NUDT4B

nudix hydrolase 4B

Basic information

Region (hg38): 1:148748774-148752415

Previous symbols: [ "NUDT4P1" ]

Links

ENSG00000177144

∙ NCBI:440672 ∙ ∙ HGNC:18012 ∙ Uniprot:A0A024RBG1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NUDT4B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NUDT4B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA. {ECO:0000250|UniProtKB:Q9NZJ9}.;
Pathway: Metabolism;Synthesis of pyrophosphates in the cytosol;Inositol phosphate metabolism (Consensus)

Gene ontology

Biological process
Cellular component: cytosol
Molecular function: RNA binding;diphosphoinositol-polyphosphate diphosphatase activity;metal ion binding;inositol diphosphate tetrakisphosphate diphosphatase activity;inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity;inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity;inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity;inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity;inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity;inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity