GNPDA2 (Entrez ID: 132789)

Entrez Gene ID	132789
Official Gene Symbol	GNPDA2 (GeneCards)
Full name	glucosamine-6-phosphate deaminase 2
Location	4p12
Other ids	Vega : OTTHUMG00000099415 MIM : 613222 HGNC : HGNC:21526 Ensembl : ENSG00000163281
Other names	GNP2, SB52
Summary	The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

Variants

Found 21 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
6038	132789	GNPDA2	4	44928509	44928509	Asymptomatic	HiSeq X Ten
6068	132789	GNPDA2	4	44865733	44865733	Asymptomatic	HiSeq X Ten
6101	132789	GNPDA2	4	46007709	46007709	Asymptomatic	HiSeq X Ten HiSeq 2000
6117	132789	GNPDA2	4	45654043	45654043	Asymptomatic	HiSeq X Ten HiSeq 2000
6459	132789	GNPDA2	4	45442159	45442159	Asymptomatic	HiSeq X Ten HiSeq 2000
6460	132789	GNPDA2	4	45534827	45534827	Asymptomatic	HiSeq X Ten HiSeq 2000
6619	132789	GNPDA2	4	45163076	45163076	Asymptomatic	HiSeq X Ten HiSeq 2000
6620	132789	GNPDA2	4	45201053	45201053	Asymptomatic	HiSeq X Ten HiSeq 2000
6642	132789	GNPDA2	4	45800675	45800675	Asymptomatic	HiSeq X Ten HiSeq 2000
6668	132789	GNPDA2	4	45816756	45816756	Asymptomatic	HiSeq X Ten HiSeq 2000
6725	132789	GNPDA2	4	44840162	44840162	Asymptomatic	HiSeq X Ten HiSeq 2000
7357	132789	GNPDA2	4	44823989	44823989	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
7383	132789	GNPDA2	4	44928606	44928606	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
7389	132789	GNPDA2	4	44746975	44746975	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
22844	132789	GNPDA2	4	45717732	45717732	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
22845	132789	GNPDA2	4	45883582	45883582	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25463	132789	GNPDA2	4	45378458	45378458	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25483	132789	GNPDA2	4	45505926	45505926	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25519	132789	GNPDA2	4	45448820	45448820	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25582	132789	GNPDA2	4	45811288	45811288	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25611	132789	GNPDA2	4	45811288	45811288	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning