ANXA5 annexin A5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANXA5provided by HGNC
Official Full Name: annexin A5provided by HGNC
Primary source: HGNC:HGNC:543
See related: Ensembl:ENSG00000164111 MIM:131230; AllianceGenome:HGNC:543
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PP4; ANX5; ENX2; CPB-I; RPRGL3; HEL-S-7; VAC-alph
Summary: The Annexin 5 gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. Polymorphisms in this gene have been implicated in various obstetric complications. [provided by RefSeq, Dec 2019]
Expression: Ubiquitous expression in fat (RPKM 198.4), placenta (RPKM 170.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q27

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (121667946..121696980, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (124971975..125001007, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (122589101..122618135, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Relevance, Predictability, and Utility of Annexin A5 for Human Physiopathology.
Title: The Relevance, Predictability, and Utility of Annexin A5 for Human Physiopathology.
Hepatitis C Virus Disrupts Annexin 5-Mediated Occludin Integrity through Downregulation of Protein Kinase Calpha (PKCalpha) and PKCeta Expression, Thereby Promoting Viral Propagation.
Title: Hepatitis C Virus Disrupts Annexin 5-Mediated Occludin Integrity through Downregulation of Protein Kinase Cα (PKCα) and PKCη Expression, Thereby Promoting Viral Propagation.
Annexin-A5 and annexin-A6 silencing prevents metastasis of breast cancer cells in zebrafish.
Title: Annexin-A5 and annexin-A6 silencing prevents metastasis of breast cancer cells in zebrafish.
Increased ANXA5 expression in stomach adenocarcinoma infers a poor prognosis and high level of immune infiltration.
Title: Increased ANXA5 expression in stomach adenocarcinoma infers a poor prognosis and high level of immune infiltration.
Annexin A5 as a targeting agent for cancer treatment.
Title: Annexin A5 as a targeting agent for cancer treatment.
Association between ANXA5 haplotypes and the risk of recurrent pregnancy loss.
Title: Association between ANXA5 haplotypes and the risk of recurrent pregnancy loss.
Clinicopathological study and immunohistochemical analysis of expression of annexin A5 and apelin in human placentae of gestational diabetes mellitus.
Title: Clinicopathological study and immunohistochemical analysis of expression of annexin A5 and apelin in human placentae of gestational diabetes mellitus.
Genetic analysis of ANXA5 haplotype and its effect on recurrent pregnancy loss.
Title: Genetic analysis of ANXA5 haplotype and its effect on recurrent pregnancy loss.
Differential expression of Lumican, Mimecan, Annexin A5 and Serotransferrin in ectopic and matched eutopic endometrium in ovarian endometriosis: a case-control study.
Title: Differential expression of Lumican, Mimecan, Annexin A5 and Serotransferrin in ectopic and matched eutopic endometrium in ovarian endometriosis: a case-control study.
Maternal and paternal carriage of the annexin A5 M2 haplotype: a possible risk factor for recurrent implantation failure (RIF).
Title: Maternal and paternal carriage of the annexin A5 M2 haplotype: a possible risk factor for recurrent implantation failure (RIF).

Submit: New GeneRIF Correction See all GeneRIFs (155)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pregnancy loss, recurrent, susceptibility to, 3 MedGen: C3280674 OMIM: 614391 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of smoking behaviours in patients with COPD. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of annexin A5 (ANXA5) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of annexin A4 and A5 in umbilical cord blood mononuclear cells and T-cell lines but downregulates the expression of annexin A1 in umbilical cord blood mononuclear cells	PubMed
Tat	tat	HIV-1 Tat-induced programmed neuronal cell death involves downregulation of annexin 5	PubMed
	tat	HIV-1 Tat is strongly associated with ANXA5 in HIV-1-infected lymphocytic cells	PubMed
capsid	gag	HIV-1 CA is strongly associated with ANXA5 in HIV-1-infected lymphocytic cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-67991 (e-PCR)
- UniSTS:72449

D4S3274 (e-PCR)
- UniSTS:9794

WI-18730 (e-PCR)
- UniSTS:60538

G62114 (e-PCR)
- UniSTS:139157

SHGC-8558 (e-PCR)
- UniSTS:88748

SHGC-59736 (e-PCR)
- UniSTS:12988

SHGC-50259 (e-PCR)
- UniSTS:34512

D4S2700 (e-PCR)
- UniSTS:153586

SHGC4-1011 (e-PCR)
- UniSTS:84471

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipase inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables phospholipid binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of coagulation	IEA Inferred from Electronic Annotation more info
involved_in response to organic substance	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endothelial microparticle	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
is_active_in vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: annexin A5

Names: CBP-I; PAP-I; VAC-alpha; anchorin CII; annexin V; annexin-5; calphobindin I; endonexin II; epididymis secretory protein Li 7; lipocortin V; placental anticoagulant protein 4; placental anticoagulant protein I; thromboplastin inhibitor; vascular anticoagulant-alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.