BPNT2 (3(2), 5-bisphosphate nucleotidase 2)

2014-11-01 Affiliation

HGNC

BPNT2

LOCATION

8q12.1

LOCUSID

54928

ALIAS

GPAPP,IMP 3,IMP-3,IMPA3,IMPAD1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

dbSNP: 54928
ClinVar: 54928
TCGA: ENSG00000104331
COSMIC: BPNT2

Pathway	Source	External ID
Inositol phosphate metabolism	KEGG	ko00562
Sulfur metabolism	KEGG	ko00920
Phosphatidylinositol signaling system	KEGG	ko04070
Inositol phosphate metabolism	KEGG	hsa00562
Sulfur metabolism	KEGG	hsa00920
Phosphatidylinositol signaling system	KEGG	hsa04070
Metabolic pathways	KEGG	hsa01100
Inositol phosphate metabolism, Ins(1,3,4,5)P4 => Ins(1,3,4)P3 => myo-inositol	KEGG	hsa_M00131
Inositol phosphate metabolism, Ins(1,3,4,5)P4 => Ins(1,3,4)P3 => myo-inositol	KEGG	M00131

Pubmed ID	Year	Title	Citations
21549340	2011	Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.	25
22887726	2012	IMPAD1 mutations in two Catel-Manzke like patients.	7

Dessen P

BPNT2 (3(2), 5-bisphosphate nucleotidase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01