Seroatlas · Human Serome Atlas

BPNT2

Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase

Also known as: FLJ20421, gPAPP, IMPA3, IMPA3_HUMAN, IMPAD1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NX62
Gene: BPNT2
Ensembl: ENSG00000104331
Chromosome: 8
Canonical length: 359 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Golgi apparatus,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

359 residues, UniProt reviewed canonical sequence.

>Q9NX62|BPNT2
     1  MAPMGIRLSP LGVAVFCLLG LGVLYHLYSG FLAGRFSLFG LGGEPGGGAA GPAAAADGGT
    61  VDLREMLAVS VLAAVRGGDE VRRVRESNVL HEKSKGKTRE GAEDKMTSGD VLSNRKMFYL
   121  LKTAFPSVQI NTEEHVDAAD QEVILWDHKI PEDILKEVTT PKEVPAESVT VWIDPLDATQ
   181  EYTEDLRKYV TTMVCVAVNG KPMLGVIHKP FSEYTAWAMV DGGSNVKARS SYNEKTPRIV
   241  VSRSHSGMVK QVALQTFGNQ TTIIPAGGAG YKVLALLDVP DKSQEKADLY IHVTYIKKWD
   301  ICAGNAILKA LGGHMTTLSG EEISYTGSDG IEGGLLASIR MNHQALVRKL PDLEKTGHK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BPNT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 35 nTPM

Expression across tissuesHPA

Tissue

adipose tissue: 35 nTPM
adrenal gland: 35 nTPM
skeletal muscle: 35 nTPM
liver: 34 nTPM
parathyroid gland: 33 nTPM
blood vessel: 30 nTPM

Single-cell type

extravillous trophoblasts: 132 nCPM
corticotrophs: 84 nCPM
hepatocytes: 81 nCPM
pancreatic acinar cells: 79 nCPM
alveolar cells type 1: 79 nCPM
prostatic glandular cells: 71 nCPM

Immune cell

NK-cell: 3.1 nTPM
non-classical monocyte: 2.6 nTPM
neutrophil: 1.7 nTPM
basophil: 1.4 nTPM
naive CD8 T-cell: 1 nTPM
gdT-cell: 0.9 nTPM

Brain region

white matter: 77 nTPM
basal ganglia: 60 nTPM
cerebellum: 59 nTPM
pons: 58 nTPM
thalamus: 57 nTPM
midbrain: 57 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BPNT2.

Disease | AllUniProt

Conditions BPNT2 is implicated in, by any mechanism.

Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) MIM:614078

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 315 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Chondrodysplasia with joint dislocations, gPAPP type

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.84
gnomAD pLI: 0.02
DepMap mean gene effect: 0.01
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

3'(2'),5'-bisphosphate nucleotidase activity
metal ion binding
3',5'-nucleotide bisphosphate phosphatase activity
3'-nucleotidase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BPNT2 as an antibody target. Whether an autoantibody or antibody against BPNT2 could matter depends on whether native BPNT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BPNT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BPNT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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