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NUDT2 nudix hydrolase 2 [ Homo sapiens (human) ]

Gene ID: 318, updated on 7-Dec-2018

Summary

Official Symbol
NUDT2provided by HGNC
Official Full Name
nudix hydrolase 2provided by HGNC
Primary source
HGNC:HGNC:8049
See related
Ensembl:ENSG00000164978 MIM:602852
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APAH1
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 11.6), prostate (RPKM 10.9) and 25 other tissues See more
Orthologs

Genomic context

See NUDT2 in Genome Data Viewer
Location:
9p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (34329506..34343713)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34329504..34343711)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 24 Neighboring gene RNA, U2 small nuclear 50, pseudogene Neighboring gene serpin family H member 1 pseudogene 1 Neighboring gene myogenesis regulating glycosidase (putative) Neighboring gene chromosome 9 open reading frame 24

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10404

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity TAS
Traceable Author Statement
more info
 
bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular response to oxidative stress TAS
Traceable Author Statement
more info
 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]
Names
Ap4A hydrolase 1
Ap4Aase
bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)
diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase
diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase
diadenosine tetraphosphatase
nucleoside diphosphate-linked moiety X motif 2
nudix (nucleoside diphosphate linked moiety X)-type motif 2
nudix motif 2
NP_001152.1
NP_001231319.1
NP_671701.1
NP_671702.1
XP_024303296.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001161.5NP_001152.1  bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

    See identical proteins and their annotated locations for NP_001152.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the full-length transcript. All four variants encode the same protein.
    Source sequence(s)
    AA398857, AL356494, BG825757, BQ007098
    Consensus CDS
    CCDS6552.1
    UniProtKB/Swiss-Prot
    P50583
    Related
    ENSP00000368455.1, ENST00000379158.6
    Conserved Domains (1) summary
    cd03428
    Location:2140
    Ap4A_hydrolase_human_like; Diadenosine tetraphosphate (Ap4A) hydrolase is a member of the Nudix hydrolase superfamily. Ap4A hydrolases are well represented in a variety of prokaryotic and eukaryotic organisms. Phylogenetic analysis reveals two distinct subgroups where plant ...
  2. NM_001244390.1NP_001231319.1  bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

    See identical proteins and their annotated locations for NP_001231319.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate 5' UTR exons compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AA310093, AA398857, BQ007098
    Consensus CDS
    CCDS6552.1
    UniProtKB/Swiss-Prot
    P50583
    Related
    ENSP00000482384.1, ENST00000618590.1
    Conserved Domains (1) summary
    cd03428
    Location:2140
    Ap4A_hydrolase_human_like; Diadenosine tetraphosphate (Ap4A) hydrolase is a member of the Nudix hydrolase superfamily. Ap4A hydrolases are well represented in a variety of prokaryotic and eukaryotic organisms. Phylogenetic analysis reveals two distinct subgroups where plant ...
  3. NM_147172.2NP_671701.1  bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

    See identical proteins and their annotated locations for NP_671701.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site on a 5' non-coding exon, compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AA398857, BG622439, BQ007098
    Consensus CDS
    CCDS6552.1
    UniProtKB/Swiss-Prot
    P50583
    Related
    ENSP00000368452.5, ENST00000379155.9
    Conserved Domains (1) summary
    cd03428
    Location:2140
    Ap4A_hydrolase_human_like; Diadenosine tetraphosphate (Ap4A) hydrolase is a member of the Nudix hydrolase superfamily. Ap4A hydrolases are well represented in a variety of prokaryotic and eukaryotic organisms. Phylogenetic analysis reveals two distinct subgroups where plant ...
  4. NM_147173.2NP_671702.1  bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

    See identical proteins and their annotated locations for NP_671702.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a 5' non-coding exon, compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AA398857, BQ007098, DN992111
    Consensus CDS
    CCDS6552.1
    UniProtKB/Swiss-Prot
    P50583
    Related
    ENSP00000344187.4, ENST00000346365.8
    Conserved Domains (1) summary
    cd03428
    Location:2140
    Ap4A_hydrolase_human_like; Diadenosine tetraphosphate (Ap4A) hydrolase is a member of the Nudix hydrolase superfamily. Ap4A hydrolases are well represented in a variety of prokaryotic and eukaryotic organisms. Phylogenetic analysis reveals two distinct subgroups where plant ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    34329506..34343713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447528.1XP_024303296.1  bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] isoform X1

    Conserved Domains (1) summary
    cd03428
    Location:2140
    Ap4A_hydrolase_human_like; Diadenosine tetraphosphate (Ap4A) hydrolase is a member of the Nudix hydrolase superfamily. Ap4A hydrolases are well represented in a variety of prokaryotic and eukaryotic organisms. Phylogenetic analysis reveals two distinct subgroups where plant ...
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