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NUDT22 nudix hydrolase 22 [ Homo sapiens (human) ]

Gene ID: 84304, updated on 23-Nov-2021

Summary

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Official Symbol
NUDT22provided by HGNC
Official Full Name
nudix hydrolase 22provided by HGNC
Primary source
HGNC:HGNC:28189
See related
Ensembl:ENSG00000149761
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in duodenum (RPKM 16.3), spleen (RPKM 14.4) and 25 other tissues See more
Orthologs
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Genomic context

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See NUDT22 in Genome Data Viewer
Location:
11q13.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (64226258..64230016)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63993730..63997488)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene stress induced phosphoprotein 1 Neighboring gene FERM domain containing kindlin 3 Neighboring gene tRNA phosphotransferase 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member C4 Neighboring gene vascular endothelial growth factor B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Human NUDT22 Is a UDP-Glucose/Galactose Hydrolase Exhibiting a Unique Structural Fold. Carter M, et al. Structure, 2018 Feb 6. PMID 29413322
  2. Genome-wide association study of the child behavior checklist dysregulation profile. Mick E, et al. J Am Acad Child Adolesc Psychiatry, 2011 Aug. PMID 21784300, Free PMC Article
  3. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
  4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article

See all (15) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Genome-wide association study of the child behavior checklist dysregulation profile.
GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC13045

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP-mannose hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables UDP-sugar diphosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
uridine diphosphate glucose pyrophosphatase NUDT22
Names
UDPG pyrophosphatase
UGPPase
nucleoside diphosphate-linked moiety X motif 22
nudix (nucleoside diphosphate linked moiety X)-type motif 22
nudix motif 22
NP_001122084.1
NP_001122085.2
NP_001258760.1
NP_115720.2
XP_024304482.1
XP_024304483.1
XP_024304484.1

NCBI Reference Sequences (RefSeq)

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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_001128612.2 → NP_001122084.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform a

    See identical proteins and their annotated locations for NP_001122084.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    BC006129, BG705568
    Consensus CDS
    CCDS8061.1
    UniProtKB/Swiss-Prot
    Q9BRQ3

  2. NM_001128613.3 → NP_001122085.2  uridine diphosphate glucose pyrophosphatase NUDT22 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 3 and 4 both encode isoform b.
    Source sequence(s)
    AP001453, AP006334
    Consensus CDS
    CCDS44640.1
    Related
    ENSP00000407970.2, ENST00000441250.6

  3. NM_001271831.1 → NP_001258760.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform b

    See identical proteins and their annotated locations for NP_001258760.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 3 and 4 both encode isoform b.
    Source sequence(s)
    BC006129, BG705568, BM923060
    Consensus CDS
    CCDS44640.1
    UniProtKB/Swiss-Prot
    Q9BRQ3

  4. NM_032344.4 → NP_115720.2  uridine diphosphate glucose pyrophosphatase NUDT22 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AP001453, AP006334
    Consensus CDS
    CCDS8061.1
    Related
    ENSP00000279206.3, ENST00000279206.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    64226258..64230016
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448716.1 → XP_024304484.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X3

  2. XM_024448715.1 → XP_024304483.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X2

  3. XM_024448714.1 → XP_024304482.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X1

    Related
    ENSP00000401085.2, ENST00000428347.2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BRQ3.3 GenPept UniProtKB/Swiss-Prot:Q9BRQ3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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