ANXA5

annexin A5, the group of Annexins

Basic information

Region (hg38): 4:121667946-121696995

Previous symbols: [ "ENX2", "ANX5" ]

Links

ENSG00000164111 ∙ NCBI:308 ∙ OMIM:131230 ∙ HGNC:543 ∙ Uniprot:P08758 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• pregnancy loss, recurrent, susceptibility to, 3 (Disputed Evidence), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANXA5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA5 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				1	1	2
missense			20	2		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	20	3	2

Variants in ANXA5

This is a list of pathogenic ClinVar variants found in the ANXA5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-121669609-A-G		not specified	Uncertain significance (Jan 03, 2022)
4-121669669-A-G		ANXA5-related disorder	Likely benign (Mar 01, 2019)
4-121669691-C-T		not specified	Uncertain significance (Jan 09, 2024)
4-121669702-G-C		not specified	Uncertain significance (Jun 07, 2024)
4-121669963-A-G			Likely benign (May 16, 2018)
4-121671558-A-T		not specified	Uncertain significance (Mar 05, 2024)
4-121671589-G-A		not specified	Uncertain significance (Apr 04, 2024)
4-121671610-G-C		not specified	Uncertain significance (Nov 12, 2021)
4-121671616-C-G		Pregnancy loss, recurrent, susceptibility to, 3	Uncertain significance (-)
4-121672556-C-A		not specified	Uncertain significance (Apr 07, 2023)
4-121672583-T-C		not specified	Uncertain significance (Apr 05, 2023)
4-121672595-C-G		not specified	Uncertain significance (Nov 14, 2023)
4-121677915-A-G			Benign (Aug 06, 2018)
4-121678458-T-C		not specified	Uncertain significance (Jan 17, 2024)
4-121678468-C-T		not specified	Uncertain significance (Jan 04, 2022)
4-121681683-C-G		not specified	Uncertain significance (Jun 21, 2022)
4-121681724-A-C		not specified	Uncertain significance (Nov 16, 2022)
4-121683371-G-A		not specified	Uncertain significance (Oct 18, 2021)
4-121683402-G-A		not specified	Uncertain significance (Sep 22, 2022)
4-121683407-G-C		not specified	Uncertain significance (Jul 13, 2021)
4-121683425-A-G			Likely benign (Jul 11, 2018)
4-121684706-A-T		not specified	Uncertain significance (Jan 09, 2024)
4-121684747-G-A		not specified	Uncertain significance (Dec 07, 2021)
4-121686304-C-A		not specified	Uncertain significance (Jun 01, 2023)
4-121686329-C-T		not specified	Uncertain significance (Feb 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANXA5	protein_coding	protein_coding	ENST00000296511	12	29159

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.80e-15	0.0115	125520	1	224	125745	0.000895

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.551	149	169	0.881	0.00000847	2068
Missense in Polyphen		63	72.459	0.86946		891
Synonymous	0.258	55	57.5	0.957	0.00000257	611
Loss of Function	-0.0562	22	21.7	1.01	0.00000117	254

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000923	0.000913
Ashkenazi Jewish	0.00675	0.00677
East Asian	0.000381	0.000381
Finnish	0.000648	0.000647
European (Non-Finnish)	0.000723	0.000721
Middle Eastern	0.000381	0.000381
South Asian	0.00112	0.00108
Other	0.000492	0.000489

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.
• Disease: DISEASE: Pregnancy loss, recurrent, 3 (RPRGL3) [MIM:614391]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. {ECO:0000269|PubMed:17339269}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
• Pathway: Apoptosis-related network due to altered Notch3 in ovarian cancer;Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway;Prostaglandin Synthesis and Regulation;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.464

Intolerance Scores

• loftool: 0.896
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.2

Haploinsufficiency Scores

• pHI: 0.439
• hipred: Y
• hipred_score: 0.564
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Anxa5
• Phenotype: hematopoietic system phenotype; normal phenotype; immune system phenotype; skeleton phenotype; limbs/digits/tail phenotype

Gene ontology

• Biological process: platelet degranulation;signal transduction;blood coagulation;response to organic substance;negative regulation of blood coagulation;positive regulation of apoptotic process;negative regulation of apoptotic process;negative regulation of catalytic activity;protein homooligomerization;negative regulation of sequestering of calcium ion;response to calcium ion;calcium ion transmembrane transport;cellular response to lead ion;response to thyroid hormone;cellular response to gonadotropin-releasing hormone;ATP hydrolysis coupled cation transmembrane transport;regulation of flagellated sperm motility;negative regulation of prolactin secretion
• Cellular component: extracellular region;cytoplasm;cytosol;focal adhesion;external side of plasma membrane;membrane;collagen-containing extracellular matrix;extracellular exosome;endothelial microparticle
• Molecular function: phospholipase inhibitor activity;calcium-transporting ATPase activity;calcium ion binding;protein binding;phospholipid binding;calcium-dependent phospholipid binding;heparin binding;peptide hormone binding;receptor tyrosine kinase binding;molecular adaptor activity