ANXA3

annexin A3, the group of Annexins

Basic information

Region (hg38): 4:78551747-78610451

Previous symbols: [ "ANX3" ]

Links

ENSG00000138772NCBI:306OMIM:106490HGNC:541Uniprot:P12429AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANXA3 gene.

  • not_specified (52 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005139.3. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
51
clinvar
2
clinvar
2
clinvar
55
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 51 2 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANXA3protein_codingprotein_codingENST00000264908 1258925
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.52e-120.12312558001641257440.000652
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1091661700.9770.000008382102
Missense in Polyphen6265.2360.9504814
Synonymous-0.2066562.91.030.00000324589
Loss of Function0.6031922.10.8610.00000123260

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002010.00201
Ashkenazi Jewish0.004170.00418
East Asian0.0008730.000870
Finnish0.000.00
European (Non-Finnish)0.0002740.000264
Middle Eastern0.0008730.000870
South Asian0.0004590.000457
Other0.0008230.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: Inhibitor of phospholipase A2, also possesses anti- coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate.;
Pathway
Prostaglandin Synthesis and Regulation (Consensus)

Recessive Scores

pRec
0.170

Intolerance Scores

loftool
0.912
rvis_EVS
1.24
rvis_percentile_EVS
93.35

Haploinsufficiency Scores

pHI
0.134
hipred
N
hipred_score
0.199
ghis
0.406

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.736

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Anxa3
Phenotype
limbs/digits/tail phenotype; vision/eye 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);

Gene ontology

Biological process
phagocytosis;homophilic cell adhesion via plasma membrane adhesion molecules;positive regulation of endothelial cell migration;hippocampus development;animal organ regeneration;defense response to bacterium;negative regulation of catalytic activity;neutrophil degranulation;positive regulation of angiogenesis;positive regulation of DNA metabolic process;positive regulation of DNA-binding transcription factor activity;response to glucocorticoid;response to growth factor;regulation of NMDA receptor activity
Cellular component
cytoplasm;cytosol;plasma membrane;membrane;axon;dendrite;phagocytic vesicle membrane;specific granule;neuronal cell body;extracellular exosome
Molecular function
calcium ion binding;calcium-dependent phospholipid binding;phospholipase A2 inhibitor activity;calcium-dependent protein binding