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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 61
  • GK2 3 4
  • N-Acetylgalactosamine Kinase 3
  • EC 2.7.1 61

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. Among its related pathways are Galactose metabolism. 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 CIViC summary , 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

Enhancers for GALK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G049169 1.1 ENCODE 7 +15.3 15281 3.4 HDGF PKNOX1 CREB3L1 ARNT SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 SECISBP2L GALK2 FGF7 FAM227B MIR4716 RPL15P19
GH15G049328 1.2 ENCODE 5.1 +173.5 173457 0.9 CREB3L1 MLX ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZNF610 LOC100420615 GALK2 ENSG00000275580 PIR52968
GH15G049195 0.5 FANTOM5 12 +40.3 40271 0.2 PRDM6 FEZF1 COPS2 GALK2 RN7SL307P GC15P049181
GH15G049421 1.3 Ensembl ENCODE dbSUPER 4.2 +268.2 268207 3.8 TBP ARNT ZSCAN4 DNMT3B ZNF2 RAD21 CHAMP1 ZNF366 ZNF654 ELF1 FGF7 SECISBP2L GALK2 ENSG00000259715 LOC105370811
GH15G049133 1 Ensembl ENCODE 5.3 -19.1 -19082 5.2 MXI1 JUN BRCA1 RAD21 ZBTB40 YY1 RFX5 ZNF316 GATA2 SCRT2 SECISBP2L SHC4 FGF7 GALK2 FAM227B ENSG00000200120 GC15M049139 GC15M049107
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GALK2 on UCSC Golden Path with GeneCards custom track

Promoters for GALK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076316 44 3001 HDGF PKNOX1 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1

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

Selected DME Specific Peptides for GALK2 Gene

Q01415:
  • YECSCPE
  • LTGAGWGGC
  • VKLPSGAVFVIANSC
  • SGLSSSSA
  • RATDVKLP
  • GGMDQSISFLAE
  • LGISLEEMLLVTEDALH
  • PGRVNIIGEH
  • GYSVLPMA

Post-translational modifications for GALK2 Gene

  • Ubiquitination at isoforms=235 and Lys327
  • Modification sites at PhosphoSitePlus

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:0004335 galactokinase activity IEA,IDA 7542884
GO:0005524 ATP binding IEA --
GO:0005534 galactose binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase 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 Models for GALK2 Gene

MGI Knock Outs for GALK2:

Animal Model Products

  • Taconic Biosciences Mouse Models for GALK2

CRISPR Products

Inhibitory RNA Products

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

Localization for GALK2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALK2 gene
Compartment Confidence
cytosol 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GALK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with GALK2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GALK2 Gene

Pathways & Interactions for GALK2 Gene

SuperPathways for GALK2 Gene

SuperPathway Contained pathways
1 Galactose metabolism
genes like me logo Genes that share pathways with GALK2: view

Pathways by source for GALK2 Gene

1 GeneGo (Thomson Reuters) pathway for GALK2 Gene

Gene Ontology (GO) - Biological Process for GALK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 8798585
GO:0006012 galactose metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0046835 carbohydrate phosphorylation IEA --
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

(1) Drugs for GALK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(8) 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
Galactose 1-phosphate
  • 1-(Dihydrogen phosphate) Galactitol
  • 1-Phosphate a-D-Galactopyranose
  • a-D-1-(Dihydrogen phosphate) Galactopyranose
  • a-D-Galactopyranosyl phosphate
  • a-D-Galactose 1-phosphate
2255-14-3
N-acetyl-alpha-D-galactosamine 1-phosphate
genes like me logo Genes that share compounds with GALK2: view

Transcripts for GALK2 Gene

Unigene Clusters for GALK2 Gene

Galactokinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GALK2 Gene



Protein tissue co-expression partners for GALK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GALK2 Gene:

GALK2

SOURCE GeneReport for Unigene cluster for GALK2 Gene:

Hs.122006

Evidence on tissue expression from TISSUES for GALK2 Gene

  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with GALK2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GALK2 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia GALK2 34 35
  • 91.61 (n)
dog
(Canis familiaris)
Mammalia GALK2 34 35
  • 90.39 (n)
mouse
(Mus musculus)
Mammalia Galk2 34 16 35
  • 85.53 (n)
rat
(Rattus norvegicus)
Mammalia Galk2 34
  • 85.01 (n)
oppossum
(Monodelphis domestica)
Mammalia GALK2 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 77 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves GALK2 34 35
  • 77.44 (n)
lizard
(Anolis carolinensis)
Reptilia GALK2 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galk2 34
  • 70.97 (n)
Str.4096 34
African clawed frog
(Xenopus laevis)
Amphibia galk2-prov 34
zebrafish
(Danio rerio)
Actinopterygii galk2 34 35
  • 63.6 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012568 34
  • 51.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta Galk 34 35
  • 51.17 (n)
CG5288 36
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea tag-96 34 35
  • 48.48 (n)
M01D7.4 36
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL3 34 35
  • 47.92 (n)
GAL1 35 37
  • 32 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08393g 34
  • 46.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GALK 34
  • 52.58 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3036 34
rice
(Oryza sativa)
Liliopsida Os03g0832600 34
  • 52.34 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gal1 34
  • 46.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08687 34
  • 46.25 (n)
Species where no ortholog for GALK2 was found in the sources mined by GeneCards:
  • 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
rs1000003640 -- 49,235,809(+) CTCAA(A/G)GCCTA intron-variant
rs1000008209 -- 49,358,636(+) AGAAT(C/G)AATAT intron-variant
rs1000017721 -- 49,306,012(+) GAAAG(A/G)TTTTT intron-variant
rs1000032296 -- 49,217,620(+) AGCAA(A/T)GTCAG intron-variant
rs1000036230 -- 49,328,215(+) AGGAC(A/T)TTCTG intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv1210n106 CNV deletion 24896259
dgv4515n54 CNV loss 21841781
dgv4516n54 CNV loss 21841781
dgv4517n54 CNV loss 21841781
dgv4518n54 CNV loss 21841781
dgv4519n54 CNV loss 21841781
dgv4520n54 CNV loss 21841781
dgv4521n54 CNV loss 21841781
dgv4522n54 CNV loss 21841781
dgv4523n54 CNV loss 21841781
dgv4524n54 CNV loss 21841781
esv22168 CNV loss 19812545
esv2672599 CNV deletion 23128226
esv2749671 CNV deletion 23290073
esv3552423 CNV deletion 23714750
esv3581695 CNV loss 25503493
esv3636423 CNV loss 21293372
esv3636424 CNV loss 21293372
nsv1113710 CNV deletion 24896259
nsv478867 CNV novel sequence insertion 20440878
nsv569342 CNV gain 21841781
nsv569353 CNV gain+loss 21841781
nsv569354 CNV loss 21841781
nsv569358 CNV gain+loss 21841781
nsv569363 CNV gain+loss 21841781
nsv569364 CNV gain+loss 21841781
nsv569389 CNV gain+loss 21841781
nsv827332 CNV loss 20364138
nsv833002 CNV gain 17160897
nsv974572 CNV duplication 23825009
nsv974573 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
GALK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALK2

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

Disorders for GALK2 Gene

Relevant External Links for GALK2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALK2

No disorders were found for GALK2 Gene.

No data available for MalaCards , 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 22 64
  2. Identification of the GalNAc kinase amino acid sequence. (PMID: 8798585) Pastuszak I. … Elbein A.D. (J. Biol. Chem. 1996) 3 4 22 64
  3. 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 4 22 64
  4. Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast. (PMID: 1438294) Lee R.T. … O'Donnell J.J. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 22 64
  5. Mechanistic studies on human N-acetylgalactosamine kinase. (PMID: 19874134) Agnew A. … Timson D. (J Enzyme Inhib Med Chem 2010) 3 22 64

Products for GALK2 Gene

  • Addgene plasmids for GALK2

Sources for GALK2 Gene

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