BPNT2

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]

Description

3'(2'), 5'-bisphosphate nucleotidase 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Golgi apparatus, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

8 (56957931 - 56993867)

Ensembl ID

ENSG00000104331  (ver. 103.38)

Orthologs

Mouse Bpnt2: ENSMUSG00000066324

UniProt

Q9NX62

neXtProt

NX_Q9NX62

Human splice variants
Mouse splice variants

Protein structure