• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BPNT2 (HGNC:26019) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
3'(2'), 5'-bisphosphate nucleotidase 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
IMPAD1
Alias symbols
FLJ20421, IMPA3, gPAPP
%HI
43.21(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
0.84(Read more about gnomAD LOEUF score)
Cytoband
8q12.1
Genomic Coordinates
GRCh37/hg19: chr8:57870490-57906426 NCBI Ensembl UCSC
GRCh38/hg38: chr8:56957931-56993867 NCBI Ensembl UCSC
MANE Select Transcript
NM_017813.5 ENST00000262644.9 (Read more about MANE Select)
Function
Exhibits 3'-nucleotidase activity toward adenosine 3',5'- bisphosphate (PAP), namely hydrolyzes adenosine 3',5'-bisphosphate into adenosine 5'-monophosphate (AMP) and a phosphate. May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation. Has no activity toward 3'-phosphoadenosine 5'-phosphosulfate (PAPS) or inositol phosphate (IP) substr... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19975
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • chondrodysplasia with joint dislocations, gPAPP type Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)