0.97
PI3K/AKT Signaling in Cancer	1.00	GAB1 signalosome	0.96
PI3K events in ERBB2 signaling	1.00	Constitutive PI3K/AKT Signaling in Cancer	0.88
PI3K events in ERBB4 signaling	1.00	Signaling by SCF-KIT	0.72

Development_Dopamine D2 receptor transactivation of EGFR

	Development_Dopamine D2 receptor transactivation of EGFR	1.00			Development_Alpha-2 adrenergic receptor activation of ERK	0.66
	Development Dopamine D2 receptor transactivation of EGFR	1.00			Development Alpha-2 adrenergic receptor activation of ERK	0.66

SHC1 events in ERBB2 signaling

	SHC1 events in ERBB2 signaling	1.00			SHC1 events in ERBB4 signaling	0.84
	GRB2 events in ERBB2 signaling	0.92			ErbB receptor signaling network	0.34

Immune System

	Immune System	1.00			Innate Immune System	0.46
	Adaptive Immune System	0.59

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 EMD Millipore Pathways for HBEGF (see all 9)

	Development Alpha-2 adrenergic receptor activation of ERK
	Development Angiotensin activation of ERK
	Development EGFR signaling pathway
	Translation Non-genomic (rapid) action of Androgen Receptor
	Development Dopamine D2 receptor transactivation of EGFR

5/9 GeneGo (Thomson Reuters) Pathways for HBEGF (see all 9)

	Development ERBB-family signaling
	Neurophysiological process Receptor-mediated axon growth repulsion
	Development Endothelin-1/EDNRA transactivation of EGFR
	Development Angiotensin activation of ERK
	Development EGFR signaling pathway

5 BioSystems Pathways for HBEGF

	ErbB signaling pathway
	Plasma membrane estrogen receptor signaling
	LPA receptor mediated events
	ErbB receptor signaling network
	ErbB4 signaling events

5/37 Reactome Pathways for HBEGF (see all 37)

	Signaling by EGFR in Cancer
	EGFR Transactivation by Gastrin
	Mature HBEGF binds to EGFR, triggering dimerisation and autophosphorylation of the receptor
	Downstream signal transduction
	Signal Transduction

1 PharmGKB Pathway for HBEGF

EGFR Inhibitor Pathway, Pharmacodynamics

3 Kegg Pathways (Kegg details for HBEGF):

	ErbB signaling pathway
	GnRH signaling pathway
	Epithelial cell signaling in Helicobacter pylori infection

HBEGF for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HBEGF

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/35 Interacting proteins for HBEGF (Q99075^{2, 3} ENSP00000230990⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
S100A4	P26447²^,³, ENSP00000346294⁴	MINT-7256494 I2D: score=1 STRING: ENSP00000346294
MMP7	P09237³, ENSP00000260227⁴	I2D: score=3 STRING: ENSP00000260227
NRD1	O43847³, ENSP00000346890⁴	I2D: score=3 STRING: ENSP00000346890
CD82	P27701³, ENSP00000227155⁴	I2D: score=2 STRING: ENSP00000227155
LTBP3	Q9NS15³, ENSP00000301873⁴	I2D: score=1 STRING: ENSP00000301873

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	TAS	1840698
GO:0007173	epidermal growth factor receptor signaling pathway	IMP	17655843
GO:0007517	muscle organ development	TAS	8347598
GO:0008016	regulation of heart contraction	IEA	--
GO:0016477	cell migration	--	--

HBEGF for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HBEGF for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HBEGF

1 HMDB Compound for HBEGF About this table

Compound	Synonyms	CAS #	PubMed Ids
Heparin	Arteven (see all 17)	9005-49-6	--

10/83 Novoseek chemical compound relationships for HBEGF gene (see all 83) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ag 1478	80.8	22	14985295 (2), 11159045 (2), 12164862 (1), 16737974 (1) (see all 13)
heparin	79.4	468	15331606 (8), 12236483 (7), 7706382 (6), 1306684 (5) (see all 99)
diphtheria toxin	71.7	6	7646457 (3), 8379922 (1)
pd153035	70.2	5	11169460 (3), 9276746 (1), 15562758 (1)
heparan sulfate	68.2	40	8578521 (1), 10037743 (1), 9438425 (1), 11320054 (1) (see all 21)
hcec	66.1	9	19797203 (1), 18495812 (1), 15277479 (1), 16799022 (1)
tyrosine	59.3	47	9334263 (2), 11798972 (2), 9110152 (1), 10579352 (1) (see all 36)
chondroitin sulfate	50.9	8	1306684 (1), 16175577 (1), 11421350 (1), 12634322 (1) (see all 6)
vegf	50.8	54	9468491 (5), 10735511 (5), 15988409 (4), 17050278 (3) (see all 27)
heparinoids	48.2	2	7685831 (1), 11115590 (1)

Search CenterWatch for drugs/clinical trials and news about HBEGF

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HBEGF gene:

NM_001945.2

Unigene Cluster for HBEGF:

Heparin-binding EGF-like growth factor

Hs.799 [show with all ESTs]

Unigene Representative Sequence: NM_001945

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000230990(uc003lfi.3 uc010jfj.3) ENST00000482211 ENST00000498452

ENST00000507104

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		hsa-miR-548j hsa-miR-4254 hsa-miR-128 hsa-miR-376a* hsa-miR-489 hsa-miR-548a-5p hsa-miR-376c hsa-miR-3622a-5p

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Additional cDNA sequence:

AK222688.1 AK307310.1 AK313202.1 BC033097.1 M60278.1

4 DOTS entries:

DT.117292 DT.86851568 DT.99971739 DT.95270771

24/154 AceView cDNA sequences (see all 154):

BI910684 CB159853 C04884 BF594452 D55114 AI129680 BM762311 CA433350

CA435723 AI052201 NM_001945 BQ720838 W39595 M60278 AA343828 BQ416757

H46786 AI697686 BC033097 AA425157 BF592951 BM761883 AA410374 BQ719316

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HBEGF expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTCCTTTCTG

About this image

HBEGF expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Endothelium

Microvessels

Pericytes

Selective marker (cell-identifying gene)

Pericytes

Umbilical Cord

Umbilical Veins

Umbilical Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 8 LifeMap Cells

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Line H7 (WA07) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See HBEGF Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HBEGF

SOURCE GeneReport for Unigene cluster: Hs.799

SABiosciences Expression via Pathway-Focused PCR Arrays including HBEGF:

Notch Signaling Targets in human mouse rat

Growth Factors in human mouse rat

Atherosclerosis in human mouse rat

Wound Healing in human mouse rat

EGF / PDGF Signaling Pathway in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBEGF

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for HBEGF gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hbegf^{1 , 5}	heparin-binding EGF-like growth factor^{1, 5}	82.53(n)¹ 80.77(a)¹		18 (19.46 cM)⁵ 15200¹ NM_010415.2¹ NP_034545.1¹ 36504929⁵
chicken (Gallus gallus)	Aves	HBEGF¹	heparin-binding EGF-like growth factor	70.5(n) 72.66(a)		395654 NM_204849.1 NP_990180.1
lizard (Anolis carolinensis)	Reptilia	HBEGF⁶	--	67(a)	1 ↔ 1	4(78166741-78171714)
zebrafish (Danio rerio)	Actinopterygii	AL924188.1²	--	76.11(n)		AL924188.1

ENSEMBL Gene Tree for HBEGF (if available)
TreeFam Gene Tree for HBEGF (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HBEGF gene

AREGB² AREG²

HBEGF for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181259621^1,2		--	139711965(+)	`GCTGAC/TGGATT`	1	--	int¹		0	--	--	--	--
rs11465461^1,2	H	--	139712023(-)	`AGGCAT/CTGCTT`	1	--	int¹		7		NA EU NS EA	504
rs138751385^1,2		--	139712047(+)	`GCATAG/TGAGTA`	1	--	int¹		0	--	--	--	--
rs140542342^1,2		--	139712093(+)	`GATATC/GTTCCC`	1	--	int¹		0	--	--	--	--
rs186240385^1,2		--	139712103(+)	`CTGATG/TACAGC`	1	--	int¹		0	--	--	--	--
rs150460027^1,2		--	139712121(+)	`ACATGC/TTGTGC`	1	--	int¹		0	--	--	--	--
rs2282802^1,2	C,F,A,H,	--	139712239(-)	`CTTGCT/CTGAGG`	1	--	int¹		20		NS EA NA EU WA CSA	1049
rs189109060^1,2		--	139712404(+)	`TTCCCA/GGTTAA`	1	--	int¹		0	--	--	--	--
rs7268^1,2	C,F,A,H,	--	139712550(-)	`TGAAGG/TTATGC`	1	--	ut3¹		44		NS MN EA NA EU WA CSA	4083
rs4150242^1,2	C,F,H,	--	139712688(-)	`TTAGCA/CAAGCA`	1	--	ut3¹		17		NS NA EU EA WA	1668

HapMap Linkage Disequilibrium report for HBEGF (139712428 - 139726216 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HBEGF: --
Human Gene Mutation Database (HGMD): HBEGF

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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HBEGF for disorders           About GeneDecksing

OMIM gene information: 126150    OMIM disorders: --

20/114 diseases for HBEGF (see all 114):    About MalaCards

diphtheria perinatal necrotizing enterocolitis alcohol withdrawal delirium exposure keratitis

interstitial cystitis fibrous histiocytoma urinary tract obstruction malignant fibrous histiocytoma

pre-eclampsia vernal keratoconjunctivitis cystitis proliferative vitreoretinopathy

gastrointestinal stromal tumor atrophic gastritis squamous cell carcinoma bronchiolitis obliterans

warthin tumor histiocytoma ischemic heart disease oral squamous cell carcinoma

5 diseases from the University of Copenhagen DISEASES database for HBEGF:

Diphtheria Interstitial cystitis Chronic interstitial cystitis Perinatal necrotizing enterocolitis

Cancer

10/90 Novoseek disease relationships for HBEGF gene (see all 90) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
diphtheria	79.9	138	1939100 (3), 7980519 (3), 7622504 (3), 10547351 (3) (see all 68)
cystitis bacterial	54.6	3	9334654 (2), 11378043 (1)
bladder diseases	48	1	9334654 (1)
tumors	44.4	122	20190463 (6), 1279186 (4), 15289334 (4), 15313912 (4) (see all 60)
cancer	39.3	59	20190463 (5), 20139904 (3), 18023415 (2), 12686563 (2) (see all 34)
pancreatic cancer	38.5	26	8060360 (5), 15817123 (3), 10505759 (2), 20208558 (2) (see all 8)
gastric cancer	37.4	24	8621250 (4), 19218109 (3), 11920609 (2), 14764442 (1) (see all 10)
carcinoma embryonal	36.6	7	11169062 (1), 19152444 (1), 10902971 (1), 12507292 (1) (see all 7)
hyperplasia	34.5	16	9858142 (3), 16470170 (2), 15866332 (1), 9426203 (1) (see all 7)
enterocolitis necrotizing	32.5	9	19127210 (2), 14765365 (1), 16084404 (1), 16364500 (1) (see all 6)

Human Genome Epidemiology (HuGE) Navigator: HBEGF (4 documents)

Export disorders for HBEGF gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for HBEGF gene, integrated from 9 sources (see all 822):
(articles sorted by number of sources associating them with HBEGF)

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Activation of HER4 by heparin-binding EGF-like growth factor stimulates chemotaxis but not proliferation. (PubMed id 9135143)^{1, 2, 9} Elenius K....Klagsbrun M. (1997)
Structure of heparin-binding EGF-like growth factor. Multiple forms, primary structure, and glycosylation of the mature protein. (PubMed id 1556128)^{1, 2, 9} Higashiyama S.... Klagsbrun M. (1992)
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. (PubMed id 7836353)^{1, 2, 9} Mitamura T.... Mekada E. (1995)
Mouse chromosomal location of three EGF receptor ligands: amphiregulin (Areg), betacellulin (Btc), and heparin-binding EGF (Hegfl). (PubMed id 7590736)^{1, 3, 9} Pathak B.G....Lee D.C. (1995)
A heparin-binding growth factor secreted by macrophage-like cells that is related to EGF. (PubMed id 1840698)^{1, 2, 9} Higashiyama S.... Klagsbrun M. (1991)
Crystal structure of the complex of diphtheria toxin with an extracellular fragment of its receptor. (PubMed id 9659904)^{1, 2, 9} Louie G.V.... Choe S. (1997)
The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)^{1, 2} Schmutz J.... Rubin E.M. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Dual source and target of heparin-binding EGF-like growth factor during the onset of implantation in the hamster. (PubMed id 12163414)^{1, 3} Wang X....Paria B.C. (2002)
Heparin-binding EGF-like growth factor, which acts as the diphtheria toxin receptor, forms a complex with membrane protein DRAP27/CD9, which up-regulates functional receptors and diphtheria toxin sensitivity. (PubMed id 8194524)^{1, 9} Iwamoto R....Mekada E. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1839	HGNC: 3059	AceView: DTR	Ensembl:ENSG00000113070	euGenes: HUgn1839
ECgene: HBEGF	Kegg: 1839	H-InvDB: HBEGF

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HBEGF	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for HBEGF	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/dtr/

Intellectual Property for HBEGF gene
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Patent Information for HBEGF gene:
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GeneCards and IP:
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heparin-binding EGF-like growth factor

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HBEGF Gene

heparin-binding EGF-like growth factor

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