Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 308
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol ANXA5   Gene   UCSC   Ensembl
Aliases ANX5, ENX2, HEL-S-7, PP4, RPRGL3
Gene name annexin A5
Alternate names annexin A5, 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 anticoagulan,
Gene location 4q27 (121696991: 121667996)     Exons: 14     NC_000004.12
Gene summary(Entrez) 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. The 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. [provided by RefSeq, Jul 2008]
OMIM 131230

Protein Summary
Protein general information P08758  

Name: Annexin A5 (Anchorin CII) (Annexin V) (Annexin 5) (Calphobindin I) (CBP I) (Endonexin II) (Lipocortin V) (Placental anticoagulant protein 4) (PP4) (Placental anticoagulant protein I) (PAP I) (Thromboplastin inhibitor) (Vascular anticoagulant alpha) (VAC a

Length: 320  Mass: 35,937

Sequence MAQVLRGTVTDFPGFDERADAETLRKAMKGLGTDEESILTLLTSRSNAQRQEISAAFKTLFGRDLLDDLKSELTG
KFEKLIVALMKPSRLYDAYELKHALKGAGTNEKVLTEIIASRTPEELRAIKQVYEEEYGSSLEDDVVGDTSGYYQ
RMLVVLLQANRDPDAGIDEAQVEQDAQALFQAGELKWGTDEEKFITIFGTRSVSHLRKVFDKYMTISGFQIEETI
DRETSGNLEQLLLAVVKSIRSIPAYLAETLYYAMKGAGTDDHTLIRVMVSRSEIDLFNIRKEFRKNFATSLYSMI
KGDTSGDYKKALLLLCGEDD
Structural information

Motifs
 [IL]-x-C-x-x-[DE] motif.(314-319)
Interpro:  IPR001464 IPR018502 IPR018252 IPR002392
Prosite:   PS00223

Pfam:  		 PF00191

PDB:  		 1ANW 1ANX 1AVH 1AVR 1HAK 1HVD 1HVE 1HVF 1HVG 1SAV 2XO2 2XO3
PDBsum:   1ANW 1ANX 1AVH 1AVR 1HAK 1HVD 1HVE 1HVF 1HVG 1SAV 2XO2 2XO3
MINT:   1382250
STRING:   ENSP00000296511;
Other Databases GeneCards:  ANXA5;  Malacards:  ANXA5

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0002230 positive regulation of de
fense response to virus b
y host
 IMP biological_process
GO:0004859 phospholipase inhibitor a
ctivity
 TAS molecular_function
GO:0005388 calcium-transporting ATPa
se activity
 IEA molecular_function
GO:0005509 calcium ion binding
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005543 phospholipid binding
 TAS molecular_function
GO:0005544 calcium-dependent phospho
lipid binding
 IDA molecular_function
GO:0005622 intracellular
 IDA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0005783 endoplasmic reticulum
 IEA cellular_component
GO:0005829 cytosol
 IEA cellular_component
GO:0005925 focal adhesion
 IDA cellular_component
GO:0007165 signal transduction
 TAS biological_process
GO:0007596 blood coagulation
 IEA biological_process
GO:0008021 synaptic vesicle
 IEA cellular_component
GO:0009897 external side of plasma m
embrane
 IEA cellular_component
GO:0014704 intercalated disc
 IEA cellular_component
GO:0016020 membrane
 IDA cellular_component
GO:0017046 peptide hormone binding
 IEA molecular_function
GO:0030018 Z disc
 IEA cellular_component
GO:0030195 negative regulation of bl
ood coagulation
 IEA biological_process
GO:0030425 dendrite
 IEA cellular_component
GO:0030971 receptor tyrosine kinase
binding
 IEA molecular_function
GO:0042383 sarcolemma
 IEA cellular_component
GO:0043065 positive regulation of ap
optotic process
 IEA biological_process
GO:0043066 negative regulation of ap
optotic process
 TAS biological_process
GO:0043086 negative regulation of ca
talytic activity
 IEA biological_process
GO:0043204 perikaryon
 IEA cellular_component
GO:0043679 axon terminus
 IEA cellular_component
GO:0051260 protein homooligomerizati
on
 IEA biological_process
GO:0051592 response to calcium ion
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070588 calcium ion transmembrane
transport
 IEA biological_process
GO:0071284 cellular response to lead
ion
 IEA biological_process
GO:0072563 endothelial microparticle
 IEA cellular_component
GO:0097066 response to thyroid hormo
ne
 IEA biological_process
GO:0097211 cellular response to gona
dotropin-releasing hormon
e
 IEA biological_process
GO:0098779 mitophagy in response to
mitochondrial depolarizat
ion
 IGI biological_process
GO:0098792 xenophagy
 IMP biological_process
GO:1901317 regulation of flagellated
sperm motility
 IEA biological_process
GO:1902721 negative regulation of pr
olactin secretion
 IEA biological_process
GO:0002230 positive regulation of de
fense response to virus b
y host
 IMP biological_process
GO:0004859 phospholipase inhibitor a
ctivity
 TAS molecular_function
GO:0005388 calcium-transporting ATPa
se activity
 IEA molecular_function
GO:0005509 calcium ion binding
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005543 phospholipid binding
 TAS molecular_function
GO:0005544 calcium-dependent phospho
lipid binding
 IEA molecular_function
GO:0005544 calcium-dependent phospho
lipid binding
 IEA molecular_function
GO:0005544 calcium-dependent phospho
lipid binding
 IEA molecular_function
GO:0005544 calcium-dependent phospho
lipid binding
 IDA molecular_function
GO:0005615 extracellular space
 IEA cellular_component
GO:0005622 intracellular
 IDA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0005783 endoplasmic reticulum
 IEA cellular_component
GO:0005829 cytosol
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005925 focal adhesion
 IDA cellular_component
GO:0007165 signal transduction
 TAS biological_process
GO:0007596 blood coagulation
 IEA biological_process
GO:0007599 hemostasis
 IEA biological_process
GO:0008021 synaptic vesicle
 IEA cellular_component
GO:0009897 external side of plasma m
embrane
 IEA cellular_component
GO:0010033 response to organic subst
ance
 IEA biological_process
GO:0014704 intercalated disc
 IEA cellular_component
GO:0016020 membrane
 IDA cellular_component
GO:0017046 peptide hormone binding
 IEA molecular_function
GO:0030018 Z disc
 IEA cellular_component
GO:0030195 negative regulation of bl
ood coagulation
 IEA biological_process
GO:0030425 dendrite
 IEA cellular_component
GO:0030971 receptor tyrosine kinase
binding
 IEA molecular_function
GO:0042383 sarcolemma
 IEA cellular_component
GO:0042995 cell projection
 IEA cellular_component
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043065 positive regulation of ap
optotic process
 IEA biological_process
GO:0043066 negative regulation of ap
optotic process
 TAS biological_process
GO:0043086 negative regulation of ca
talytic activity
 IEA biological_process
GO:0043204 perikaryon
 IEA cellular_component
GO:0043679 axon terminus
 IEA cellular_component
GO:0050819 negative regulation of co
agulation
 IEA biological_process
GO:0051260 protein homooligomerizati
on
 IEA biological_process
GO:0051592 response to calcium ion
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070588 calcium ion transmembrane
transport
 IEA biological_process
GO:0071284 cellular response to lead
ion
 IEA biological_process
GO:0072563 endothelial microparticle
 IEA cellular_component
GO:0097066 response to thyroid hormo
ne
 IEA biological_process
GO:0097211 cellular response to gona
dotropin-releasing hormon
e
 IEA biological_process
GO:0098779 mitophagy in response to
mitochondrial depolarizat
ion
 IGI biological_process
GO:0098792 xenophagy
 IMP biological_process
GO:1901317 regulation of flagellated
sperm motility
 IEA biological_process
GO:1902721 negative regulation of pr
olactin secretion
 IEA biological_process
GO:0002230 positive regulation of de
fense response to virus b
y host
 IMP biological_process
GO:0004859 phospholipase inhibitor a
ctivity
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005543 phospholipid binding
 TAS molecular_function
GO:0005544 calcium-dependent phospho
lipid binding
 IDA molecular_function
GO:0005622 intracellular
 IDA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0005925 focal adhesion
 IDA cellular_component
GO:0007165 signal transduction
 TAS biological_process
GO:0016020 membrane
 IDA cellular_component
GO:0043066 negative regulation of ap
optotic process
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0098779 mitophagy in response to
mitochondrial depolarizat
ion
 IGI biological_process
GO:0098792 xenophagy
 IMP biological_process

Diseases

Associated diseases References
Asthenozoospermia PMID: 20231113
Cerebral palsy PMID: 18977990
Diabetes PMID: 17554300
Endometriosis PMID: 22736326
Female infertility PMID: 16768047
Femur Head Necrosis PMID: 19345290
Kidney disease PMID: 19578796
Metabolic syndrome PMID: 19056482
Myocardial infarction PMID: 16025836
Preeclampsia PMID: 17137622
Pulmonary disease PMID: 21685187
Recurrent miscarriage PMID: 23498654, PMID: 17339269, OMIM: 131230
Endometriosis INFBASE22736326

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22736326 Endometrio
sis
353 (121 contro
ls without endo
metriosis at la
paroscopy and f
rom 232 women w
ith endometrios
is (minimal-mil
d n = 148; mode
rate-severe n =
84))
 Annexin V
VEGF
CA-125 and sICAM-1
glycodelin
 Show abstract