Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2585
Gene name Gene Name - the full gene name approved by the HGNC.
Galactokinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GALK2
Synonyms (NCBI Gene) Gene synonyms aliases
GK2
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.1-q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT038704 hsa-miR-148a-5p CLASH 23622248
MIRT509609 hsa-miR-548c-3p HITS-CLIP 19536157
MIRT509608 hsa-miR-4668-3p HITS-CLIP 19536157
MIRT509607 hsa-miR-500a-5p HITS-CLIP 19536157
MIRT509606 hsa-miR-3613-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004335 Function Galactokinase activity IBA
GO:0004335 Function Galactokinase activity IDA 7542884
GO:0004335 Function Galactokinase activity IEA
GO:0004335 Function Galactokinase activity TAS 8798585
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137028 4119 ENSG00000156958
Protein
UniProt ID Q01415
Protein name N-acetylgalactosamine kinase (EC 2.7.1.157) (GalNAc kinase) (Galactokinase 2)
Protein function Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates. {ECO:0000269|PubMed:1
PDB 2A2C , 2A2D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10509 GalKase_gal_bdg 24 73 Galactokinase galactose-binding signature Domain
PF00288 GHMP_kinases_N 131 198 GHMP kinases N terminal domain Family
PF08544 GHMP_kinases_C 345 430 GHMP kinases C terminal Family
Sequence
MATESPATRRVQVAEHPRLLKLKEMFNSKFGSIPKFYVRAPGRVNIIGEHIDYCGYSVLP
MAVEQDVLIAVEP
VKTYALQLANTNPLYPDFSTSANNIQIDKTKPLWHNYFLCGLKGIQE
HFGLSNLTGMNCLVDGNIPPSSGLSSSSALVCCAGLVTLTVLGRNLSKVELAEICAKSER
YIGTEGGGMDQSISFLAE
EGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHF
NIRVMECRLAAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEI
CRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEAARVLQFKKICEEAPENMVQLL
GELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSF
LANVHKAYYQ
RSDGSLAPEKQSLFATKPGGGALVLLEA
Sequence length 458
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of nucleotide sugars
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lung adenocarcinoma Lung adenocarcinoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 30503783
Dental Caries Associate 31148553
Glomerulonephritis IGA Associate 22318827
Prostatic Neoplasms Associate 22761715