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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ENG Gene

protein-coding GIFtS: 66
GCID: GC09M130577

endoglin

(Previous name: Osler-Rendu-Weber syndrome 1 )
(Previous symbols: ORW1, ORW)

Explore 111 diseases affiliated with
ENG 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
Endoglin¹		CD105¹ ²
END¹ ² ³ ⁵		ORW1¹ ²
HHT1¹ ² ⁵		CD105 Antigen² ³
ORW¹ ² ⁵		Osler-Rendu-Weber Syndrome 1¹

External Ids:	HGNC: 3349¹	Entrez Gene: 2022²	Ensembl: ENSG00000106991⁷	OMIM: 131195⁵	UniProtKB: P17813³

Export aliases for ENG gene to outside databases

Previous GC identifers: GC09M121691 GC09M122223 GC09M124030 GC09M125953 GC09M127656 GC09M129617 GC09M100194

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

Entrez Gene summary for ENG:

This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This

protein is a component of the transforming growth factor beta receptor complex and it binds TGFB1 and TGFB3 with high

affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome

1, an autosomal dominant multisystemic vascular dysplasia. Alternatively spliced transcript variants encoding

different isoforms have been found for this gene. (provided by RefSeq, Sep 2008)

UniProtKB/Swiss-Prot: EGLN_HUMAN, P17813

Function: Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to

integrins and/or other RGD receptors

Gene Wiki entry for ENG (Endoglin)

(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_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ENG gene promoter:
AP-2alpha isoform 3 AP-1 AP-2alpha isoform 4 AP-2alpha isoform 2 AP-2alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ENG promoter sequence

Search SABiosciences Chromatin IP Primers for ENG

Epigenetics:

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

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

Entrez Gene cytogenetic band: 9q34.11 Ensembl cytogenetic band: 9q34.11 HGNC cytogenetic band: 9q34.11

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

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M130577: view genomic region (about GC identifiers)

Start:	130,577,291 bp from pter	End:	130,617,047 bp from pter
Size:	39,757 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: EGLN_HUMAN, P17813 (See protein sequence)

Recommended Name: Endoglin precursor

Size: 658 amino acids; 70578 Da

Subunit: Homodimer that forms a heteromeric complex with the signaling receptors for transforming growth factor-beta:

TGFBR1 and/or TGFBR2. It is able to bind TGF-beta 1, and 3 efficiently and TGF-beta 2 less efficiently. Interacts with

TCTEX1D4. Interacts with ARRB2

Subcellular location: Membrane; Single-pass type I membrane protein

Secondary accessions: Q14248 Q14926 Q5T9C0

Alternative splicing: 2 isoforms: P17813-1 P17813-2

Explore the universe of human proteins at neXtProt for ENG: NX_P17813

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P17813

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

REFSEQ proteins (2 alternative transcripts):

NP_000109.1 NP_001108225.1

ENSEMBL proteins:

ENSP00000362299 ENSP00000341917 ENSP00000441025 ENSP00000441083

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for ENG (Endoglin/CD105)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: ENG OriGene Protein Over-expression Lysate (see all 2): ENG OriGene Custom Protein Services for ENG
	GenScript Custom Purified and Recombinant Proteins Services for ENG
	Novus Biologicals ENG Proteins Novus Biologicals ENG Lysates
	Sino Biological Recombinant Protein for ENG
	ProSpec Recombinant Protein for ENG
	Uscn Proteins for ENG

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IDA	19004009
GO:0005624	membrane fraction	--	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--

ENG for ontologies About GeneDecksing

ENG Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ENG
	R&D Systems Antibodies for ENG (Endoglin/CD105)
	OriGene Antibodies (see all 5): ENG OriGene Custom Antibody Services for ENG
	GenScript Superior Antibodies for ENG
	Novus Biologicals ENG Antibodies
	Abcam antibodies for ENG
	Uscn Antibodies for ENG
	ThermoFisher Antibody for ENG

Assay Products for ENG:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for ENG (Endoglin/CD105) (see all)
	GenScript Custom Assay Services for ENG
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ENG

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

ENG for domains About GeneDecksing

1 InterPro domain/family:

IPR001507 ZP_dom

Graphical View of Domain Structure for InterPro Entry P17813

ProtoNet protein and cluster: P17813

(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: EGLN_HUMAN, P17813

Function: Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to

integrins and/or other RGD receptors

Genatlas biochemistry entry for ENG:

endoglin,68kDa,TGF beta binding glycoprotein of endothelial cells,homodimeric component of the TGFBR1

complex,proliferation associated antigen,marker of breast carcinoma

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ENG Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ENG
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate ENG (see all 11):
		hsa-miR-4264 hsa-miR-486-3p hsa-miR-29b-1* hsa-miR-370 hsa-miR-3920 hsa-miR-1207-3p hsa-miR-342-5p hsa-miR-29a*

		SwitchGear 3'UTR luciferase reporter plasmid: ENG 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 ENG (see all 7) OriGene shRNA RFP: ENG OriGene siRNA: ENG
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENG

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ENG

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENG (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ENG (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): ENG (NM_000118)
		Sino Biological Human cDNA Clone for ENG
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENG
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENG

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ENG
		Search LifeMap BioReagents cell lines for ENG

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENG

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004888	transmembrane signaling receptor activity	NAS	18974388
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	18223685
GO:0005072	transforming growth factor beta receptor, cytoplasmic mediator activity	IDA	12015308
GO:0005114	type II transforming growth factor beta receptor binding	ISS	8294451
GO:0005515	contributes to protein binding	IPI	9872992

ENG for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for ENG:

Decreased circadian period len

Increased cell death HMECs cel

Animal Models:
Mouse knock-outs for ENG: Eng^tm2.2Hma Eng^tm1Dyl
12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Eng):

cardiovascular system	cellular	craniofacial	embryogenesis	growth/size
hematopoietic system	homeostasis/metabolism	integument	mortality/aging	muscle
normal	respiratory system

ENG 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 - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

TGF-beta/Smad Signaling

TGF-beta/Smad Signaling

1.00

Angiogenesis

Angiogenesis

1.00

TGF Beta Signaling Pathway

TGF Beta Signaling Pathway

1.00

TGF-beta Receptor Signaling Pathway

TGF-beta Receptor Signaling Pathway

1.00

HIF-1-alpha transcription factor network

HIF-1-alpha transcription factor network

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 R&D Systems Pathway for ENG

TGF-beta Signaling Pathways

2 Cell Signaling Technology (CST) Pathways for ENG

	Angiogenesis
	TGF-beta/Smad Signaling

3 BioSystems Pathways for ENG

	TGF Beta Signaling Pathway
	TGF-beta Receptor Signaling Pathway
	HIF-1-alpha transcription factor network

ENG for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/24 Interacting proteins for ENG (P17813^{1, 2, 3} ENSP00000362299⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TGFB1	P01137¹^,³, ENSP00000221930⁴	EBI-2834630,EBI-779636 I2D: score=3 STRING: ENSP00000221930
ARRB2	P32121²^,³	MINT-8410792 I2D: score=1
ITGA5	P08648²	MINT-8410638 MINT-8415270 MINT-8415254 MINT-8415288
ITGB1	P05556²	MINT-8410725 MINT-8415241 MINT-8410698
TGFBR2	P37173³, ENSP00000351905⁴	I2D: score=5 STRING: ENSP00000351905

About this table

Gene Ontology (GO): 5/38 biological process terms (GO ID links to tree view) (see all 38): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	18974388
GO:0001300	chronological cell aging	IEP	18974388
GO:0001525	angiogenesis	--	--
GO:0001569	patterning of blood vessels	ISS	8194490
GO:0001570	vasculogenesis	IMP	7894484

ENG 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

ENG for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ENG
10/24 Novoseek chemical compound relationships for ENG gene (see all 24) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
vegf	73.4	210	16967447 (8), 16826056 (7), 19890661 (5), 15274325 (5) (see all 76)
tgf beta1	63.8	30	17119348 (4), 12778073 (3), 10754488 (2), 9348229 (2) (see all 13)
matrigel	48.7	5	20224041 (1), 15722513 (1), 18814342 (1), 18798555 (1) (see all 5)
tyrosine	47.6	89	19943826 (7), 20223446 (3), 19474289 (2), 17618745 (2) (see all 58)
threonine	13.9	8	16785228 (2), 12786761 (1), 15967783 (1), 9808055 (1)
tripeptide	13.6	5	8125301 (1), 8294451 (1), 16785228 (1)
paraffin	13.3	7	15355911 (4), 17594108 (1), 16523306 (1)
p002	5.32	2	10996361 (1), 16854456 (1)
ricin	3.65	2	14760060 (1), 16789887 (1)
p005	0	3	14669355 (1)

Search CenterWatch for drugs/clinical trials and news about ENG / EGLN

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 ENG gene (2 alternative transcripts):

NM_000118.2 NM_001114753.1

Unigene Cluster for ENG:

Endoglin

Hs.76753 [show with all ESTs]

Unigene Representative Sequence: NM_000118

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

ENST00000373203(uc011mam.2 uc004bsj.4) ENST00000344849(uc004bsk.4)

ENST00000480266 ENST00000486329 ENST00000462196 ENST00000545345 ENST00000546301

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ENG Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ENG
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate ENG (see all 11):
		hsa-miR-4264 hsa-miR-486-3p hsa-miR-29b-1* hsa-miR-370 hsa-miR-3920 hsa-miR-1207-3p hsa-miR-342-5p hsa-miR-29a*

		SwitchGear 3'UTR luciferase reporter plasmid: ENG 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 ENG (see all 7) OriGene shRNA RFP: ENG OriGene siRNA: ENG
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENG

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENG (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ENG (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): ENG (NM_000118)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENG
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENG

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ENG Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ENG
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENG
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENG

Additional cDNA sequence:

AK222669.1 AK223044.1 AK290389.1 AK300156.1 AK301171.1 AK302455.1 BC014271.2 BC020391.1

BT006872.1 J05481.1 X72012.1

24/40 DOTS entries (see all 40):

DT.119587 DT.121182649 DT.100766537 DT.95316150 DT.121182674 DT.121182644 DT.121182681 DT.121182743

DT.97860773 DT.121182679 DT.75151666 DT.121182670 DT.97860771 DT.101985502 DT.121182654 DT.121182839

DT.121182647 DT.121182646 DT.102825034 DT.95325839 DT.100039593 DT.101985503 DT.121182814 DT.121182660

24/478 AceView cDNA sequences (see all 478):

BQ187083 BQ772981 CD517358 BF516386 BT006872 CB069283 BF435058 BF058826

AJ707989 BQ271719 BQ959748 BQ019502 AW051717 BM694840 AI918212 BC014271

BU741952 AI146534 BM664221 BM707934 CR592853 BM313923 CA426183 BE163487

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ENG (see all 12) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	·	6d	^	7a	·	7b	^	8	^	9a	·	9b	^	10	^	11a	·	11b	^	12	^	13a	·	13b	^	14a	·	14b	^	15a	·
SP1:																																													-		-
SP2:											-
SP3:											-		-		-		-
SP4:					-						-		-		-		-
SP5:																															-

ExUns:	15b	^	16	^	17
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ENG

(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

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

About this image

ENG expression in embryonic tissues and stem cells

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

10 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Vascular Adipose

Stromal Vascular Preadipocyte Progenitor Cells

Adipose

Extraembryonic Mesoderm

Extraembryonic Mural Cells

Extraembryonic Tissues

Heart

Endocardium

Endocardial Cells

Endocardium

Lateral Plate Mesoderm

Splanchnic Mesoderm

Mural Cells

Pericytes, Smooth Muscle

Liver

Sinusoids

Sinusoidal Endothelial Cells

Endothelium

Umbilical Cord

Wharton's Jelly

Umbilical Cord Mesenchymal Stem Cells

Extraembryonic Tissues, Umbilical Cord

Skeletal Muscle

Hyoid Arch Muscles

Myoblasts

Skeletal Muscle

Mandibular Arch Muscles

Skeletal Muscle

Heart

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/24 LifeMap Cells (see all 24)

Name

Category

Human multipotent adipose-derived (hMAD) stem cells (Adult Stem / Progenitor Cell)

Adipose

Adipose-derived mesenchymal stem cells (Adult Stem / Progenitor Cell)

Adipose

Placenta-derived mesenchymal stem cells (Fetal Stem / Progenitor Cell)

Adipose, Bone, Cartilage, Extraembryonic Tissues

Bone marrow-derived mesenchymal stem cells (Lonza) (Adult Stem / Progenitor Cell)

Bone

Human bone marrow-derived mesenchymal stem cells (Adult Stem / Progenitor Cell)

Bone

Mesenchymal stem cell (Adult Stem / Progenitor Cell)

Bone

Human umbilical vein endothelial cells (HUVEC) (Primary Cell)

Endothelium

Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)

Epithelium, Kidney

Cardiosphere-derived cells (Primary Cell)

Heart, Myocardium

Placenta-derived adherent stromal cell (PLX) (Adult Stem / Progenitor Cell)

Extraembryonic Tissues, Placenta

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

SOURCE GeneReport for Unigene cluster: Hs.76753

UniProtKB/Swiss-Prot: EGLN_HUMAN, P17813

Tissue specificity: Endoglin is restricted to endothelial cells in all tissues except bone marrow

SABiosciences Expression via Pathway-Focused PCR Arrays including ENG (see all 9):

Fibrosis in human mouse rat

Cell Surface Markers in human mouse rat

TGFB/BMP Signaling Pathway in human mouse rat

Stem Cell Signaling in human mouse rat

Angiogenesis in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ENG Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ENG
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENG

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENG

(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 ENG gene from 3/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ENG¹	endoglin	51.42(n) 37.84(a)		771557 NM_001080887.1 NP_001074356.1
lizard (Anolis carolinensis)	Reptilia	ENG⁶	--	28(a)	1 ↔ 1	GL344913.1(1506-15301)
zebrafish (Danio rerio)	Actinopterygii	CABZ01064405.1⁶	--	17(a)	1 → many	3(6273243-6307324)

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

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

Paralogs for ENG gene

TGFBR3L² TGFBR3²

ENG 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)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7018778^1,2	C,F,A,H,	--	100193845(+)	`GTGTTC/TGGAAC`	2	--	ds500¹		13		NS EA NA WA CSA	988
rs113327024^1,2		--	100193869(+)	`TGTGGG/ATGGGG`	2	--	ds500¹		1		CSA	2
rs36121733^1,2	C,	--	130576881(+)	`GATAG-/ATAGATA`	4	--	ds500¹		0	--	--	--	--
rs189421042^1,2		--	130577038(+)	`CAGAGA/TGAGAG`	4	--	ds500¹		0	--	--	--	--
rs141440695^1,2		--	130577064(+)	`CTGGTA/GTTTGC`	2	--	ds500¹		0	--	--	--	--
rs181704578^1,2		--	130577132(+)	`CTGGCC/TGAATG`	2	--	ds500¹		0	--	--	--	--
rs145093299^1,2		--	130577144(+)	`AAACCG/TGCTGT`	2	--	ds500¹		0	--	--	--	--
rs138976567^1,2		--	130577155(+)	`GCCCTA/GGATGC`	2	--	ds500¹		0	--	--	--	--
rs149054804^1,2		--	130577203(+)	`GCCCAC/GTGGGG`	2	--	ds500¹		0	--	--	--	--
rs143099696^1,2		--	130577403(+)	`CTCCAC/TGTGGC`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ENG (130577291 - 130617047 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ENG: --
Human Gene Mutation Database (HGMD): ENG

Locus Specific Mutation Databases (LSDB): ENG

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ENG

DNA2.0 Custom Variant and Variant Library Synthesis for ENG

(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.)
About This Section

ENG for disorders           About GeneDecksing

OMIM gene information: 131195
OMIM disorders: 187300
UniProtKB/Swiss-Prot: EGLN_HUMAN, P17813

Defects in ENG are the cause of hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]; also known

as Osler-Rendu-Weber syndrome 1 (ORW1). HHT1 is an autosomal dominant multisystemic vascular dysplasia, characterized

by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary (PAVM), cerebral

(CAVM) and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia.

Although the first symptom of HHT1 in children is generally nose bleed, there is an important clinical heterogeneity

20/111 diseases for ENG (see all 111): About MalaCards

weber syndrome hereditary hemorrhagic telangiectasia arteriovenous malformation hereditary hemorrhagic telangiectasia type 2

tufted angioma non-small cell lung carcinoma pulmonary arteriovenous malformation squamous cell carcinoma

angiodysplasia intracranial aneurysm pre-eclampsia placental abruption

basaloid squamous cell carcinoma myocardial infarction uterine fibroid severe combined immunodeficiency

cavernous malformation myeloproliferative disorder amyotrophic lateral sclerosis combined immunodeficiency

6 diseases from the University of Copenhagen DISEASES database for ENG:

Hereditary hemorrhagic telangiectasia Telangiectasis pre-eclampsia Cancer

Angiodysplasia Proteinuria

10/85 Novoseek disease relationships for ENG gene (see all 85) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
telangiectasia hereditary hemorrhagic	93.8	94	9366572 (2), 10767348 (2), 11395379 (2), 16470589 (2) (see all 61)
telangiectasia	86.5	47	12920067 (2), 19576647 (2), 9153532 (1), 16059938 (1) (see all 32)
arteriovenous malformations	78.6	26	16470787 (3), 16179574 (2), 9366572 (1), 16059938 (1) (see all 18)
preeclampsia	78.4	101	16957146 (5), 17689641 (5), 18515525 (4), 18607829 (4) (see all 62)
vascular diseases	57	22	9366572 (1), 11382917 (1), 12667943 (1), 15385967 (1) (see all 17)
neovascularization	56.3	18	11821796 (1), 14683500 (1), 11891945 (1), 17682823 (1) (see all 11)
dysplasia	53.6	33	16595794 (2), 19273317 (2), 11821796 (1), 16153457 (1) (see all 17)
angiodysplasia	48.1	6	10187774 (1), 16429404 (1), 19205515 (1)
polyposis	47.6	7	16287957 (2), 16705692 (1), 16690726 (1), 20101697 (1)
genetic disorder	46.8	13	9366572 (1), 10625534 (1), 15385967 (1), 19762327 (1) (see all 9)

GeneTests: ENG

Hereditary Hemorrhagic Telangiectasia

Genetic Association Database (GAD): ENG
Human Genome Epidemiology (HuGE) Navigator: ENG (114 documents)

Export disorders for ENG 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)
About This Section

PubMed articles for ENG gene, integrated from 9 sources (see all 876):
(articles sorted by number of sources associating them with ENG)

Utopia: connect your pdf to the dynamic
world of online information

The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells. (PubMed id 17540773)^{1, 2, 9} Lee N.Y. and Blobe G.C. (2007)
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. (PubMed id 15712270)^{1, 2, 9} Kuehl H.K.A.... Stuhrmann M. (2005)
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. (PubMed id 12920067)^{1, 4, 9} Berg J....Guttmacher A. (2003)
Endoglin is not a major susceptibility gene for intracranial aneurysm among Japanese. (PubMed id 12775886)^{1, 4, 9} Onda H....Inoue I. (2003)
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PubMed id 15024723)^{1, 2, 9} Lesca G.... Giraud S. (2004)
Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. (PubMed id 16179574)^{1, 4, 9} Pawlikowska L....Young W.L. (2005)
Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors. (PubMed id 16982625)^{1, 2, 9} Meng Q.-J.... Garland J.M. (2006)
A DNA sequence polymorphism in the endoglin gene is not associated with intracranial aneurysm or aneurysmal subarachnoid hemorrhage. (PubMed id 15976502)^{1, 4, 9} Peters D.G....Chang Y.F. (2005)
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. (PubMed id 10982033)^{1, 2, 9} Gallione C.J.... Marchuk D.A. (2000)
Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. (PubMed id 10625079)^{1, 2, 9} Cymerman U.... Letarte M. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2022	HGNC: 3349	AceView: ENG	Ensembl:ENSG00000106991	euGenes: HUgn2022
ECgene: ENG	H-InvDB: ENG

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ENG	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ENG	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ENG

Intellectual Property for ENG gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ENG gene:
Search GeneIP for patents involving ENG

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section

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Telangiectasia Hereditary Hemorrhagic
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ENG Gene

endoglin

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