• Gene id: 132789

Gene Summary

• Gene Symbol: GNPDA2   Gene   UCSC   Ensembl
• Aliases: GNP2, SB52
• Gene name: glucosamine-6-phosphate deaminase 2
• Alternate names: glucosamine-6-phosphate isomerase 2, glcN6P deaminase 2, glucosamine-6-phosphate isomerase SB52,
• Gene location: 4p12 (44726633: 44701794)     Exons: 4     NC_000004.12
• Gene summary(Entrez): 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 bod
• OMIM: 613222

Protein Summary

• Protein general information: Q8TDQ7  
  • Name: Glucosamine 6 phosphate isomerase 2 (EC 3.5.99.6) (Glucosamine 6 phosphate deaminase 2) (GNPDA 2) (GlcN6P deaminase 2) (Glucosamine 6 phosphate isomerase SB52)
  • Length: 276  
  • Mass: 31085
• Sequence:

  MRLVILDNYDLASEWAAKYICNRIIQFKPGQDRYFTLGLPTGSTPLGCYKKLIEYHKNGHLSFKYVKTFNMDEYV
  GLPRNHPESYHSYMWNNFFKHIDIDPNNAHILDGNAADLQAECDAFENKIKEAGGIDLFVGGIGPDGHIAFNEPG
  SSLVSRTRLKTLAMDTILANAKYFDGDLSKVPTMALTVGVGTVMDAREVMILITGAHKAFALYKAIEEGVNHMWT
  VSAFQQHPRTIFVCDEDATLELRVKTVKYFKGLMHVHNKLVDPLFSMKDGN

• Structural information:
  • Interpro: IPR006148  IPR004547  IPR018321  IPR037171  
  • Prosite: PS01161
  • CDD: cd01399
  • DIP: 62122
  • STRING: ENSP00000295448
• Other Databases: GeneCards:  GNPDA2  Malacards:  GNPDA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019262	N-acetylneuraminate catabolic process	IBA	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IBA	biological process
GO:0006043	glucosamine catabolic process	IBA	biological process
GO:0004342	glucosamine-6-phosphate deaminase activity	IBA	molecular function
GO:0042802	identical protein binding	IBA	molecular function
GO:0006046	N-acetylglucosamine catabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004342	glucosamine-6-phosphate deaminase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006044	N-acetylglucosamine metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004342	glucosamine-6-phosphate deaminase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006043	glucosamine catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
19478329	Azoospermia, Oligozoospermia	rs4343755, rs4695097	Caucasi an	47 cases	Male infertility	GWAS