ANG
angiogenin, the group of Ribonuclease A family|Endoribonucleases
Basic information
Region (hg38): 14:20684177-20698971
Links
Phenotypes
GenCC
Source:
- amyotrophic lateral sclerosis type 9 (Strong), mode of inheritance: AD
- amyotrophic lateral sclerosis type 9 (Definitive), mode of inheritance: AD
- amyotrophic lateral sclerosis (Supportive), mode of inheritance: AD
- amyotrophic lateral sclerosis type 9 (Strong), mode of inheritance: AD
- amyotrophic lateral sclerosis type 9 (Limited), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Amyotrophic lateral sclerosis 9 | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 15557516; 16501576; 17886298; 18087731; 18852347; 19153377; 20577002 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (54 variants)
- Amyotrophic_lateral_sclerosis_type_9 (24 variants)
- Inborn_genetic_diseases (18 variants)
- ANG-related_disorder (11 variants)
- not_specified (6 variants)
- Frontotemporal_dementia (1 variants)
- Amyotrophic_lateral_sclerosis_type_10 (1 variants)
- Amyotrophic_lateral_sclerosis (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANG gene is commonly pathogenic or not. These statistics are base on transcript: NM_001097577.3. 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 | 15 | 15 | ||||
| missense | 44 | 59 | ||||
| nonsense | 0 | |||||
| start loss | 1 | 1 | ||||
| frameshift | 2 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 6 | 2 | 47 | 21 | 1 |
Highest pathogenic variant AF is 0.000017967
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ANG | protein_coding | protein_coding | ENST00000336811 | 1 | 14795 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.287 | 0.501 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.0777 | 83 | 85.0 | 0.976 | 0.00000536 | 952 |
| Missense in Polyphen | 22 | 26.47 | 0.83113 | 322 | ||
| Synonymous | 0.324 | 32 | 34.4 | 0.930 | 0.00000207 | 306 |
| Loss of Function | 0.239 | 0 | 0.0668 | 0.00 | 2.76e-9 | 3 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus. Stimulates ribosomal RNA synthesis including that containing the initiation site sequences of 45S rRNA. Cleaves tRNA within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs) which inhibit protein synthesis and triggers the assembly of stress granules (SGs). Angiogenin induces vascularization of normal and malignant tissues. Angiogenic activity is regulated by interaction with RNH1 in vivo. {ECO:0000269|PubMed:12051708, ECO:0000269|PubMed:1400510, ECO:0000269|PubMed:19354288, ECO:0000269|PubMed:21855800}.;
- Disease
- DISEASE: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269|PubMed:15557516, ECO:0000269|PubMed:16501576, ECO:0000269|PubMed:17703939, ECO:0000269|PubMed:17886298, ECO:0000269|PubMed:17900154, ECO:0000269|PubMed:18087731, ECO:0000269|PubMed:22292843, ECO:0000269|PubMed:25372031}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.;
- Pathway
- Cell-cell junction organization;Adherens junctions interactions;Cell junction organization;Cell-Cell communication
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- 0.24
- rvis_percentile_EVS
- 68.98
Haploinsufficiency Scores
- pHI
- 0.190
- hipred
- N
- hipred_score
- 0.146
- ghis
- 0.406
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.998
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Medium |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ang
- Phenotype
Gene ontology
- Biological process
- angiogenesis;ovarian follicle development;oocyte maturation;response to hypoxia;placenta development;positive regulation of endothelial cell proliferation;diacylglycerol biosynthetic process;cell communication;activation of phospholipase C activity;rRNA transcription;response to hormone;cell migration;negative regulation of translation;actin filament polymerization;activation of protein kinase B activity;activation of phospholipase A2 activity;adherens junction organization;positive regulation of phosphorylation;homeostatic process;negative regulation of smooth muscle cell proliferation;positive regulation of protein secretion;RNA phosphodiester bond hydrolysis
- Cellular component
- extracellular region;basement membrane;extracellular space;nucleus;nucleolus;growth cone;cytoplasmic vesicle;angiogenin-PRI complex;neuronal cell body
- Molecular function
- DNA binding;actin binding;endonuclease activity;ribonuclease activity;signaling receptor binding;copper ion binding;protein binding;heparin binding;rRNA binding;peptide binding;protein homodimerization activity