Human Gene ANXA5 (uc003idv.4)
  Description: Homo sapiens annexin A5 (ANXA5), mRNA.
RefSeq Summary (NM_001154): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:122,589,152-122,618,147 Size: 28,996 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr4:122,589,623-122,617,744 Size: 28,122 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:122,589,152-122,618,147)mRNA (may differ from genome)Protein (320 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANXA5_HUMAN
DESCRIPTION: RecName: Full=Annexin A5; AltName: Full=Anchorin CII; AltName: Full=Annexin V; AltName: Full=Annexin-5; AltName: Full=Calphobindin I; Short=CBP-I; AltName: Full=Endonexin II; AltName: Full=Lipocortin V; AltName: Full=Placental anticoagulant protein 4; Short=PP4; AltName: Full=Placental anticoagulant protein I; Short=PAP-I; AltName: Full=Thromboplastin inhibitor; AltName: Full=Vascular anticoagulant-alpha; Short=VAC-alpha;
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.
SUBUNIT: Monomer. Binds ATRX and EIF5B (By similarity). Interacts with hepatitis B virus (HBV).
DOMAIN: A pair of annexin repeats may form one binding site for calcium and phospholipid.
DISEASE: Defects in ANXA5 are associated with susceptibility to pregnancy loss, recurrent, type 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.
SIMILARITY: Belongs to the annexin family.
SIMILARITY: Contains 4 annexin repeats.
WEB RESOURCE: Name=R&D Systems' cytokine source book: Annexin V; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1063";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANXA5
CDC HuGE Published Literature: ANXA5
Positive Disease Associations: Diabetes Mellitus, Type 2 , pregnancy loss, recurrent , Pulmonary Disease, Chronic Obstructive , Tunica Media
Related Studies:
  1. Diabetes Mellitus, Type 2
    Paul R Burton et al. Nature 2007, Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls., Nature. [PubMed 17554300]
  2. pregnancy loss, recurrent
    Bogdanova, N. et al. 2007, A Common Haplotype of the Annexin A5 (ANXA5) Gene Promoter Is Associated with Recurrent Pregnancy Loss, Hum Mol Genet 2007. [PubMed 17339269]
  3. Pulmonary Disease, Chronic Obstructive
    Mateusz Siedlinski et al. Thorax 2011, Genome-wide association study of smoking behaviours in patients with COPD., Thorax. [PubMed 21685187]
    The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ANXA5
Diseases sorted by gene-association score: pregnancy loss, recurrent 3* (594), pregnancy loss, recurrent, susceptibility 3* (100), antiphospholipid syndrome (15), overhydrated hereditary stomatocytosis (11), indolent myeloma (8), myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (7), barth syndrome (6), israeli tick typhus (6), cerebral neuroblastoma (5), transposition of the great arteries (4), gnathomiasis (4), small cell sarcoma (4), cardiomyopathy, hypertrophic, 2 (4), growth hormone deficiency, isolated, type ii (4), colon adenocarcinoma (4), central nervous system tuberculosis (4), amyotrophic lateral sclerosis type 10 (3), pancreatic cancer (3), lung cancer (3), colorectal cancer (2), myelodysplastic syndrome (2), chronic lymphocytic leukemia (2), uveal melanoma (2), ovarian cancer, somatic (2), leukemia, chronic myeloid, somatic (2), prostate cancer (2), squamous cell carcinoma, head and neck (2), myocardial infarction (1), osteosarcoma, somatic (1), gastrointestinal system cancer (1), lymphoma, non-hodgkin (1), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 531.36 RPKM in Cells - Cultured fibroblasts
Total median expression: 7101.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.10165-0.376 Picture PostScript Text
3' UTR -98.00471-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001464 - Annexin
IPR018502 - Annexin_repeat
IPR018252 - Annexin_repeat_CS
IPR015473 - Annexins_V
IPR002392 - AnnexinV

Pfam Domains:
PF00191 - Annexin

SCOP Domains:
47874 - Annexin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1ANW - X-ray MuPIT 1ANX - X-ray MuPIT 1AVH - X-ray MuPIT 1AVR - X-ray MuPIT 1HAK - X-ray MuPIT 1HVD - X-ray MuPIT 1HVE - X-ray MuPIT 1HVF - X-ray MuPIT 1HVG - X-ray MuPIT 1SAV - X-ray MuPIT 2XO2 - X-ray MuPIT 2XO3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P08758
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004859 phospholipase inhibitor activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0005544 calcium-dependent phospholipid binding

Biological Process:
GO:0002576 platelet degranulation
GO:0007165 signal transduction
GO:0007596 blood coagulation
GO:0007599 hemostasis
GO:0010033 response to organic substance
GO:0043066 negative regulation of apoptotic process
GO:0043086 negative regulation of catalytic activity
GO:0050819 negative regulation of coagulation

Cellular Component:
GO:0005576 extracellular region
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0070062 extracellular exosome
GO:0072563 endothelial microparticle


-  Descriptions from all associated GenBank mRNAs
  BC001429 - Homo sapiens annexin A5, mRNA (cDNA clone MGC:2261 IMAGE:3140878), complete cds.
BC032093 - Homo sapiens annexin A5, mRNA (cDNA clone IMAGE:3924873).
EU794590 - Homo sapiens epididymis secretory protein Li 7 (HEL-S-7) mRNA, complete cds.
BC018671 - Homo sapiens annexin A5, mRNA (cDNA clone MGC:27177 IMAGE:4252480), complete cds.
M18366 - Human placental anticoagulant protein (PAP) mRNA, complete cds.
X12454 - Human mRNA for vascular anticoagulant.
D00172 - Homo sapiens mRNA for blood coagulation inhibitor, complete cds.
E01816 - cDNA encoding human anticoagulant.
E03096 - DNA encoding calphobindin(CPB-I).
M19384 - Human placenta anticoagulant protein PP4 mRNA, complete cds.
J03745 - Human endonexin II mRNA, complete cds.
M21731 - Human lipocortin-V mRNA, complete cds.
BC012804 - Homo sapiens annexin A5, mRNA (cDNA clone MGC:2795 IMAGE:2961097), complete cds.
BC012822 - Homo sapiens annexin A5, mRNA (cDNA clone MGC:4465 IMAGE:2961097), complete cds.
BC004993 - Homo sapiens annexin A5, mRNA (cDNA clone MGC:4402 IMAGE:2906015), complete cds.
JD302698 - Sequence 283722 from Patent EP1572962.
JD287753 - Sequence 268777 from Patent EP1572962.
JD427792 - Sequence 408816 from Patent EP1572962.
JD214480 - Sequence 195504 from Patent EP1572962.
AY577779 - Homo sapiens annexin V-like mRNA, complete sequence.
CR536522 - Homo sapiens full open reading frame cDNA clone RZPDo834B1220D for gene ANXA5, annexin A5; complete cds, incl. stopcodon.
AK312644 - Homo sapiens cDNA, FLJ93030, Homo sapiens annexin A5 (ANXA5), mRNA.
DQ891944 - Synthetic construct Homo sapiens clone IMAGE:100004574; FLH263565.01X; RZPDo839F09136D annexin A5 (ANXA5) gene, encodes complete protein.
EU176318 - Synthetic construct Homo sapiens clone IMAGE:100006561; FLH263566.01X; RZPDo839H02135D annexin A5 (ANXA5) gene, encodes complete protein.
KJ890676 - Synthetic construct Homo sapiens clone ccsbBroadEn_00070 ANXA5 gene, encodes complete protein.
KJ896432 - Synthetic construct Homo sapiens clone ccsbBroadEn_05826 ANXA5 gene, encodes complete protein.
EU176660 - Synthetic construct Homo sapiens clone IMAGE:100011452; FLH181788.01L; RZPDo839B12254D annexin A5 (ANXA5) gene, encodes complete protein.
AB528061 - Synthetic construct DNA, clone: pF1KE0213, Homo sapiens ANXA5 gene for annexin A5, without stop codon, in Flexi system.
AM393144 - Synthetic construct Homo sapiens clone IMAGE:100002545 for hypothetical protein (ANXA5 gene).
CR541842 - Homo sapiens full open reading frame cDNA clone RZPDo834A1232D for gene ANXA5, annexin A5; complete cds, without stopcodon.
CU676274 - Synthetic construct Homo sapiens gateway clone IMAGE:100023395 5' read ANXA5 mRNA.
AK297909 - Homo sapiens cDNA FLJ52002 complete cds, highly similar to Annexin A5.
CU678846 - Synthetic construct Homo sapiens gateway clone IMAGE:100018905 5' read ANXA5 mRNA.
JD487751 - Sequence 468775 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P08758 (Reactome details) participates in the following event(s):

R-HSA-482772 Release of platelet cytosolic components
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ANX5, ANXA5_HUMAN, D3DNW7, ENX2, NM_001154, NP_001145, P08758, PP4, Q6FHB3, Q6FI16, Q8WV69, Q9UDH9
UCSC ID: uc003idv.4
RefSeq Accession: NM_001154
Protein: P08758 (aka ANXA5_HUMAN or ANX5_HUMAN)
CCDS: CCDS3720.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001154.3
exon count: 13CDS single in 3' UTR: no RNA size: 1624
ORF size: 963CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1942.00frame shift in genome: no % Coverage: 98.46
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.