This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotid... See more...

Aliases for NUDT2 Gene

Aliases for NUDT2 Gene

  • Nudix Hydrolase 2 2 3 5
  • Diadenosine Tetraphosphatase 2 3 4
  • Ap4Aase 2 3 4
  • Diadenosine 5',5'''-P1,P4-Tetraphosphate Asymmetrical Hydrolase 3 4
  • Diadenosine 5',5''-P1,P4-Tetraphosphate Pyrophosphohydrolase 2 3
  • Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif 2 2 3
  • Bis(5'-Nucleosyl)-Tetraphosphatase (Asymmetrical) 2 3
  • Bis(5'-Nucleosyl)-Tetraphosphatase [Asymmetrical] 3 4
  • Nucleoside Diphosphate-Linked Moiety X Motif 2 3 4
  • Ap4A Hydrolase 1 2 3
  • Nudix Motif 2 3 4
  • EC 3.6.1.17 4 51
  • APAH1 3 4
  • Ap4A Hydrolase 4
  • NUDT2 5

External Ids for NUDT2 Gene

Previous HGNC Symbols for NUDT2 Gene

  • APAH1

Previous GeneCards Identifiers for NUDT2 Gene

  • GC09P034641
  • GC09P034499
  • GC09P034319
  • GC09P034284

Summaries for NUDT2 Gene

Entrez Gene Summary for NUDT2 Gene

  • This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

GeneCards Summary for NUDT2 Gene

NUDT2 (Nudix Hydrolase 2) is a Protein Coding gene. Among its related pathways are Detoxification of Reactive Oxygen Species and Metabolism. Gene Ontology (GO) annotations related to this gene include GTP binding and bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity.

UniProtKB/Swiss-Prot Summary for NUDT2 Gene

  • Asymmetrically hydrolyzes Ap4A to yield AMP and ATP. Plays a major role in maintaining homeostasis.

Gene Wiki entry for NUDT2 Gene

Additional gene information for NUDT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUDT2 Gene

Genomics for NUDT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NUDT2 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 NUDT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUDT2

Top Transcription factor binding sites by QIAGEN in the NUDT2 gene promoter:
  • CBF(2)
  • Egr-4
  • FOXC1
  • GR
  • GR-alpha
  • GR-beta
  • HFH-1
  • HNF-1
  • HNF-1A
  • NF-Y

Genomic Locations for NUDT2 Gene

Genomic Locations for NUDT2 Gene
chr9:34,329,506-34,343,713
(GRCh38/hg38)
Size:
14,208 bases
Orientation:
Plus strand
chr9:34,329,504-34,343,709
(GRCh37/hg19)
Size:
14,206 bases
Orientation:
Plus strand

Genomic View for NUDT2 Gene

Genes around NUDT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUDT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUDT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUDT2 Gene

Proteins for NUDT2 Gene

  • Protein details for NUDT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50583-AP4A_HUMAN
    Recommended name:
    Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]
    Protein Accession:
    P50583
    Secondary Accessions:
    • D3DRM0
    • Q5T589

    Protein attributes for NUDT2 Gene

    Size:
    147 amino acids
    Molecular mass:
    16829 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for NUDT2 Gene

neXtProt entry for NUDT2 Gene

Selected DME Specific Peptides for NUDT2 Gene

P50583:
  • TALRETQEE
  • VIYWLAEVKD
  • EHQAYRWL
  • LQEGHQFLCS
  • IEFLLLQAS

Post-translational modifications for NUDT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NUDT2 Gene

Antibody Products

  • Abcam antibodies for NUDT2
  • Boster Bio Antibodies for NUDT2

Domains & Families for NUDT2 Gene

Gene Families for NUDT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NUDT2 Gene

InterPro:
Blocks:
  • NUDIX hydrolase
  • Bis(5'-nucleosyl)-tetraphosphatase signature
ProtoNet:

Suggested Antigen Peptide Sequences for NUDT2 Gene

GenScript: Design optimal peptide antigens:
  • Nucleoside diphosphate-linked moiety X motif 2 (AP4A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50583

UniProtKB/Swiss-Prot:

AP4A_HUMAN :
  • Belongs to the Nudix hydrolase family.
Family:
  • Belongs to the Nudix hydrolase family.
genes like me logo Genes that share domains with NUDT2: view

Function for NUDT2 Gene

Molecular function for NUDT2 Gene

UniProtKB/Swiss-Prot Function:
Asymmetrically hydrolyzes Ap4A to yield AMP and ATP. Plays a major role in maintaining homeostasis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + P(1),P(4)-bis(5'-guanosyl) tetraphosphate = GMP + GTP + 2 H(+); Xref=Rhea:RHEA:22484, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:57553, ChEBI:CHEBI:58115; EC=3.6.1.17;.
GENATLAS Biochemistry:
nudix (nucleoside diphosphate linked moiety X)-type motif 2,hydrolase,putative mouse cleaning gene whose functions is to cleanse the cell of potentially deleterious endogenous metabolites and to modulate the accumulation of intermediates in biochemical pathways

Enzyme Numbers (IUBMB) for NUDT2 Gene

Phenotypes From GWAS Catalog for NUDT2 Gene

Gene Ontology (GO) - Molecular Function for NUDT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004081 bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IEA --
GO:0008796 bis(5'-nucleosyl)-tetraphosphatase activity IEA --
genes like me logo Genes that share ontologies with NUDT2: view
genes like me logo Genes that share phenotypes with NUDT2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NUDT2

CRISPR Products

miRNA for NUDT2 Gene

miRTarBase miRNAs that target NUDT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUDT2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NUDT2 Gene

Localization for NUDT2 Gene

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 NUDT2 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NUDT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with NUDT2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NUDT2 Gene

Pathways & Interactions for NUDT2 Gene

genes like me logo Genes that share pathways with NUDT2: view

Pathways by source for NUDT2 Gene

Gene Ontology (GO) - Biological Process for NUDT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 7487923
GO:0006915 apoptotic process ISS 11937063
GO:0034599 cellular response to oxidative stress TAS --
genes like me logo Genes that share ontologies with NUDT2: view

No data available for SIGNOR curated interactions for NUDT2 Gene

Drugs & Compounds for NUDT2 Gene

(7) Drugs for NUDT2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine monophosphate Experimental Pharma 0

(6) Additional Compounds for NUDT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diadenosine tetraphosphate
  • (PpA)2
  • a(5')P4(5')a
  • AppppA
  • Bis(5'-adenylyl) diphosphate
  • P1,P4-Bis(5'-adenosyl) tetraphosphate
5542-28-9
Diguanosine tetraphosphate
  • (PPG)2
  • Bis(5'-guanosyl) tetraphosphate
  • Bis(guanylyl) diphosphate
  • g(5')P4(5')g
  • GP4g
4130-19-2
P1,P4-Bis(5'-uridyl) tetraphosphate
  • Diquafosol
  • P1,P4-Bis(5'-uridyl) tetrahydrogen tetraphosphate
  • P1,P4-Bis(5'-uridyl) tetraphosphoric acid
  • P1,P4-Bis(5'-uridyl) tetrahydrogen tetraphosphoric acid
  • UppppU
P1,P4-Bis(5'-xanthosyl) tetraphosphate
  • XPPPPX
  • P1,P4-Bis(5'-xanthosyl) tetraphosphoric acid
Xanthosine 5-triphosphate
  • O(5')-(Tetrahydroxytriphosphoryl)xanthosine
  • Triphopsphoric acid 1-xanthosin-5'-yl ester
  • Xanthosine 5'-triphosphate
  • Xanthosine triphosphate
  • Xanthosine 5-triphosphoric acid
6253-56-1
genes like me logo Genes that share compounds with NUDT2: view

Transcripts for NUDT2 Gene

mRNA/cDNA for NUDT2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUDT2

Alternative Splicing Database (ASD) splice patterns (SP) for NUDT2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e
SP1: -
SP2: - -
SP3:
SP4: - - -
SP5: - - - -

Relevant External Links for NUDT2 Gene

GeneLoc Exon Structure for
NUDT2

Expression for NUDT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUDT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUDT2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.4) and Oral epithelium (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUDT2 Gene



Protein tissue co-expression partners for NUDT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUDT2

SOURCE GeneReport for Unigene cluster for NUDT2 Gene:

Hs.731743

Evidence on tissue expression from TISSUES for NUDT2 Gene

  • Liver(4.4)
  • Pancreas(4.2)
  • Spleen(4.2)
  • Nervous system(3.7)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with NUDT2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUDT2 Gene

Orthologs for NUDT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUDT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NUDT2 30 31
  • 99.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NUDT2 30 31
  • 91.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NUDT2 30 31
  • 90.05 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nudt2 30 17 31
  • 89.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nudt2 30
  • 88.89 (n)
Oppossum
(Monodelphis domestica)
Mammalia NUDT2 31
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NUDT2 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NUDT2 30 31
  • 67.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NUDT2 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nudt2 30
  • 66.67 (n)
Str.1563 30
Zebrafish
(Danio rerio)
Actinopterygii nudt2 30 31
  • 62.35 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Apf 30 31
  • 57.39 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008495 30
  • 55.73 (n)
Worm
(Caenorhabditis elegans)
Secernentea ndx-4 30 31
  • 55.31 (n)
OneToOne
Species where no ortholog for NUDT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 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)
  • Wheat (Triticum aestivum)

Evolution for NUDT2 Gene

ENSEMBL:
Gene Tree for NUDT2 (if available)
TreeFam:
Gene Tree for NUDT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUDT2: view image

Paralogs for NUDT2 Gene

No data available for Paralogs for NUDT2 Gene

Variants for NUDT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUDT2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
689658 Likely Pathogenic: NUDT2-associated condition 34,343,180(+) GA/G FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for NUDT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NUDT2 Gene

Variant ID Type Subtype PubMed ID
esv2738387 CNV deletion 23290073
esv2738388 CNV deletion 23290073
esv3620335 CNV gain 21293372
nsv1015595 CNV gain 25217958
nsv1016251 CNV gain 25217958
nsv1125318 OTHER inversion 24896259
nsv831542 CNV gain 17160897

Variation tolerance for NUDT2 Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUDT2 Gene

Human Gene Mutation Database (HGMD)
NUDT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUDT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUDT2 Gene

Disorders for NUDT2 Gene

Additional Disease Information for NUDT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for NUDT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NUDT2 Gene

Publications for NUDT2 Gene

  1. Structure and substrate-binding mechanism of human Ap4A hydrolase. (PMID: 15596429) Swarbrick JD … Gooley PR (The Journal of biological chemistry 2005) 3 4 23
  2. Chromosomal localization of the human diadenosine 5',5"'-P1,P4-tetraphosphate pyrophosphohydrolase (Ap4A hydrolase) gene (APAH1) to 9p13. (PMID: 9479504) McLennan AG … Ridanpää M (Genomics 1998) 2 3 23
  3. Human diadenosine 5',5"'-P1,P4-tetraphosphate pyrophosphohydrolase is a member of the MutT family of nucleotide pyrophosphatases. (PMID: 7487923) Thorne NM … McLennan AG (The Biochemical journal 1995) 2 3 4
  4. SARS coronavirus protein 7a interacts with human Ap4A-hydrolase. (PMID: 20144233) Vasilenko N … Zakhartchouk A (Virology journal 2010) 3 23
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for NUDT2 Gene

Sources for NUDT2 Gene