ANXA2R

annexin A2 receptor

Basic information

Region (hg38): 5:43039232-43043170

Previous symbols: [ "C5orf39" ]

Links

ENSG00000177721 ∙ NCBI:389289 ∙ OMIM:611296 ∙ HGNC:33463 ∙ Uniprot:Q3ZCQ2 ∙ 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 ANXA2R gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA2R 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in ANXA2R

This is a list of pathogenic ClinVar variants found in the ANXA2R region.

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

Position	Type	Phenotype	Significance	ClinVar
5-43039550-A-G		not specified	Uncertain significance (Dec 21, 2022)
5-43039551-G-C		not specified	Uncertain significance (Nov 17, 2023)
5-43039596-G-A		not specified	Uncertain significance (Apr 20, 2023)
5-43039598-G-A		not specified	Uncertain significance (Jan 26, 2022)
5-43039614-A-C		not specified	Uncertain significance (Feb 28, 2024)
5-43039629-C-T		not specified	Uncertain significance (Dec 17, 2023)
5-43039634-A-C		not specified	Uncertain significance (Jul 12, 2022)
5-43039656-C-T		not specified	Uncertain significance (May 05, 2023)
5-43039674-T-C		not specified	Uncertain significance (Feb 05, 2024)
5-43039703-C-G		not specified	Uncertain significance (Jun 17, 2022)
5-43039718-G-A		not specified	Uncertain significance (May 14, 2024)
5-43039871-C-T		not specified	Uncertain significance (Dec 08, 2023)
5-43039980-G-C		not specified	Uncertain significance (Jan 17, 2023)
5-43040012-G-T		not specified	Uncertain significance (Jan 03, 2024)
5-43040013-C-T		not specified	Uncertain significance (Jul 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANXA2R	protein_coding	protein_coding	ENST00000314890	1	3938

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0686	107	109	0.982	0.00000489	1233
Missense in Polyphen		22	20.613	1.0673		244
Synonymous	1.22	34	44.3	0.767	0.00000217	397
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a receptor for annexin II on marrow stromal cells to induce osteoclast formation.

Recessive Scores

• pRec: 0.0691

Intolerance Scores

• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.89

Haploinsufficiency Scores

• pHI: 0.0328
• hipred: N
• hipred_score: 0.220
• ghis: 0.395

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Molecular function: signaling receptor activity