Human Gene ANGPT2 (ENST00000629816.3_8) from GENCODE V45lift37
Description: Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1 (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF, it may facilitate endothelial cell migration and proliferation, thus serving as a permissive angiogenic signal (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). Involved in the regulation of lymphangiogenesis (PubMed:32908006). (from UniProt O15123) RefSeq Summary (NM_001118887): The protein encoded by this gene is an antagonist of angiopoietin 1 (Ang-1), and both (Ang-1 and Ang-2) are ligands for the endothelial tyrosine kinase receptor (Tie2). These two ligands affect angiogenesis during embryogenesis and tumorigenesis. The encoded protein disrupts the vascular remodeling ability of Ang-1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Nov 2019]. Gencode Transcript: ENST00000629816.3_8 Gencode Gene: ENSG00000091879.14_11 Transcript (Including UTRs) Position: hg19 chr8:6,357,153-6,420,766 Size: 63,614 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr8:6,360,622-6,420,455 Size: 59,834 Coding Exon Count: 9
ID:ANGP2_HUMAN DESCRIPTION: RecName: Full=Angiopoietin-2; Short=ANG-2; Flags: Precursor; FUNCTION: Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1 (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF, it may facilitate endothelial cell migration and proliferation, thus serving as a permissive angiogenic signal (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). Involved in the regulation of lymphangiogenesis (PubMed:32908006). SUBUNIT: Interacts with TEK/TIE2, competing for the same binding site as ANGPT1 (PubMed:9204896, PubMed:12427764, PubMed:15284220, PubMed:19223473, PubMed:32908006). Interacts with ITGA5 (PubMed:32908006). Interacts with SVEP1/polydom (By similarity). INTERACTION: O15123; Q02763: TEK; NbExp=4; IntAct=EBI-2912111, EBI-2257090; O15123-1; Q02763: TEK; NbExp=5; IntAct=EBI-15552475, EBI-2257090; SUBCELLULAR LOCATION: Secreted DOMAIN: The Fibrinogen C-terminal domain mediates interaction with the TEK/TIE2 receptor. DISEASE: Lymphatic malformation 10 (LMPHM10) [MIM:619369]: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM10 is an autosomal dominant form characterized by the onset of swelling in the lower extremities within the first year of life. Lymphedema may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis. Incomplete penetrance has been observed in some families. Note=The disease is caused by variants affecting the gene represented in this entry. WEB RESOURCE: Name=Wikipedia; Note=Angiopoietin entry; URL="https://en.wikipedia.org/wiki/Angiopoietin";
uterine leiomyomas Denschlag, D. et al. 2005, Polymorphism of the p53 tumor suppressor gene is associated with susceptibility to uterine leiomyoma., Fertility and sterility. 2005 Jul;84(1):162-6.
[PubMed 16009172]
Carriage of the p53 polymorphism at codon 72 predicts the susceptibility to leiomyoma in a Caucasian population and may contribute to the pathogenesis of uterine leiomyoma.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O15123
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Gene Ontology (GO) Annotations with Structured Vocabulary
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
