This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in pat... See more...

Aliases for PNP Gene

Aliases for PNP Gene

  • Purine Nucleoside Phosphorylase 2 3 4 5
  • Inosine-Guanosine Phosphorylase 3 4
  • Inosine Phosphorylase 3 4
  • EC 2.4.2.1 4 50
  • PUNP 2 3
  • NP 3 4
  • Epididymis Secretory Sperm Binding Protein Li 156an 3
  • Purine-Nucleoside:Orthophosphate Ribosyltransferase 3
  • Nucleoside Phosphorylase 2
  • HEL-S-156an 3
  • PRO1837 3
  • PNP 5

External Ids for PNP Gene

Previous HGNC Symbols for PNP Gene

  • NP

Previous GeneCards Identifiers for PNP Gene

  • GC14P020008
  • GC14P021021
  • GC14P001059

Summaries for PNP Gene

Entrez Gene Summary for PNP Gene

  • This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]

GeneCards Summary for PNP Gene

PNP (Purine Nucleoside Phosphorylase) is a Protein Coding gene. Diseases associated with PNP include Purine Nucleoside Phosphorylase Deficiency and Adenosine Deaminase Deficiency. Among its related pathways are purine nucleotides de novo biosynthesis and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include drug binding and nucleoside binding. An important paralog of this gene is MTAP.

UniProtKB/Swiss-Prot Summary for PNP Gene

  • Catalyzes the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate (PubMed:9305964, PubMed:23438750). Preferentially acts on 6-oxopurine nucleosides including inosine and guanosine (PubMed:9305964).

Gene Wiki entry for PNP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNP Gene

Genomics for PNP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PNP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNP

Genomic Locations for PNP Gene

Latest Assembly
chr14:20,468,954-20,477,089
(GRCh38/hg38)
Size:
8,136 bases
Orientation:
Plus strand

Previous Assembly
chr14:20,937,565-20,945,248
(GRCh37/hg19 by Entrez Gene)
Size:
7,684 bases
Orientation:
Plus strand

chr14:20,937,113-20,945,253
(GRCh37/hg19 by Ensembl)
Size:
8,141 bases
Orientation:
Plus strand

Genomic View for PNP Gene

Genes around PNP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNP Gene

Proteins for PNP Gene

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

    Protein Symbol:
    P00491-PNPH_HUMAN
    Recommended name:
    Purine nucleoside phosphorylase
    Protein Accession:
    P00491
    Secondary Accessions:
    • B2R8S5
    • D3DS00
    • Q15160
    • Q5PZ03

    Protein attributes for PNP Gene

    Size:
    289 amino acids
    Molecular mass:
    32118 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for PNP Gene

neXtProt entry for PNP Gene

Selected DME Specific Peptides for PNP Gene

P00491:
  • RFPAMSDAYDR
  • VVTNAAGGLN
  • KVTFPVRV
  • DAVGMSTVPEVIVA

Post-translational modifications for PNP Gene

  • Ubiquitination at Lys22, Lys95, Lys179, and Lys211
  • Modification sites at PhosphoSitePlus

Other Protein References for PNP Gene

Antibodies for research

Domains & Families for PNP Gene

Gene Families for PNP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PNP Gene

Suggested Antigen Peptide Sequences for PNP Gene

GenScript: Design optimal peptide antigens:
  • Inosine phosphorylase (PNPH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00491

UniProtKB/Swiss-Prot:

PNPH_HUMAN :
  • Belongs to the PNP/MTAP phosphorylase family.
Family:
  • Belongs to the PNP/MTAP phosphorylase family.
genes like me logo Genes that share domains with PNP: view

Function for PNP Gene

Molecular function for PNP Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate (PubMed:9305964, PubMed:23438750). Preferentially acts on 6-oxopurine nucleosides including inosine and guanosine (PubMed:9305964).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=inosine + phosphate = alpha-D-ribose 1-phosphate + hypoxanthine; Xref=Rhea:RHEA:27646, ChEBI:CHEBI:17368, ChEBI:CHEBI:17596, ChEBI:CHEBI:43474, ChEBI:CHEBI:57720; EC=2.4.2.1; Evidence={ECO:0000269|PubMed:23438750, ECO:0000269|PubMed:9305964};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=guanosine + phosphate = alpha-D-ribose 1-phosphate + guanine; Xref=Rhea:RHEA:13233, ChEBI:CHEBI:16235, ChEBI:CHEBI:16750, ChEBI:CHEBI:43474, ChEBI:CHEBI:57720; EC=2.4.2.1; Evidence={ECO:0000269|PubMed:9305964};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2'-deoxyguanosine + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + guanine; Xref=Rhea:RHEA:27738, ChEBI:CHEBI:16235, ChEBI:CHEBI:17172, ChEBI:CHEBI:43474, ChEBI:CHEBI:57259; EC=2.4.2.1; Evidence={ECO:0000250|UniProtKB:P23492};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2'-deoxyinosine + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + hypoxanthine; Xref=Rhea:RHEA:27750, ChEBI:CHEBI:17368, ChEBI:CHEBI:28997, ChEBI:CHEBI:43474, ChEBI:CHEBI:57259; EC=2.4.2.1; Evidence={ECO:0000250|UniProtKB:P23492};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=45 uM for inosine (at 30 degrees Celsius and pH 7) {ECO:0000269|PubMed:9305964}; KM=68 uM for inosine (at 25 degrees Celsius and pH 7.4) {ECO:0000269|PubMed:23438750}; KM=10 uM for hypoxanthine (at 30 degrees Celsius and pH 7) {ECO:0000269|PubMed:9305964}; KM=6 uM for guanosine (at 30 degrees Celsius and pH 7) {ECO:0000269|PubMed:9305964}; KM=12 uM for guanine (at 30 degrees Celsius and pH 7) {ECO:0000269|PubMed:9305964}; KM=650 uM for adenosine (at 30 degrees Celsius and pH 7) {ECO:0000269|PubMed:9305964}; KM=440 uM for adenine (at 30 degrees Celsius and pH 7) {ECO:0000269|PubMed:9305964}; Note=kcat is 57 sec(-1) with inosine as substrate (PubMed:9305964). kcat is 47 sec(-1) with inosine as substrate (PubMed:23438750). kcat is 70 sec(-1) with hypoxanthine as substrate (PubMed:9305964). kcat is 28 sec(-1) with guanosine as substrate (PubMed:9305964). kcat is 48 sec(-1) with guanine as substrate (PubMed:9305964). kcat is 0.0024 sec(-1) with adenosine as substrate (PubMed:9305964). kcat is 0.31 sec(-1) with adenine as substrate (PubMed:9305964). {ECO:0000269|PubMed:23438750, ECO:0000269|PubMed:9305964};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 5'-deaza-1'-aza-2c-deoxy-1'-(9-methylene)-Immucilin-G (DADMe-ImmG).

Enzyme Numbers (IUBMB) for PNP Gene

Phenotypes From GWAS Catalog for PNP Gene

Gene Ontology (GO) - Molecular Function for PNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001882 nucleoside binding IDA 9305962
GO:0002060 purine nucleobase binding IDA 9305962
GO:0003824 catalytic activity IEA --
GO:0004731 purine-nucleoside phosphorylase activity IEA,IDA 3029074
GO:0005515 protein binding IPI 32814053
genes like me logo Genes that share ontologies with PNP: view
genes like me logo Genes that share phenotypes with PNP: view

Human Phenotype Ontology for PNP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PNP Gene

MGI Knock Outs for PNP:
  • Pnp Pnp<tm1Cmr>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNP

No data available for Transcription Factor Targets and HOMER Transcription for PNP Gene

Localization for PNP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNP Gene

Cytoplasm.

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 PNP gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 4
nucleus 4
plasma membrane 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA,IDA 3029074
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PNP: view

Pathways & Interactions for PNP Gene

genes like me logo Genes that share pathways with PNP: view

Pathways by source for PNP Gene

UniProtKB/Swiss-Prot P00491-PNPH_HUMAN

  • Pathway: Purine metabolism; purine nucleoside salvage.

Gene Ontology (GO) - Biological Process for PNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA,IDA 3029074
GO:0006148 inosine catabolic process IDA 16964310
GO:0006195 purine nucleotide catabolic process TAS --
GO:0006738 nicotinamide riboside catabolic process IDA 19001417
GO:0006955 immune response IMP 16930574
genes like me logo Genes that share ontologies with PNP: view

No data available for SIGNOR curated interactions for PNP Gene

Drugs & Compounds for PNP Gene

(69) Drugs for PNP Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Didanosine Approved Pharma Target, substrate 151
Adenosine Approved, Investigational Pharma Enzyme, substrate 664
Cladribine Approved, Investigational Pharma Target, inducer Apoptosis inducer in CLL cells 117
Adenine Approved Nutra 0
Nicotinamide Approved, Investigational Pharma 474,474

(57) Additional Compounds for PNP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
deoxyadenosine
  • (2R,3S,5R)-5-(6-Amino-9H-purin-9-yl)-2-(hydroxymethyl)tetrahydrofuran-3-ol
  • 5-(6-AMINO-purin-9-yl)-2-hydroxymethyl-tetrahydro-furan-3-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)adenine
  • 9-(2-Deoxy-beta-D-ribofuranosyl)-9H-purin-6-amine
  • Adenine deoxyribonucleoside
958-09-8
deoxyguanosine
  • 2-Amino-9-(2-deoxy-9-beta-D-ribofuranosyl)-9H-purin-6-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)-guanine
  • dG
  • Guanine deoxy nucleoside
  • 2'-Deoxyguanosine
961-07-9
purine
  • Purine base
  • 1H-Purine
  • 6H-Imidazo[4,5-D]pyrimidine
  • 7-Methyltheophylline
  • 7H-Imidazo(4,5-D)pyrimidine
120-73-0
ribose 1-phosphate
  • 1-O-Phosphono-alpha-D-ribofuranose
  • 1-Phospho-alpha-D-ribofuranose
  • D-Ribose 1-phosphate
  • 1-O-Phosphono-a-D-ribofuranose
  • 1-O-Phosphono-α-D-ribofuranose
14075-00-4
xanthosine
  • 9-beta-D-Ribofuranosyl-3,9-dihydro-1H-purine-2,6-dione
  • 9-beta-D-Ribofuranosylxanthine
  • Xanthine 9-beta-D-ribofuranoside
  • Xanthine riboside
  • 9-b-D-Ribofuranosyl-3,9-dihydro-1H-purine-2,6-dione
146-80-5
genes like me logo Genes that share compounds with PNP: view

Transcripts for PNP Gene

mRNA/cDNA for PNP Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNP

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

No ASD Table

Relevant External Links for PNP Gene

GeneLoc Exon Structure for
PNP

Expression for PNP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PNP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for PNP Gene

This gene is overexpressed in Platelet (6.1).

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



Protein tissue co-expression partners for PNP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNP

SOURCE GeneReport for Unigene cluster for PNP Gene:

Hs.75514

mRNA Expression by UniProt/SwissProt for PNP Gene:

P00491-PNPH_HUMAN
Tissue specificity: Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.

Evidence on tissue expression from TISSUES for PNP Gene

  • Blood(4.7)
  • Liver(4.6)
  • Nervous system(3.5)
  • Intestine(3.1)
  • Bone marrow(2.9)
  • Kidney(2.8)
  • Lung(2.8)
  • Spleen(2.4)
  • Skin(2.3)
  • Lymph node(2.3)
  • Heart(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PNP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • larynx
  • middle ear
  • neck
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • kidney
  • spleen
Pelvis:
  • ureter
  • urethra
  • urinary bladder
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with PNP: view

Primer products for research

Orthologs for PNP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PNP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PNP 29 30
  • 99.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 30
  • 88 (a)
OneToMany
PNP 29 30
  • 87.91 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Pnp 29
  • 84.78 (n)
Mouse
(Mus musculus)
Mammalia Pnp 29 16 30
  • 84.2 (n)
OneToMany
Pnp2 16 30
  • 78 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia PNP 29 30
  • 82.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 74 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
-- 30
  • 71 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
-- 30
  • 68 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia PNP 30
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PNP 29 30
  • 62.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PNP 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pnp 29
  • 63.24 (n)
Str.8263 29
Zebrafish
(Danio rerio)
Actinopterygii pnp6 30
  • 64 (a)
OneToMany
pnp5a 30
  • 61 (a)
OneToMany
pnp4a 30
  • 59 (a)
OneToMany
pnp5b 30
  • 56 (a)
OneToMany
pnp4b 30
  • 55 (a)
OneToMany
wufc27g06 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005945 29
  • 55.91 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG16758 29 30
  • 55.36 (n)
OneToMany
CG18128 30
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea K02D7.1 29 30
  • 50.19 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNP1 29 30 32
  • 54.81 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR198W 29
  • 52.75 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16621g 29
  • 51.55 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1805.16c 29
  • 53.86 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7856 30
  • 51 (a)
OneToOne
Species where no ortholog for PNP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for PNP Gene

ENSEMBL:
Gene Tree for PNP (if available)
TreeFam:
Gene Tree for PNP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNP: view image
Alliance of Genome Resources:
Additional Orthologs for PNP

Paralogs for PNP Gene

Paralogs for PNP Gene

Pseudogenes.org Pseudogenes for PNP Gene

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

Variants for PNP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNP Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1000043 Uncertain Significance: Purine-nucleoside phosphorylase deficiency 20,476,432(+) G/A
NM_000270.4(PNP):c.701G>A (p.Arg234Gln)
MISSENSE
1004990 Uncertain Significance: Purine-nucleoside phosphorylase deficiency 20,475,183(+) G/A
NM_000270.4(PNP):c.583G>A (p.Val195Met)
MISSENSE
1006027 Uncertain Significance: Purine-nucleoside phosphorylase deficiency 20,475,073(+) G/C
NM_000270.4(PNP):c.473G>C (p.Arg158Pro)
MISSENSE
1006121 Uncertain Significance: Purine-nucleoside phosphorylase deficiency 20,469,528(+) G/C
NM_000270.4(PNP):c.4G>C (p.Glu2Gln)
MISSENSE
1007790 Uncertain Significance: Purine-nucleoside phosphorylase deficiency 20,475,099(+) G/A
NM_000270.4(PNP):c.499G>A (p.Asp167Asn)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PNP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv23438 CNV gain+loss 19812545

Variation tolerance for PNP Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.04; 84.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNP Gene

Human Gene Mutation Database (HGMD)
PNP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNP
Leiden Open Variation Database (LOVD)
PNP

SNP Genotyping and Copy Number Assays for research

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

Disorders for PNP Gene

MalaCards: The human disease database

(23) MalaCards diseases for PNP Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
purine nucleoside phosphorylase deficiency
  • nucleoside phosphorylase deficiency
adenosine deaminase deficiency
  • ada
lesch-nyhan syndrome
  • lns
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
- elite association - COSMIC cancer census association via MalaCards
Search PNP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PNPH_HUMAN
  • Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]: A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment. {ECO:0000269 PubMed:1384322, ECO:0000269 PubMed:3029074, ECO:0000269 PubMed:8931706}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PNP

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PNP: view

No data available for Genatlas for PNP Gene

Publications for PNP Gene

  1. Structures of human purine nucleoside phosphorylase complexed with inosine and ddI. (PMID: 14706628) Canduri F … Santos DS (Biochemical and biophysical research communications 2004) 3 4 22
  2. Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans. (PMID: 12928150) Yu L … Klimecki WT (Environmental health perspectives 2003) 3 4 22
  3. Purine nucleoside phosphorylase. 3. Reversal of purine base specificity by site-directed mutagenesis. (PMID: 9305964) Stoeckler JD … Erion MD (Biochemistry 1997) 3 4 22
  4. Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. (PMID: 8931706) Pannicke U … Schwarz K (Human genetics 1996) 3 4 22
  5. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (PMID: 1384322) Aust MR … Markert ML (American journal of human genetics 1992) 3 4 22

Products for PNP Gene