Details for: NUDT2

Gene ID: 318

Symbol: NUDT2

Ensembl ID: ENSG00000164978

Description: nudix hydrolase 2

Associated with

Other Information

Genular Protein ID: 1245584722

Symbol: AP4A_HUMAN

Name: Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

UniProtKB Accession Codes:

P50583 D3DRM0 Q5T589

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 16 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 EPD 1 Ensembl 4 EvolutionaryTrace 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 6 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 Rhea 9 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7487923

Title: Human diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase is a member of the MutT family of nucleotide pyrophosphatases.

PubMed ID: 7487923

DOI: 10.1042/bj3110717

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 15596429

Title: Structure and substrate-binding mechanism of human Ap4A hydrolase.

PubMed ID: 15596429

DOI: 10.1074/jbc.m412318200

PubMed ID: 27431290

Title: Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

PubMed ID: 27431290

DOI: 10.1038/mp.2016.113

PubMed ID: 30059600

Title: A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.

PubMed ID: 30059600

DOI: 10.1111/cge.13386

PubMed ID: 33058507

Title: Novel NUDT2 variant causes intellectual disability and polyneuropathy.

PubMed ID: 33058507

DOI: 10.1002/acn3.51209

Sequence Information:

  • Length: 147
  • Mass: 16829
  • Checksum: 3599B12719F94AB8
  • Sequence:
    • MALRACGLII FRRCLIPKVD NNAIEFLLLQ ASDGIHHWTP PKGHVEPGED DLETALRETQ 
EEAGIEAGQL TIIEGFKREL NYVARNKPKT VIYWLAEVKD YDVEIRLSHE HQAYRWLGLE 
EACQLAQFKE MKAALQEGHQ FLCSIEA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.