EGLN_HUMAN
Source:
PM19886704
PM23856902
BD_CD
Marked as 'Integral membrane protein'
Confidence:
high (a blood group or CD marker)
Search PubMed for
(RBC AND this entry)
Gene names:
ENG
, END
Protein names and data:
EGLN_HUMAN
, Endoglin
, CD105; Flags: Precursor
Lenght: 658 a.a.
Mass: 70578 Da
fasta formatted sequence
Function:
Major glycoprotein of vascular endothelium. Involved in the regulation of angiogenesis. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Acts as TGF-beta coreceptor and is involved in the TGF- beta/BMP signaling cascade. Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGF-beta1 signaling through SMAD3.
Disease:
( OMIM:
131195
187300
)
Hereditary hemorrhagic telangiectasia 1 (HHT1) [MIM:187300]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Membrane; Single-pass type I membrane protein.
Tissue specificity:
Endoglin is restricted to endothelial cells in all tissues except bone marrow.
Genetic variants
5 - 5
T -> M (in dbSNP:rs35400405). VAR_005192
35400405
8 - 8
L -> P (in HHT1). VAR_026774
49 - 49
V -> F (in HHT1). VAR_026775
52 - 52
G -> V (in HHT1). VAR_005193
53 - 53
C -> R (in HHT1). VAR_005194
107 - 107
L -> R (in HHT1). VAR_026776
149 - 149
W -> C (in HHT1). VAR_005195
160 - 160
A -> D (in HHT1). VAR_009120
192 - 198
Missing (in HHT1). VAR_005196
207 - 207
Missing (in HHT1). VAR_026777
221 - 221
L -> P (in HHT1). VAR_009121
232 - 233
Missing (in HHT1). VAR_026778
263 - 263
I -> T (in HHT1). VAR_026780
263 - 263
Missing (in HHT1). VAR_026779
306 - 306
L -> P (in HHT1). VAR_005197
366 - 366
D -> H (in dbSNP:rs1800956). VAR_014764
1800956
412 - 412
C -> S (in HHT1). VAR_026781
413 - 413
G -> V (in HHT1). VAR_037140
504 - 504
V -> M (in HHT1; dbSNP:rs116330805). VAR_026782
116330805
615 - 615
S -> L (in HHT1). VAR_026783
Database cross-references
UniProt:
P17813
Ensembl:
ENST00000344849
Ensembl:
ENST00000373203
MIM:
131195
MIM:
187300
neXtProt:
NX_P17813
Antibodypedia:
P17813
(may not find the protein thus also not any antibody)
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