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Aliases for NPTXR Gene

Aliases for NPTXR Gene

  • Neuronal Pentraxin Receptor 2 3 5
  • 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 Acromesomelic Dysplasia, Maroteaux Type and Acromesomelic Dysplasia. An important paralog of this gene is NPTX2.

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

Additional gene information for NPTXR Gene

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

Genomics for NPTXR Gene

Regulatory Elements for NPTXR Gene

Enhancers for NPTXR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H039518 2 FANTOM5 Ensembl ENCODE dbSUPER 13.2 -680.4 -680372 12 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZFP41 SSRP1 ENSG00000272834 TAB1 ENSG00000230912 ATF4 ENSG00000228274 RPL3 CBY1 CBX6 SNORD83B CBX7
GH22H039087 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.2 -246.5 -246480 5 HDGF ZSCAN4 GLIS2 ETV6 RUNX3 EGR2 SMARCA5 ZNF341 GLIS1 IKZF1 APOBEC3G APOBEC3H CBX6 NPTXR TAB1 ENSG00000228274 SYNGR1 CSNK1E CBX7 SUN2
GH22H038174 1.8 FANTOM5 ENCODE dbSUPER 13.2 +665.2 665204 8 MLX DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MCM3 NFYC MEF2D DDX17 MAFF ENSG00000228274 CSNK1E ANKRD54 CBY1 ENSG00000230912 PLA2G6 TMEM184B TRIOBP
GH22H038784 1.4 Ensembl ENCODE dbSUPER 14.6 +56.7 56680 5 TBP ATF1 NFRKB YY1 TCF12 GATA2 EGR1 ZNF366 ZSCAN5C SCRT2 ENSG00000228274 NPTXR TAB1 CBY1 ANKRD54 ENSG00000273076 DNAL4 LOC400927 APOBEC3H GC22M041903
GH22H038161 1.5 Ensembl ENCODE dbSUPER 13.2 +679.7 679723 4 HDGF PKNOX1 FOXA2 ARNT ARID4B DMAP1 YY1 TCF12 ZNF121 SLC30A9 CBX6 NPTXR PLA2G6 TMEM184B BAIAP2L2 POLR2F CBX7 PICK1 ENSG00000279080 GC22P038194
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NPTXR on UCSC Golden Path with GeneCards custom track

Promoters for NPTXR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146233 312 1001 TBP RB1 RAD21 GLIS2 ATF7 ZNF398 REST NFIC MTA1 KDM1A

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

Genes around NPTXR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPTXR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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

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 posLast=4242, Asn216, and posLast=463463
  • 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)
  • Santa Cruz Biotechnology (SCBT) Antibodies for NPTXR

No data available for DME Specific Peptides for NPTXR Gene

Domains & Families for NPTXR Gene

Gene Families for NPTXR Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

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

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

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

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.

Phenotypes From GWAS Catalog for NPTXR Gene

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

Clone Products

  • Applied Biological Materials Clones for NPTXR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPTXR gene
Compartment Confidence
endoplasmic reticulum 3
plasma membrane 2
extracellular 2
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

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

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: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:
(2) 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

Clone Products

  • Applied Biological Materials Clones for NPTXR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for NPTXR Gene



Protein tissue co-expression partners for NPTXR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NPTXR Gene:

NPTXR

SOURCE GeneReport for Unigene cluster for NPTXR Gene:

Hs.91622

Evidence on tissue expression from TISSUES for NPTXR Gene

  • Nervous system(4.7)
  • Heart(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with NPTXR: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia NPTXR 33 34
  • 95.34 (n)
cow
(Bos Taurus)
Mammalia NPTXR 33 34
  • 91.13 (n)
mouse
(Mus musculus)
Mammalia Nptxr 33 16 34
  • 88.03 (n)
Npcd 34
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nptxr 33
  • 87.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NPTXR 34
  • 48 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NPTXR 34
  • 47 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPTXR 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPTXR 34
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPTXR 34
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii nptxrb 33 34
  • 55.26 (n)
nptxra 34
  • 23 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3519 33
Species where no ortholog for NPTXR was found in the sources mined by GeneCards:
  • 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
rs1000002129 -- 38,842,385(+) CTGCC(G/T)TGCAC intron-variant
rs1000123646 -- 38,836,563(+) GACTA(C/T)GGTGA intron-variant
rs1000129283 -- 38,820,014(+) GTGCT(A/G)TCACC utr-variant-3-prime
rs1000160567 -- 38,819,791(+) TCCTC(C/T)TTCCC utr-variant-3-prime
rs1000189475 -- 38,835,407(+) GTGGT(A/G)GGCAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv769n67 CNV gain 20364138
esv2724233 CNV deletion 23290073
esv2724234 CNV deletion 23290073
nsv1073162 CNV deletion 25765185
nsv1133541 CNV deletion 24896259
nsv1144972 CNV deletion 24896259
nsv471199 CNV loss 18288195
nsv589009 CNV loss 21841781

Variation tolerance for NPTXR Gene

Residual Variation Intolerance Score: 29.9% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPTXR

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

Disorders for NPTXR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
acromesomelic dysplasia, maroteaux type
  • acromesomelic dysplasia maroteaux type
acromesomelic dysplasia
  • acromesomelic dwarfism
- elite association - COSMIC cancer census association via MalaCards
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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Neuronal pentraxin receptor in cerebrospinal fluid as a potential biomarker for neurodegenerative diseases. (PMID: 19368810) Yin GN … Suk K (Brain research 2009) 3 22 60
  3. Regulation of neuronal type genes in congestive heart failure rats. (PMID: 16497176) Andersson KB … Christensen G (Acta physiologica (Oxford, England) 2006) 2 3 60
  4. Specific sensitivity of small cell lung cancer cell lines to the snake venom toxin taipoxin. (PMID: 16115696) Poulsen TT … Poulsen HS (Lung cancer (Amsterdam, Netherlands) 2005) 3 22 60
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 60

Products for NPTXR Gene

Sources for NPTXR Gene

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