Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 4885
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol NPTX2   Gene   UCSC   Ensembl
Aliases NARP, NP-II, NP2
Gene name neuronal pentraxin 2
Alternate names neuronal pentraxin-2, apexin, neuronal activity-regulated pentaxin, neuronal pentraxin II,
Gene location 7q22.1 (98617284: 98629868)     Exons: 5     NC_000007.14
Gene summary(Entrez) This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009]
OMIM 600750

Protein Summary

Protein general information P47972  

Name: Neuronal pentraxin 2 (NP2) (Neuronal pentraxin II) (NP II)

Length: 431  Mass: 47,042

Tissue specificity: Brain, pancreas, liver, heart and skeletal muscle. Highest levels are seen in the testis.

Sequence MLALLAASVALAVAAGAQDSPAPGSRFVCTALPPEAVHAGCPLPAMPMQGGAQSPEEELRAAVLQLRETVVQQKE
TLGAQREAIRELTGKLARCEGLAGGKARGAGATGKDTMGDLPRDPGHVVEQLSRSLQTLKDRLESLEHQLRANVS
NAGLPGDFREVLQQRLGELERQLLRKVAELEDEKSLLHNETSAHRQKTESTLNALLQRVTELERGNSAFKSPDAF
KVSLPLRTNYLYGKIKKTLPELYAFTICLWLRSSASPGIGTPFSYAVPGQANEIVLIEWGNNPIELLINDKVAQL
PLFVSDGKWHHICVTWTTRDGMWEAFQDGEKLGTGENLAPWHPIKPGGVLILGQEQDTVGGRFDATQAFVGELSQ
FNIWDRVLRAQEIVNIANCSTNMPGNIIPWVDNNVDVFGGASKWPVETCEERLLDL
Structural information
Protein Domains
Pentraxin (223-424)
Interpro:  IPR013320 IPR030476 IPR001759
Prosite:   PS00289 PS51828

Pfam:  
PF00354
CDD:   cd00152
STRING:   ENSP00000265634;
Other Databases GeneCards:  NPTX2;  Malacards:  NPTX2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003674 molecular_function
ND molecular_function
GO:0005575 cellular_component
ND cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0007268 chemical synaptic transmi
ssion
NAS biological_process
GO:0008306 associative learning
IEA biological_process
GO:0030246 carbohydrate binding
IEA molecular_function
GO:0046872 metal ion binding
IEA molecular_function
GO:0003674 molecular_function
ND molecular_function
GO:0005575 cellular_component
ND cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0007268 chemical synaptic transmi
ssion
NAS biological_process
GO:0008306 associative learning
IEA biological_process
GO:0030246 carbohydrate binding
IEA molecular_function
GO:0046872 metal ion binding
IEA molecular_function
GO:0003674 molecular_function
ND molecular_function
GO:0005575 cellular_component
ND cellular_component
GO:0007268 chemical synaptic transmi
ssion
NAS biological_process

Diseases

Associated diseases References
Autism PMID: 19058789
Endometriosis PMID: 12810542
Female infertility INFBASE12810542
Implantation defects INFBASE12810542
Endometriosis INFBASE12810542
Implantation failure PMID: 12810542

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12810542 Endometrio
sis


IL-15
proline-rich protein
B61
Dickkopf-1
glycodelin
N-acetylglucosamine-6-O-sulfotransferase
G0S2 protein
purine nucleoside phosphorylase
semaphorin E
neuronal olfactomedin-related endoplasmic reticulum localized protein mRNA
Sam68-like phospho
Show abstract