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GALNT6 Gene

protein-coding   GIFtS: 64
GCID: GC12M051769

Polypeptide N-Acetylgalactosaminyltransferase 6

(Previous name: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase...)
  See related diseases
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
Polypeptide N-Acetylgalactosaminyltransferase 61 2     EC 2.4.1.413 8
Polypeptide GalNAc Transferase 61 2 3     GalNAcT62 5
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 6 (GalNAc-T6)1 2
     GALNAC-T62
Protein-UDP Acetylgalactosaminyltransferase 62 3     GalNAc Transferase 62
Pp-GaNTase 62 3     UDP-N-Acetyl-Alpha-D-Galactosamine: Polypeptide
N-Acetylgalactosaminyltransferase 62
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 62 3     GalNAc-T63

External Ids:    HGNC: 41281   Entrez Gene: 112262   Ensembl: ENSG000001396297   OMIM: 6051485   UniProtKB: Q8NCL43   

Export aliases for GALNT6 gene to outside databases

Previous GC identifers: GC12M051903 GC12M051463 GC12M050033 GC12M048778


(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 GALNT6 Gene:
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase
(GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by
catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by
an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and
Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but
overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating
fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in
the synthesis of oncofetal fibronectin. (provided by RefSeq, Jul 2008)

GeneCards Summary for GALNT6 Gene:
GALNT6 (polypeptide N-acetylgalactosaminyltransferase 6) is a protein-coding gene. Diseases associated with GALNT6 include cicatricial pemphigoid, and thyroiditis. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT12.

UniProtKB/Swiss-Prot: GALT6_HUMAN, Q8NCL4
Function: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an
N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. May participate in
synthesis of oncofetal fibronectin. Has activity toward Muc1a, Muc2, EA2 and fibronectin peptides

Gene Wiki entry for GALNT6 Gene


(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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALNT6 gene promoter:
         C/EBPbeta   p53   AML1a   MZF-1   POU2F1   POU2F1a   ATF6   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALNT6 promoter sequence
   Search Chromatin IP Primers for GALNT6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALNT6


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13

GALNT6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT6 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M051769:  view genomic region     (about GC identifiers)

Start:
51,745,031 bp from pter      End:
51,786,651 bp from pter
Size:
41,621 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: GALT6_HUMAN, Q8NCL4 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 6  
Size: 622 amino acids; 71159 Da
Cofactor: Manganese (By similarity)
Sequence caution: Sequence=BAB15297.1; Type=Erroneous initiation;
Secondary accessions: Q8IYH4 Q9H6G2 Q9UIV5

Explore the universe of human proteins at neXtProt for GALNT6: NX_Q8NCL4

Explore proteomics data for GALNT6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr38, Asn86, Asn476
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GALNT6 (Q8NCL4) (see all 14)
     LEIIPCS  FHNEAWS  GWLEPLL  AGGLFSI 


    See GALNT6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009141.2  
    ENSEMBL proteins: 
     ENSP00000444171   ENSP00000348668   ENSP00000474670   ENSP00000474101   ENSP00000474515  
     ENSP00000473918   ENSP00000473836   ENSP00000474052   ENSP00000473948   ENSP00000473981  
     ENSP00000474163   ENSP00000474483  
    Reactome Protein details: Q8NCL4

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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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    HGNC Gene Families:
    GLT2: Glycosyltransferase family 2 domain containing

    2 InterPro protein domains:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2

    Graphical View of Domain Structure for InterPro Entry Q8NCL4

    ProtoNet protein and cluster: Q8NCL4

    2 Blocks protein domains:
    IPB000772 Ricin B lectin domain
    IPB001173 Glycosyl transferase


    UniProtKB/Swiss-Prot: GALT6_HUMAN, Q8NCL4
    Domain: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also
    called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal
    domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal
    binding (By similarity)
    Domain: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By
    similarity)
    Similarity: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily
    Similarity: Contains 1 ricin B-type lectin domain


    GALNT6 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GALT6_HUMAN, Q8NCL4
    Function: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an
    N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. May participate in
    synthesis of oncofetal fibronectin. Has activity toward Muc1a, Muc2, EA2 and fibronectin peptides
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

         Genatlas biochemistry entry for GALNT6:
    galactosamine

         Enzyme Number (IUBMB): EC 2.4.1.411 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    GALNT6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GALNT6:
     Decreased cilium length after  

         1 MGI phenotypic allele for Galnt6 (no phenotypes)

    GALNT6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GALNT6
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    miRNA
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    hsa-miR-3607-3p hsa-miR-1321 hsa-miR-185* hsa-miR-513a-5p hsa-miR-4312 hsa-miR-218 hsa-miR-3684 hsa-miR-3159
    SwitchGear 3'UTR luciferase reporter plasmidGALNT6 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: GALNT6 (NM_007210)
    Sino Biological Human cDNA Clone for GALNT6
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT6


    (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 UniProtKB/Swiss-Prot
    GALT6_HUMAN, Q8NCL4: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol2
    nucleus2
    endoplasmic reticulum1
    extracellular1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus IDA12506059
    GO:0016021integral component of membrane IEA--
    GO:0048471perinuclear region of cytoplasm IDA12506059

    GALNT6 for ontologies           About GeneDecksing


    (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 GALNT6 About    
    See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47
    Mucin type O-Glycan biosynthesis0.47
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GALNT6
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for GALNT6):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALT6_HUMAN, Q8NCL4
    Pathway: Protein modification; protein glycosylation


    GALNT6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GALNT6: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GALNT6

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

    Selected Interacting proteins for GALNT6 (Q8NCL43 ENSP000003486684) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FN1P027513, ENSP000003468394I2D: score=1 STRING: ENSP00000346839
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT10ENSP000002971074STRING: ENSP00000297107
    GALNT11ENSP000003158354STRING: ENSP00000315835
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006493protein O-linked glycosylation TAS10464263
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    GALNT6 for ontologies           About GeneDecksing



    (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 GALNT6 (GALT6)

    5 HMDB Compounds for GALNT6    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Lactosaminebeta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose (see all 8)13000-25-4--
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GALNT6 gene: 
    NM_007210.3  

    Unigene Cluster for GALNT6:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)
    Hs.505575  [show with all ESTs]
    Unigene Representative Sequence: AB265820
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000543196(uc001ryk.2 uc010snh.1) ENST00000356317(uc001ryj.1 uc009zma.1 uc001ryl.1)
    ENST00000603680 ENST00000603641 ENST00000604381 ENST00000604847 ENST00000604426
    ENST00000605617 ENST00000603188 ENST00000603563 ENST00000605138 ENST00000604506
    ENST00000605055 ENST00000603203 ENST00000605822 ENST00000605089 ENST00000603482
    ENST00000605367
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    hsa-miR-3607-3p hsa-miR-1321 hsa-miR-185* hsa-miR-513a-5p hsa-miR-4312 hsa-miR-218 hsa-miR-3684 hsa-miR-3159
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    Additional mRNA sequence: 

    AB265820.1 AK025961.1 AK074658.1 AK296852.1 BC035822.1 BC114505.1 BC114949.1 Y08565.1 

    8 DOTS entries:

    DT.100752395  DT.121176470  DT.210421  DT.101966657  DT.121176489  DT.101967657  DT.100020935  DT.100748901 

    Selected AceView cDNA sequences (see all 100):

    BM807129 BC035822 BQ012333 CA437877 AA515416 BQ012677 BQ012827 BF914323 
    AA641456 CB141827 AA373086 AL118633 BU678306 AK092496 BU678329 BU856975 
    AA608594 BQ018534 CA308294 BM931130 AA033651 AA984631 BM773226 BM825102 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GALNT6 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g · 7h ^ 8 ^ 9 ^ 10 ^
    SP1:                                                  -           -     -     -     -     -                                                                     
    SP2:                                                                          -     -     -                                                                     
    SP3:                    -     -     -     -     -     -                                                                                                         
    SP4:                                                  -                                                                                                         
    SP5:                                                                                                                                                            

    ExUns: 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b
    SP1:        -                                       
    SP2:        -                                       
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for GALNT6

    (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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    GALNT6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCGCAGA
    GALNT6 Expression
    About this image


    GALNT6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Stomach (Gastrointestinal Tract)
    GALNT6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALNT6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505575

    UniProtKB/Swiss-Prot: GALT6_HUMAN, Q8NCL4
    Tissue specificity: Expressed in placenta and trachea. Weakly expressed in brain and pancreas. Expressed in
    fibroblast. Weakly or not expressed in lung, liver, muscle, kidney, spleen, thymus, prostate, testis, ovary,
    intestine, colon, leukocyte, stomach, thyroid, spinal cord, lymph node, trachea, adrenal gland and bone marrow

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    (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 chordates.

    Orthologs for GALNT6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt61 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 86.87(n)1
    88.59(a)1
      15 (56.39 cM)5
    2078391  NM_001161767.11  NP_001155239.11 
     1006918135 
    chicken
    (Gallus gallus)
    Aves GALNT61 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 74.83(n)
    76.33(a)
      429501  NM_001031578.1  NP_001026749.1 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT66
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-a...
    74(a)
    1 ↔ 1
    2(67732110-67765547)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF289904.12   -- 73.88(n)    CF289904.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CK235970.12   -- 81.16(n)   324272  CK235970.1 


    ENSEMBL Gene Tree for GALNT6 (if available)
    TreeFam Gene Tree for GALNT6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GALNT6 gene
    GALNT122  GALNT12  GALNTL62  GALNT32  GALNT22  GALNT102  GALNT132  POC1B-GALNT42  
    GALNT152  GALNT72  GALNT52  GALNT142  GALNTL52  GALNT42  GALNT162  GALNT112  
    Selected SIMAP similar genes for GALNT6 using alignment to 12 protein entries:     GALT6_HUMAN (see all proteins) (see all similar genes):
    GALNT3    GALNTL6    GALNTL5    GALNT1    POC1B-GALNT4    GALNT4
    GALNT13    GalNAc-T10    GALNT2    GalNAc-T16    GALNT12    GALNT10
    GALNT5    GALNT11    GALNT14    GALNT16    GALNT9    GALNT7

    GALNT6 for paralogs           About GeneDecksing



    (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 GALNT6 (see all 826)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs346618311,2
    C--51595907(+) CCATG-/T/TT  
            
    TTTTT
    1 -- int11NA 2
    rs1487036341,2
    --51745374(+) GGAAGC/GAATTG 1 -- ds50010--------
    rs1149117251,2
    F--51745447(+) TTAGCG/TTGTGA 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs38586271,2
    C,F,A,H--51745478(-) GACGTC/GAAACG 1 -- ds500129Minor allele frequency- G:0.19EA NA NS CSA WA 2626
    rs1161652751,2
    F--51745598(+) TCATAG/TCCCAA 1 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1426736691,2
    C--51745606(+) CAAATC/TAACTG 1 -- ds50010--------
    rs25191,2
    C,F,A,H--51745690(-) GTCTCG/AGTGGA 1 -- ds500133Minor allele frequency- A:0.16NS EA NA WA CSA 2715
    rs1473555121,2
    --51745724(+) CGGGAA/GCTTTT 1 -- ds50010--------
    rs38899741,2
    C,F,H--51745795(-) GCCTAC/AAGAGG 1 -- ds500110Minor allele frequency- A:0.07MN NS EA NA 1058
    rs113411,2
    C,F,A,H--51745822(-) CGCCTG/ACATCC 1 -- ds500123Minor allele frequency- A:0.31MN NS EA NA WA CSA 1386

    HapMap Linkage Disequilibrium report for GALNT6 (51745031 - 51786651 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GALNT6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745883CNV Deletion23290073
    nsv832408CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605148    OMIM disorders: --

    4 diseases for GALNT6:    
    About MalaCards
    cicatricial pemphigoid    thyroiditis    breast cancer    prostatitis


    GALNT6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GALNT6
    Human Genome Epidemiology (HuGE) Navigator: GALNT6 (1 document)

    Export disorders for GALNT6 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 GALNT6 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with GALNT6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a close homologue of human UDP-N- acetyl--D-galactosamine:polypeptide N-acetylgalactosaminyltransferase- T3, designated GalNAc-T6. Evidence for genetic but not functional redundancy. (PubMed id 10464263)1, 2, 3 Bennett E.P.... Clausen H. (J. Biol. Chem. 1999)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Expression of UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase-6 in gastric mucosa, intestinal metaplasia, and gastric carcinoma. (PubMed id 18854599)1, 9 Gomes J....Reis C.A. (J. Histochem. Cytochem. 2009)
    6. Prognostic utility of glycosyltransferase expression in breast cancer. (PubMed id 19287074)1, 9 Patani N....Mokbel K. (amp 2008)
    7. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    8. Polypeptide N-acetylgalactosaminyltransferase 6 disrupts mammary acinar morphogenesis through O-glycosylation of fibronectin. (PubMed id 21472136)1 Park J.H....Nakamura Y. (Neoplasia 2011)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    10. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1 Otsuki T....Isogai T. (DNA Res. 2005)

    (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: 11226 HGNC: 4128 AceView: GALNT6 Ensembl:ENSG00000139629 euGenes: HUgn11226
    ECgene: GALNT6 Kegg: 11226 H-InvDB: GALNT6

    (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 GALNT6 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GALNT6
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_488

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GALNT6 gene:
    Search GeneIP for patents involving GALNT6

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



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