Gene Gene information from NCBI Gene database.
Entrez ID 2585
Gene name Galactokinase 2
Gene symbol GALK2
Synonyms (NCBI Gene)
GK2
Chromosome 15
Chromosome location 15q21.1-q21.2
Summary 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.
174
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137028 4119 ENSG00000156958
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 30503783 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Dental Caries Dental caries Pubtator 31148553 Associate
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis IGA Iga nephropathy Pubtator 22318827 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 22761715 Associate
★☆☆☆☆
Found in Text Mining only