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GALK2 Gene

protein-coding   GIFtS: 64
GCID: GC15P049447

Galactokinase 2

  See GALK2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Galactokinase 21 2 3
GK22 3 5
GalNAc Kinase2 3
EC 2.7.1.1573 8
N-Acetylgalactosamine Kinase2
EC 2.7.18

External Ids:    HGNC: 41191   Entrez Gene: 25852   Ensembl: ENSG000001569587   OMIM: 1370285   UniProtKB: Q014153   

Export aliases for GALK2 gene to outside databases

Previous GC identifers: GC15P045019 GC15P042493 GC15P047027 GC15P047164 GC15P047235 GC15P026280


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include N-acetylgalactosamine kinase activity and galactokinase activity. An important paralog of this gene is GALK1.

UniProtKB/Swiss-Prot: GALK2_HUMAN, Q01415
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALK2 gene promoter:
         Nkx6-1   AML1a   FOXO4   FOXJ2 (long isoform)   FOXJ2   C/EBPalpha   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALK2 promoter sequence
   Search Chromatin IP Primers for GALK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALK2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21.1-q21.2   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q21.1-q21.2

GALK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALK2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P049447:  view genomic region     (about GC identifiers)

Start:
49,447,853 bp from pter      End:
49,660,066 bp from pter
Size:
212,214 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GALK2_HUMAN, Q01415 (See protein sequence)
Recommended Name: N-acetylgalactosamine kinase  
Size: 458 amino acids; 50378 Da
Subunit: Monomer
2 PDB 3D structures from and Proteopedia for GALK2:
2A2C (3D)        2A2D (3D)    
Secondary accessions: Q7Z4Q4
Alternative splicing: 2 isoforms:  Q01415-1   Q01415-2   

Explore the universe of human proteins at neXtProt for GALK2: NX_Q01415

Explore proteomics data for GALK2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys35, Lys327
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GALK2 (Q01415) (see all 9)
     YECSCPE  GYSVLPMA  SGLSSSSA  RATDVKLP 


    See GALK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001001556.1  NP_001275959.1  NP_001275960.1  NP_002035.1  

    ENSEMBL proteins: 
     ENSP00000453193   ENSP00000453457   ENSP00000316632   ENSP00000453961   ENSP00000453849  
     ENSP00000453241   ENSP00000453129   ENSP00000379766   ENSP00000452679   ENSP00000453844  
     ENSP00000454123   ENSP00000453909   ENSP00000440312   ENSP00000452614   ENSP00000453652  
     ENSP00000453133   ENSP00000453252   ENSP00000453257   ENSP00000452637   ENSP00000443220  

    GALK2 Human Recombinant Protein Products:

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    Novus Biologicals GALK2 Proteins
    Novus Biologicals GALK2 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for GALK2

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR000705 Galactokinase
     IPR006206 Mevalonate/galactokinase
     IPR019741 Galactokinase_CS
     IPR019539 GalKase_gal-bd
     IPR020568 Ribosomal_S5_D2-typ_fold

    Graphical View of Domain Structure for InterPro Entry Q01415

    ProtoNet protein and cluster: Q01415

    3 Blocks protein domains:
    IPB000705 Galactokinase
    IPB006203 GHMP kinase
    IPB013750 GHMP kinase


    UniProtKB/Swiss-Prot: GALK2_HUMAN, Q01415
    Similarity: Belongs to the GHMP kinase family. GalK subfamily


    Find genes that share domains with GALK2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GALK2_HUMAN, Q01415
    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
    Catalytic activity: ATP + N-acetyl-alpha-D-galactosamine = ADP + N-acetyl-alpha-D-galactosamine 1-phosphate

         Genatlas biochemistry entry for GALK2:
    galactokinase 2

         Enzyme Numbers (IUBMB): EC 2.7.1.1571 2 EC 2.7.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004335galactokinase activity IDA7542884
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
    GO:0016773phosphotransferase activity, alcohol group as acceptor ----
    GO:0033858N-acetylgalactosamine kinase activity IEA--
         
    Find genes that share ontologies with GALK2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for GALK2:
     Decreased mitotic index  Increased cell death in breast  Large nuclei 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GALK2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GALK2

    miRNA
    Products:
        
    miRTarBase miRNAs that target GALK2:
    hsa-mir-148a-5p (MIRT038704)

    Block miRNA regulation of human, mouse, rat GALK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GALK2 (see all 24):
    hsa-miR-181c hsa-miR-4318 hsa-miR-16-1* hsa-miR-374c hsa-miR-183* hsa-miR-3658 hsa-miR-186 hsa-miR-18b*
    SwitchGear 3'UTR luciferase reporter plasmidGALK2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GALK2
    Predesigned siRNA for gene silencing in human, mouse, rat GALK2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GALK2

    Clone
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    OriGene clones in human, mouse for GALK2 (see all 14)
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    GenScript: all cDNA clones in your preferred vector (see all 2): GALK2 (NM_002044)
    Sino Biological Human cDNA Clone for GALK2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALK2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALK2
    Addgene plasmids for GALK2 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GALK2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALK2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with GALK2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GALK2 About    
    See pathways by source

    SuperPathContained pathways About
    1Galactose metabolism
    Galactose metabolism0.44
    Galactose metabolism0.44
    2Metabolism
    Metabolic pathways0.38
    3Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism


    Find genes that share SuperPaths with GALK2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GALK2
        Galactose metabolism



    3 Kegg Pathways  (Kegg details for GALK2):
        Galactose metabolism
    Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GALK2
    Interactions:

        Search GeneGlobe Interaction Network for GALK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GALK2 (Q014153 ENSP000003797664) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLMHQ138673, ENSP000002617144I2D: score=1 STRING: ENSP00000261714
    CCNCP248633, ENSP000003582224I2D: score=1 STRING: ENSP00000358222
    ELP3Q9H9T33, ENSP000002563984I2D: score=1 STRING: ENSP00000256398
    H3F3AP842433I2D: score=1 
    H3F3BP842433I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS8798585
    GO:0006012galactose metabolic process IEA--
    GO:0046835carbohydrate phosphorylation ----

    Find genes that share ontologies with GALK2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GALK2

    1 HMDB Compound for GALK2    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-Acetylgalactosamine2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)1811-31-0--

    1 Novoseek inferred chemical compound relationship for GALK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    galactose 64.2 5 8798585 (2), 7542884 (1), 16006554 (1)



    Find genes that share compounds with GALK2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GALK2 gene (4 alternative transcripts): 
    NM_001001556.2  NM_001289030.1  NM_001289031.1  NM_002044.3  

    Unigene Cluster for GALK2:

    Galactokinase 2
    Hs.122006  [show with all ESTs]
    Unigene Representative Sequence: NM_001001556
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000559883 ENST00000559963 ENST00000327171(uc001zxi.1 uc001zxj.1 uc010ufb.1 uc001zxk.2 uc010ufc.1)
    ENST00000560654 ENST00000558775 ENST00000561074 ENST00000559040 ENST00000560031
    ENST00000396509 ENST00000558956 ENST00000559208 ENST00000559095 ENST00000558145
    ENST00000560119 ENST00000544523 ENST00000560138 ENST00000559423 ENST00000559454

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GALK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GALK2 (see all 24):
    hsa-miR-181c hsa-miR-4318 hsa-miR-16-1* hsa-miR-374c hsa-miR-183* hsa-miR-3658 hsa-miR-186 hsa-miR-18b*
    SwitchGear 3'UTR luciferase reporter plasmidGALK2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GALK2
    Predesigned siRNA for gene silencing in human, mouse, rat GALK2
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): GALK2 (NM_002044)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALK2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALK2
    Addgene plasmids for GALK2 
    Primer
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    OriGene qPCR primer pairs and template standards for GALK2
    OriGene qSTAR qPCR primer pairs in human, mouse for GALK2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALK2
      QuantiTect SYBR Green Assays in human, mouse, rat GALK2
      QuantiFast Probe-based Assays in human, mouse, rat GALK2

    Additional mRNA sequence: 

    AF461816.1 AK098049.1 AK301361.1 AK316440.1 AL832745.1 BC005141.2 BT006901.1 M84443.1 

    21 DOTS entries:

    DT.92429030  DT.100799639  DT.97819487  DT.309627  DT.121049838  DT.309626  DT.91708976  DT.121049747 
    DT.100818971  DT.95143967  DT.121049753  DT.100818969  DT.100818974  DT.100818975  DT.99980651  DT.100028538 
    DT.121049779  DT.97826656  DT.100028539  DT.100823423  DT.121049827 

    Selected AceView cDNA sequences (see all 75):

    BF172544 AL601229 BP375931 BM148141 BI916238 AL709949 BI766538 BX393766 
    BX344863 AL601274 BP373724 AU118231 BX506742 BI768827 BI760818 CD700990 
    CA777641 BI548614 BQ674663 BG427583 BI464839 BU186028 BG401819 BM804902 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GALK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTGGACTT
    GALK2 Expression
    About this image


    GALK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    GALK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.122006
        Custom PCR Arrays for GALK2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALK2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GALK2 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galk21 , 5 galactokinase 21, 5 85.53(n)1
    89.09(a)1
      2 (61.76 cM)5
    699761  NM_175154.21  NP_780363.11 
     1258591095 
    chicken
    (Gallus gallus)
    Aves GALK21 galactokinase 2 77.44(n)
    79.04(a)
      415596  NM_001030557.1  NP_001025728.1 
    lizard
    (Anolis carolinensis)
    Reptilia GALK26
    galactokinase 2
    71(a)
    1 ↔ 1
    GL343506.1(235905-253476)
    African clawed frog
    (Xenopus laevis)
    Amphibia galk2-prov2 galactokinase 2 75.39(n)    BC044977.1 
    zebrafish
    (Danio rerio)
    Actinopterygii galk21 galactokinase 2 63.6(n)
    65.35(a)
      792268  NM_001007432.2  NP_001007433.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52883
    Galk1
    galactokinase3
    Galactokinase1
    43(a)3
    51.17(n)1
    45.58(a)1
      66E63
    390311  NM_001202145.11  NP_001189074.11 
    worm
    (Caenorhabditis elegans)
    Secernentea M01D7.43
    tag-961
    galactokinase3
    tag-961
    39(a)3
    48.48(n)1
    44.2(a)1
      I(1845222-1850403)3
    1717551  NM_058508.31  NP_490909.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GAL1(YBR020W)4
    GAL31
    Galactokinase, phosphorylates alpha-D-galactose to alpha-D-galactose-1-phosphate in the first step of galactose catabolism; expression regulated by Gal4p less4
    GAL31
    47.92(n)1
    42(a)1
      2(279021-280607)4
    8515721  NP_010292.11  8523084 
     NP_009576.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GALK1 GALK 52.58(n)
    46.65(a)
      819837  NM_111534.3  NP_187310.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g08326001 Os03g0832600 52.34(n)
    45.75(a)
      4334679  NM_001058338.1  NP_001051803.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GALK2 gene
    GALK12  
    Selected SIMAP similar genes for GALK2 using alignment to 15 protein entries:     GALK2_HUMAN (see all proteins) (see all similar genes):
    BUB1B    C12orf23    TAF2    TGFBR3    ARL6IP5    NLE1
    BIRC3    EIF3K    LRTOMT    NDUFS3    TCTEX1D2    ZNF554
    SLC24A1    BEAN1    PPIL6    SIPA1L3    ARIH1    MUC20

    Find genes that share paralogs with GALK2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GALK2 (see all 2855)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1438416111,2
    C--49451347(+) TGGCT-/GGG   
       
    /GGGG
    GTGTA
    2 -- int1 cds10--------
    rs116322111,2
    C,F,H--49451375(+) GTACCA/C/TGTGCA 1 -- int114NA EA WA CSA 856
    rs1431649651,2
    --49451458(+) TGAATA/GTCTTT 1 -- int10--------
    rs1509176341,2
    --49451647(+) GTGGCA/GGGTGC 1 -- int10--------
    rs1394059801,2
    C--49451765(+) AAGACC/TCTGTC 1 -- int10--------
    rs31058601,2
    C,A--49451785(+) AAAAAA/TAAAAT 1 -- int1 trp31Minor allele frequency- T:0.00NA 2
    rs1139461011,2
    C,F--49451925(+) TACATG/ACAAAT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs745236671,2
    C--49452116(+) CAGCTG/ATGTCT 1 -- int14Minor allele frequency- A:0.08CSA WA NA EA 360
    rs1442453161,2
    C--49452198(+) AGGCAC/TGGTGG 1 -- int10--------
    rs1149126451,2
    F--49452210(+) TCGTGC/TTTGTA 1 -- int11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for GALK2 (49447853 - 49660066 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GALK2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672599CNV Deletion23128226
    esv2749671CNV Deletion23290073
    esv269481CNV Insertion20981092
    esv272719CNV Insertion20981092
    nsv827332CNV Loss20364138
    esv22168CNV Loss19812545
    nsv833002CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GALK2
    DNA2.0 Custom Variant and Variant Library Synthesis for GALK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137028    OMIM disorders: --

    1 disease for GALK2:    
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    galactokinase deficiency

    1 disease from the University of Copenhagen DISEASES database for GALK2:
    Galactokinase deficiency

    Find genes that share disorders with GALK2           About GenesLikeMe


    Export disorders for GALK2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GALK2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with GALK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The molecular architecture of human N-acetylgalactosamine kinase. (PubMed id 16006554)1, 2, 9 Thoden J.B. and Holden H.M. (J. Biol. Chem. 2005)
    2. Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2. (PubMed id 7542884)1, 2, 9 Ai Y.... Stambolian D. (Biochem. Biophys. Res. Commun. 1995)
    3. Identification of the GalNAc kinase amino acid sequence. (PubMed id 8798585)1, 2, 9 Pastuszak I.... Elbein A.D. (J. Biol. Chem. 1996)
    4. Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast. (PubMed id 1438294)1, 2, 9 Lee R.T.... O'Donnell J.J. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Mechanistic studies on human N-acetylgalactosamine kinase. (PubMed id 19874134)1, 9 Agnew A. and Timson D. (J Enzyme Inhib Med Chem 2010)
    7. Kidney N-acetylgalactosamine (GalNAc)-1-phosphate kinase, a new pathway of GalNAc activation. (PubMed id 8702831)1, 9 Pastuszak I....Elbein A.D. (J. Biol. Chem. 1996)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2585 HGNC: 4119 AceView: GALK2 Ensembl:ENSG00000156958 euGenes: HUgn2585
    ECgene: GALK2 Kegg: 2585 H-InvDB: GALK2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GALK2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GALK2 gene:
    Search GeneIP for patents involving GALK2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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