ANXA8

annexin A8, the group of Annexins

Basic information

Region (hg38): 10:47460162-47484158

Previous symbols: [ "ANX8" ]

Links

ENSG00000265190

∙ NCBI:653145 ∙ OMIM:602396 ∙ HGNC:546 ∙ Uniprot:P13928 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANXA8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA8 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: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade.;

Recessive Scores

pRec: 0.134

Haploinsufficiency Scores

pHI: 0.150
hipred
hipred_score
ghis: 0.402

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.750

Mouse Genome Informatics

Gene name: Anxa8
Phenotype: cellular phenotype; hematopoietic system phenotype; immune system phenotype;

Gene ontology

Biological process: endosome organization;blood coagulation;endosomal transport;negative regulation of serine-type endopeptidase activity;negative regulation of phospholipase A2 activity
Cellular component: cytosol;plasma membrane;late endosome membrane;collagen-containing extracellular matrix
Molecular function: calcium ion binding;calcium-dependent phospholipid binding;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-3,4,5-trisphosphate binding;phosphatidylinositol-3,4-bisphosphate binding;actin filament binding