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Aliases for NPTXR Gene

Aliases for NPTXR Gene

  • Neuronal Pentraxin Receptor 2 3
  • NPR 3

External Ids for NPTXR Gene

Previous GeneCards Identifiers for NPTXR Gene

  • GC22M035828
  • GC22M037457
  • GC22M037538
  • GC22M039214
  • GC22M022180

Summaries for NPTXR Gene

Entrez Gene Summary for NPTXR Gene

  • This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]

GeneCards Summary for NPTXR Gene

NPTXR (Neuronal Pentraxin Receptor) is a Protein Coding gene. Diseases associated with NPTXR include paraphimosis and acromesomelic dysplasia, maroteaux type. An important paralog of this gene is PTX3.

UniProtKB/Swiss-Prot for NPTXR Gene

  • May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.

Gene Wiki entry for NPTXR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPTXR Gene

Genomics for NPTXR Gene

Regulatory Elements for NPTXR Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NPTXR Gene

Chromosome:
22
Start:
38,818,451 bp from pter
End:
38,844,012 bp from pter
Size:
25,562 bases
Orientation:
Minus strand

Genomic View for NPTXR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NPTXR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPTXR Gene

Proteins for NPTXR Gene

  • Protein details for NPTXR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95502-NPTXR_HUMAN
    Recommended name:
    Neuronal pentraxin receptor
    Protein Accession:
    O95502

    Protein attributes for NPTXR Gene

    Size:
    500 amino acids
    Molecular mass:
    52846 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 2 calcium ions per subunit.;
    Quaternary structure:
    • Heteropentamer with NPTX1 and/or NPTX2. Also binds taipoxin-associated calcium-binding protein 49 (TCBP49/RCN2). Interacts with KLHL2 (By similarity).
    SequenceCaution:
    • Sequence=CAA15430.3; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for NPTXR Gene

Proteomics data for NPTXR Gene at MOPED

Post-translational modifications for NPTXR Gene

  • Ubiquitinated by a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing KLHL2.
  • Glycosylation at Asn 42, Asn 216, and Asn 463
  • Modification sites at PhosphoSitePlus

Other Protein References for NPTXR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for NPTXR (Neuronal Pentraxin R/NPTXR)

No data available for DME Specific Peptides for NPTXR Gene

Domains & Families for NPTXR Gene

Gene Families for NPTXR Gene

Protein Domains for NPTXR Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NPTXR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95502

UniProtKB/Swiss-Prot:

NPTXR_HUMAN :
  • Contains 1 pentaxin domain.
Domain:
  • Contains 1 pentaxin domain.
genes like me logo Genes that share domains with NPTXR: view

Function for NPTXR Gene

Molecular function for NPTXR Gene

GENATLAS Biochemistry:
neuronal pentraxin receptor,interacting with NPTX1,NPTX2 and taipoxin-associated calcium binding protein 49,putatively involved in the clearance of synaptic debris
UniProtKB/Swiss-Prot Function:
May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.

Gene Ontology (GO) - Molecular Function for NPTXR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NPTXR: view
genes like me logo Genes that share phenotypes with NPTXR: view

Animal Models for NPTXR Gene

MGI Knock Outs for NPTXR:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NPTXR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NPTXR Gene

Localization for NPTXR Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPTXR Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NPTXR Gene COMPARTMENTS Subcellular localization image for NPTXR gene
Compartment Confidence
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NPTXR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NPTXR: view

Pathways & Interactions for NPTXR Gene

SuperPathways for NPTXR Gene

No Data Available

Interacting Proteins for NPTXR Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000327545%0d%0a9606.ENSP00000265634%0d%0a9606.ENSP00000307549%0d%0a
Selected Interacting proteins: O95502-NPTXR_HUMAN ENSP00000327545 for NPTXR Gene via I2D STRING

Gene Ontology (GO) - Biological Process for NPTXR Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NPTXR Gene

Drugs & Compounds for NPTXR Gene

(2) Drugs for NPTXR Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0
cgmp Pharma Activation, Activator 0

(1) Additional Compounds for NPTXR Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with NPTXR: view

Transcripts for NPTXR Gene

mRNA/cDNA for NPTXR Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(212) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NPTXR Gene

Neuronal pentraxin receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NPTXR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPTXR Gene

No ASD Table

Relevant External Links for NPTXR Gene

GeneLoc Exon Structure for
NPTXR
ECgene alternative splicing isoforms for
NPTXR

Expression for NPTXR Gene

mRNA expression in normal human tissues for NPTXR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NPTXR Gene

This gene is overexpressed in Brain - Hippocampus (x8.6), Brain - Anterior cingulate cortex (BA24) (x6.5), Brain - Cortex (x6.0), Brain - Amygdala (x6.0), and Brain - Frontal Cortex (BA9) (x5.2).

Protein differential expression in normal tissues from HIPED for NPTXR Gene

This gene is overexpressed in Cerebrospinal fluid (62.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NPTXR Gene



SOURCE GeneReport for Unigene cluster for NPTXR Gene Hs.91622

genes like me logo Genes that share expression patterns with NPTXR: view

Protein tissue co-expression partners for NPTXR Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NPTXR Gene

Orthologs for NPTXR Gene

This gene was present in the common ancestor of chordates.

Orthologs for NPTXR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NPTXR 35
  • 91.13 (n)
  • 94.3 (a)
NPTXR 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nptxr 35
  • 88.03 (n)
  • 90.47 (a)
Nptxr 16
Npcd 36
  • 59 (a)
OneToMany
Nptxr 36
  • 89 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia NPTXR 35
  • 95.34 (n)
  • 94.33 (a)
NPTXR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nptxr 35
  • 87.85 (n)
  • 90.49 (a)
dog
(Canis familiaris)
Mammalia NPTXR 36
  • 47 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPTXR 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPTXR 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPTXR 36
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPTXR 36
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii nptxrb 35
  • 55.26 (n)
  • 48.36 (a)
nptxra 36
  • 23 (a)
OneToMany
nptxrb 36
  • 31 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3519 35
Species with no ortholog for NPTXR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NPTXR Gene

ENSEMBL:
Gene Tree for NPTXR (if available)
TreeFam:
Gene Tree for NPTXR (if available)

Paralogs for NPTXR Gene

Paralogs for NPTXR Gene

(2) SIMAP similar genes for NPTXR Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NPTXR: view

Variants for NPTXR Gene

Sequence variations from dbSNP and Humsavar for NPTXR Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs713726 -- 38,832,040(+) GAAGA(C/T)CTGCC intron-variant
rs737776 -- 38,833,588(+) CAGAA(A/G)GCGCT intron-variant
rs741977 -- 38,820,296(-) CATAA(A/G)TAGAT utr-variant-3-prime
rs1076116 -- 38,841,832(+) TTTCA(C/G)CTTTT intron-variant
rs1076612 -- 38,834,735(-) CAAGG(C/T)CGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPTXR Gene

Variant ID Type Subtype PubMed ID
nsv915067 CNV Loss 21882294
nsv915068 CNV Loss 21882294
dgv769n67 CNV Gain 20364138
nsv471199 CNV Loss 18288195
nsv915069 CNV Loss 21882294
nsv915070 CNV Loss 21882294
esv2724233 CNV Deletion 23290073
esv2724234 CNV Deletion 23290073
nsv915071 CNV Loss 21882294

Variation tolerance for NPTXR Gene

Residual Variation Intolerance Score: 29.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 32.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NPTXR Gene

HapMap Linkage Disequilibrium report
NPTXR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPTXR Gene

Disorders for NPTXR Gene

MalaCards: The human disease database

(3) MalaCards diseases for NPTXR Gene - From: DISEASES

Disorder Aliases PubMed IDs
paraphimosis
acromesomelic dysplasia, maroteaux type
  • acromesomelic dysplasia maroteaux type
acromesomelic dysplasia
  • acromesomelic dwarfism
- elite association
Search NPTXR in MalaCards View complete list of genes associated with diseases

Relevant External Links for NPTXR

Genetic Association Database (GAD)
NPTXR
Human Genome Epidemiology (HuGE) Navigator
NPTXR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPTXR
genes like me logo Genes that share disorders with NPTXR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPTXR Gene

Publications for NPTXR Gene

  1. Changes of diversity pattern of proteolytic bacteria over time and space in an agricultural soil. (PMID: 18648871) Fuka M.M. … Schloter M. (Microb. Ecol. 2009) 23 67
  2. Neuronal pentraxin receptor in cerebrospinal fluid as a potential biomarker for neurodegenerative diseases. (PMID: 19368810) Yin G.N. … Suk K. (Brain Res. 2009) 23 67
  3. mGluR1/5-dependent long-term depression requires the regulated ectodomain cleavage of neuronal pentraxin NPR by TACE. (PMID: 18367087) Cho R.W. … Worley P.F. (Neuron 2008) 23 67
  4. Interaction of the N-terminal domain of the AMPA receptor GluR4 subunit with the neuronal pentraxin NP1 mediates GluR4 synaptic recruitment. (PMID: 17610819) Sia G.M. … Huganir R.L. (Neuron 2007) 23 67
  5. Purification of NADPH-P450 reductase (NPR) from Xenopus laevis and the developmental change in NPR expression. (PMID: 16483612) Mori T. … Imaoka S. (Life Sci. 2006) 23 67

Products for NPTXR Gene

Sources for NPTXR Gene

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