• Gene id: 2585

Gene Summary

• Gene Symbol: GALK2   Gene   UCSC   Ensembl
• Aliases: GK2
• Gene name: galactokinase 2
• Alternate names: N-acetylgalactosamine kinase, galNAc kinase,
• Gene location: 15q21.1-q21.2 (49155758: 49367882)     Exons: 19     NC_000015.10
• Gene summary(Entrez): This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multi
• OMIM: 610316

Protein Summary

• Protein general information: Q01415  
  • Name: N acetylgalactosamine kinase (EC 2.7.1.157) (GalNAc kinase) (Galactokinase 2)
  • Length: 458  
  • Mass: 50378
• Sequence:

  MATESPATRRVQVAEHPRLLKLKEMFNSKFGSIPKFYVRAPGRVNIIGEHIDYCGYSVLPMAVEQDVLIAVEPVK
  TYALQLANTNPLYPDFSTSANNIQIDKTKPLWHNYFLCGLKGIQEHFGLSNLTGMNCLVDGNIPPSSGLSSSSAL
  VCCAGLVTLTVLGRNLSKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVI
  ANSCVEMNKAATSHFNIRVMECRLAAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEI
  CRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEAARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMY
  ECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYYQRSDGSLAPEKQSLFATKPGG
  GALVLLEA

• Structural information:
  • Interpro: IPR000705  IPR019741  IPR019539  IPR013750  IPR036554   IPR006204  IPR006203  IPR006206  IPR020568  IPR014721  
  • Prosite: PS00106 PS00627
  • PDB: 2A2C 2A2D
  • PDBsum: 2A2C 2A2D
  • STRING: ENSP00000453129
• Other Databases: GeneCards:  GALK2  Malacards:  GALK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004335	galactokinase activity	IBA	molecular function
GO:0006012	galactose metabolic process	IBA	biological process
GO:0004335	galactokinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005534	galactose binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006012	galactose metabolic process	IEA	biological process
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IEA	molecular function
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004335	galactokinase activity	TAS	molecular function
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0033858	N-acetylgalactosamine kinase activity	IEA	molecular function
GO:0004335	galactokinase activity	IDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq