ANGPT2
angiopoietin 2, the group of Fibrinogen C domain containing|Receptor ligands
Basic information
Region (hg38): 8:6499632-6563409
Links
Phenotypes
GenCC
Source:
- lymphatic malformation 10 (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Lymphatic malformation 10 | AD | Allergy/Immunology/Infectious | The condition involves lymphatic malformations, and in some individuals, progression to cellulitis has been reported, such that awareness may allow prompt treatment of infectious sequelae | Allergy/Immunology/Infectious; Cardiovascular | 32908006 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (65 variants)
- not_provided (25 variants)
- Lymphatic_malformation_10 (3 variants)
- ANGPT2-related_disorder (2 variants)
- Microcephaly_1,_primary,_autosomal_recessive (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANGPT2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001118887.2. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 12 | |||||
| missense | 69 | 81 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 2 | 0 | 69 | 13 | 9 |
Highest pathogenic variant AF is 0.00010284547
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ANGPT2 | protein_coding | protein_coding | ENST00000325203 | 9 | 63759 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.832 | 0.168 | 125737 | 0 | 11 | 125748 | 0.0000437 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.527 | 298 | 273 | 1.09 | 0.0000145 | 3308 |
| Missense in Polyphen | 74 | 107.57 | 0.68794 | 1285 | ||
| Synonymous | -2.15 | 130 | 102 | 1.27 | 0.00000629 | 848 |
| Loss of Function | 4.02 | 5 | 27.9 | 0.179 | 0.00000127 | 329 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000704 | 0.0000703 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1. 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. {ECO:0000269|PubMed:15284220, ECO:0000269|PubMed:19116766, ECO:0000269|PubMed:19223473, ECO:0000269|PubMed:9204896}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Rac1-Pak1-p38-MMP-2 pathway;Photodynamic therapy-induced HIF-1 survival signaling;Hypothesized Pathways in Pathogenesis of Cardiovascular Disease;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Tie2 Signaling;Cell surface interactions at the vascular wall;Hemostasis;Angiopoietin receptor Tie2-mediated signaling
(Consensus)
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- loftool
- 0.230
- rvis_EVS
- -0.42
- rvis_percentile_EVS
- 25.73
Haploinsufficiency Scores
- pHI
- 0.435
- hipred
- Y
- hipred_score
- 0.824
- ghis
- 0.507
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.857
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Angpt2
- Phenotype
- respiratory system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype; digestive/alimentary phenotype; homeostasis/metabolism phenotype; immune system phenotype; cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- angpt2b
- Affected structure
- subintestinal vein
- Phenotype tag
- abnormal
- Phenotype quality
- decreased length
Gene ontology
- Biological process
- angiogenesis;response to hypoxia;signal transduction;germ cell development;response to radiation;response to mechanical stimulus;response to glucose;negative regulation of cell-substrate adhesion;response to organic cyclic compound;response to activity;negative regulation of angiogenesis;animal organ regeneration;negative regulation of blood vessel endothelial cell migration;positive regulation of angiogenesis;Tie signaling pathway;leukocyte migration;negative regulation of positive chemotaxis;maternal process involved in female pregnancy;cellular response to growth factor stimulus;glomerulus vasculature development
- Cellular component
- extracellular region;extracellular space;nucleus;plasma membrane;cell projection
- Molecular function
- signaling receptor binding;protein binding;receptor tyrosine kinase binding;metal ion binding