BPNT2 |
- 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
- 0.79(Read more about gnomAD pLI score)
- LOEUF
- 0.62(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
ClinGen Curation ID:
CCID:006755
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)