ANXA2P2
Basic information
Region (hg38): 9:33624274-33625293
Previous symbols: [ "ANX2P2", "ANX2L2", "LPC2B" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA2P2 gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.851
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.781
Gene ontology
- Biological process
- angiogenesis;membrane raft assembly;positive regulation of receptor recycling;positive regulation of protein phosphorylation;growth plate cartilage development;vesicle budding from membrane;regulation of plasminogen activation;collagen fibril organization;biomineral tissue development;positive regulation of vesicle fusion;positive regulation of chondrocyte differentiation;negative regulation of low-density lipoprotein particle receptor catabolic process;osteoclast development;fibrinolysis;negative regulation of catalytic activity;positive regulation of vacuole organization;negative regulation of development of symbiont involved in interaction with host;positive regulation by host of viral process;positive regulation of fibroblast proliferation;protein heterotetramerization;regulation of cytosolic calcium ion concentration;positive regulation of calcium ion transport;catabolism by host of symbiont protein;negative regulation by host of symbiont molecular function;endocardial cell differentiation;calcium ion transmembrane transport;protein localization to plasma membrane;positive regulation of viral life cycle;positive regulation of low-density lipoprotein particle clearance;positive regulation of low-density lipoprotein particle receptor binding;positive regulation of low-density lipoprotein receptor activity;positive regulation of receptor-mediated endocytosis involved in cholesterol transport
- Cellular component
- basement membrane;extracellular space;nucleus;cytoplasm;plasma membrane;vesicle;melanosome;extracellular exosome
- Molecular function
- phosphatidylserine binding;protease binding;calcium channel activity;calcium ion binding;protein binding;calcium-dependent phospholipid binding;phosphatidylinositol-4,5-bisphosphate binding;cytoskeletal protein binding;Rab GTPase binding;phospholipase A2 inhibitor activity;identical protein binding;S100 protein binding;bone sialoprotein binding;virion binding;voltage-gated calcium channel activity involved in regulation of cytosolic calcium levels