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Aliases for GALK2 Gene

Aliases for GALK2 Gene

  • Galactokinase 2 2 3 4 5
  • GalNAc Kinase 3 4
  • EC 2.7.1.157 4 63
  • GK2 3 4
  • EC 2.7.1 63

External Ids for GALK2 Gene

Previous GeneCards Identifiers for GALK2 Gene

  • GC15P045019
  • GC15P042493
  • GC15P047027
  • GC15P047164
  • GC15P047235
  • GC15P049447
  • GC15P026280

Summaries for GALK2 Gene

Entrez Gene Summary for GALK2 Gene

  • This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]

GeneCards Summary for GALK2 Gene

GALK2 (Galactokinase 2) is a Protein Coding gene. Diseases associated with GALK2 include galactokinase deficiency with cataracts. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include galactokinase activity and N-acetylgalactosamine kinase activity. An important paralog of this gene is GALK1.

UniProtKB/Swiss-Prot for GALK2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALK2 Gene

Genomics for GALK2 Gene

Regulatory Elements for GALK2 Gene

Promoters for GALK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GALK2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GALK2 Gene

Chromosome:
15
Start:
49,155,656 bp from pter
End:
49,367,894 bp from pter
Size:
212,239 bases
Orientation:
Plus strand

Genomic View for GALK2 Gene

Genes around GALK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALK2 Gene

Proteins for GALK2 Gene

  • Protein details for GALK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01415-GALK2_HUMAN
    Recommended name:
    N-acetylgalactosamine kinase
    Protein Accession:
    Q01415
    Secondary Accessions:
    • Q7Z4Q4

    Protein attributes for GALK2 Gene

    Size:
    458 amino acids
    Molecular mass:
    50378 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for GALK2 Gene

    Alternative splice isoforms for GALK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALK2 Gene

Proteomics data for GALK2 Gene at MOPED

Post-translational modifications for GALK2 Gene

  • Ubiquitination at Lys 35 and Lys 327
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for GALK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q01415

UniProtKB/Swiss-Prot:

GALK2_HUMAN :
  • Belongs to the GHMP kinase family. GalK subfamily.
Family:
  • Belongs to the GHMP kinase family. GalK subfamily.
genes like me logo Genes that share domains with GALK2: view

No data available for Gene Families for GALK2 Gene

Function for GALK2 Gene

Molecular function for GALK2 Gene

GENATLAS Biochemistry:
galactokinase 2
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + N-acetyl-alpha-D-galactosamine = ADP + N-acetyl-alpha-D-galactosamine 1-phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for GALK2 Gene

Gene Ontology (GO) - Molecular Function for GALK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033858 N-acetylgalactosamine kinase activity IEA --
genes like me logo Genes that share ontologies with GALK2: view
genes like me logo Genes that share phenotypes with GALK2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GALK2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GALK2 Gene

Localization for GALK2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GALK2 Gene COMPARTMENTS Subcellular localization image for GALK2 gene
Compartment Confidence
cytosol 3
nucleus 2
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GALK2 Gene

Pathways & Interactions for GALK2 Gene

genes like me logo Genes that share pathways with GALK2: view

Gene Ontology (GO) - Biological Process for GALK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 8798585
genes like me logo Genes that share ontologies with GALK2: view

No data available for SIGNOR curated interactions for GALK2 Gene

Drugs & Compounds for GALK2 Gene

(2) Drugs for GALK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Galactose 1-phosphate Experimental Pharma 0

(7) Additional Compounds for GALK2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Beta-D-Galactose
  • b-D-Galactose
  • b-Galactose
  • beta D-Galactose
  • beta-D-Galactopyranose
  • beta-D-Galactose
7296-64-2
D-Galactose
  • (+)-Galactose
  • 5abp
  • 8abp
  • alpha D-Galactose
  • alpha-D-Galactopyranose
59-23-4
N-acetyl-alpha-D-galactosamine 1-phosphate
N-Acetyl-b-D-galactosamine
  • 2-Deoxy-2-acetamido-b-D-galactopyranose
  • 2-Deoxy-2-acetamido-beta-D-galactopyranose
  • 2-Deoxy-2-acetamido-beta-delta-galactopyranose
  • b-D-2-Acetamido-2-deoxy-Galactopyranose
  • b-N-Acetyl-D-galactosamine
14131-60-3
genes like me logo Genes that share compounds with GALK2: view

Transcripts for GALK2 Gene

Unigene Clusters for GALK2 Gene

Galactokinase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GALK2 Gene

No ASD Table

Relevant External Links for GALK2 Gene

GeneLoc Exon Structure for
GALK2
ECgene alternative splicing isoforms for
GALK2

Expression for GALK2 Gene

mRNA expression in normal human tissues for GALK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GALK2 Gene

This gene is overexpressed in Skin (7.5), Spleen (7.1), and Adrenal (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GALK2 Gene



SOURCE GeneReport for Unigene cluster for GALK2 Gene Hs.122006

genes like me logo Genes that share expression patterns with GALK2: view

Protein tissue co-expression partners for GALK2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GALK2 Gene

Orthologs for GALK2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GALK2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GALK2 35
  • 91.61 (n)
  • 93.65 (a)
GALK2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALK2 35
  • 90.39 (n)
  • 92.58 (a)
GALK2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galk2 35
  • 85.53 (n)
  • 89.09 (a)
Galk2 16
Galk2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GALK2 35
  • 99.64 (n)
  • 99.56 (a)
GALK2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galk2 35
  • 85.01 (n)
  • 89.08 (a)
oppossum
(Monodelphis domestica)
Mammalia GALK2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves GALK2 35
  • 77.44 (n)
  • 79.04 (a)
GALK2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALK2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galk2 35
  • 70.97 (n)
  • 73.09 (a)
Str.4096 35
African clawed frog
(Xenopus laevis)
Amphibia galk2-prov 35
zebrafish
(Danio rerio)
Actinopterygii galk2 35
  • 63.6 (n)
  • 65.35 (a)
galk2 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5288 37
  • 43 (a)
Galk 35
  • 51.17 (n)
  • 45.58 (a)
Galk 36
  • 41 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012568 35
  • 51.19 (n)
  • 46.15 (a)
worm
(Caenorhabditis elegans)
Secernentea M01D7.4 37
  • 39 (a)
tag-96 35
  • 48.48 (n)
  • 44.2 (a)
tag-96 36
  • 41 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08393g 35
  • 46.73 (n)
  • 40.64 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL3 35
  • 47.92 (n)
  • 42 (a)
GAL1 36
  • 32 (a)
ManyToMany
GAL3 36
  • 32 (a)
ManyToMany
GAL1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons GALK 35
  • 52.58 (n)
  • 46.65 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3036 35
rice
(Oryza sativa)
Liliopsida Os03g0832600 35
  • 52.34 (n)
  • 45.75 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08687 35
  • 46.25 (n)
  • 41.43 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gal1 35
  • 46.99 (n)
  • 39.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for GALK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALK2 Gene

ENSEMBL:
Gene Tree for GALK2 (if available)
TreeFam:
Gene Tree for GALK2 (if available)

Paralogs for GALK2 Gene

Paralogs for GALK2 Gene

genes like me logo Genes that share paralogs with GALK2: view

Variants for GALK2 Gene

Sequence variations from dbSNP and Humsavar for GALK2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs35507772 - 49,282,026(+) GTTAC(A/G)TTGGC intron-variant, nc-transcript-variant, reference, missense
rs563533 -- 49,173,384(-) ACTCA(A/G)GAATG intron-variant
rs671945 -- 49,167,650(+) CACTG(C/T)GCCCA intron-variant
rs672777 -- 49,193,708(+) TAGCA(C/T)TCTGT intron-variant, upstream-variant-2KB
rs568726 -- 49,163,411(-) ctcag(C/T)gccct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GALK2 Gene

Variant ID Type Subtype PubMed ID
nsv827332 CNV Loss 20364138
esv22168 CNV Loss 19812545
esv2749671 CNV Deletion 23290073
esv2672599 CNV Deletion 23128226
esv269481 CNV Insertion 20981092
esv272719 CNV Insertion 20981092
nsv833002 CNV Gain 17160897

Variation tolerance for GALK2 Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALK2 Gene

HapMap Linkage Disequilibrium report
GALK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALK2 Gene

Disorders for GALK2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GALK2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
galactokinase deficiency with cataracts
  • galactokinase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GALK2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GALK2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALK2
genes like me logo Genes that share disorders with GALK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GALK2 Gene

Publications for GALK2 Gene

  1. The molecular architecture of human N-acetylgalactosamine kinase. (PMID: 16006554) Thoden J.B. … Holden H.M. (J. Biol. Chem. 2005) 3 4 23 67
  2. Mechanistic studies on human N-acetylgalactosamine kinase. (PMID: 19874134) Agnew A. … Timson D. (J Enzyme Inhib Med Chem 2010) 3 23
  3. Kidney N-acetylgalactosamine (GalNAc)-1-phosphate kinase, a new pathway of GalNAc activation. (PMID: 8702831) Pastuszak I. … Elbein A.D. (J. Biol. Chem. 1996) 3 23
  4. Identification of the GalNAc kinase amino acid sequence. (PMID: 8798585) Pastuszak I. … Elbein A.D. (J. Biol. Chem. 1996) 3 23
  5. Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2. (PMID: 7542884) Ai Y. … Stambolian D. (Biochem. Biophys. Res. Commun. 1995) 3 23

Products for GALK2 Gene

Sources for GALK2 Gene

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