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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GALNT6 Gene

protein-coding   GIFtS: 63
GCID: GC12M051769

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)
About This Section

Aliases
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 6 (GalNAc-T6)1 2
     GalNAcT62 5
Polypeptide GalNAc Transferase 62 3     GALNAC-T62
Protein-UDP Acetylgalactosaminyltransferase 62 3     GalNAc Transferase 62
Pp-GaNTase 62 3     Polypeptide N-Acetylgalactosaminyltransferase 62
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 62 3     UDP-N-Acetyl-Alpha-D-Galactosamine: Polypeptide
N-Acetylgalactosaminyltransferase 62
EC 2.4.1.413 8     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)) is a protein-coding gene. Diseases associated with GALNT6 include cicatricial pemphigoid, and thyroiditis, and among its related super-pathways are Mucin type O-Glycan biosynthesis and Post-translational protein modification. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is POC1B-GALNT4.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GALNT6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Cofactor: Calcium (By similarity)
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NCL4

  • 4/14 DME Specific Peptides for GALNT6 (Q8NCL4) (see all 14)
     LEIIPCS  FHNEAWS  GWLEPLL  AGGLFSI 

    GALNT6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GALNT6 Protein Expression
    REFSEQ proteins: NP_009141.2  
    ENSEMBL proteins: 
     ENSP00000444171   ENSP00000348668   ENSP00000474670   ENSP00000474101   ENSP00000474515  
     ENSP00000473918   ENSP00000473836   ENSP00000474052   ENSP00000473948   ENSP00000473981  
     ENSP00000474163   ENSP00000474483  
    Reactome Protein details: Q8NCL4
    Human Recombinant Protein Products for GALNT6: 
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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    GALNT6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity 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 - Custom generated mouse model solutions for GALNT6 
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    SwitchGear 3'UTR luciferase reporter plasmidGALNT6 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GALNT6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.44
    Mucin type O-Glycan biosynthesis0.44
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for GALNT6
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GALNT6

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

    5/41 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
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT10ENSP000002971074STRING: ENSP00000297107
    GALNT11ENSP000003158354STRING: ENSP00000315835
    GALNT12ENSP000003641504STRING: ENSP00000364150
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about GALNT6 / GALT6

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/19 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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    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 

    24/100 AceView cDNA sequences (see all 100):

    BQ012827 BF914323 BU678306 BQ012333 CB141827 AA515416 BU678329 BQ012677 
    AA641456 AA373086 BM807129 AK092496 AL118633 CA437877 BC035822 BX490240 
    AK074658 AW749801 AA984631 AK025961 BE263130 CA443339 AI623204 BQ278673 

    GeneLoc Exon Structure

    5/13 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GALNT6 expression in normal human tissues (normalized intensities)      GALNT6 embryonic expression: see
    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 
     5/21 selected tissues (see all 21) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             small intestine   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 3 entries
             autonomic/sympathetic/ganglion   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             placenta ; decidual cells   

    See GALNT6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GALNT6

    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

        SABiosciences Expression via Pathway-Focused PCR Array including GALNT6: 
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GALNT6 gene from 5/13 species (see all 13)    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 74.95(n)
    76.45(a)
      429501  NM_001031578.1  NP_001026749.1 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT66
    Uncharacterized protein
    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)
    About This Section
    Paralogs for GALNT6 gene
    POC1B-GALNT42  GALNT122  GALNT52  GALNT72  GALNT12  GALNTL62  GALNT142  GALNTL52  
    GALNT32  GALNT22  GALNT102  GALNT42  GALNT132  GALNT162  GALNT112  
    18/25 SIMAP similar genes for GALNT6 using alignment to 3 protein entries:     GALT6_HUMAN (see all proteins) (see all similar genes):
    GALNT3    GALNTL5    GALNT1    GALNT4    POC1B-GALNT4    GALNTL6
    GALNT13    GalNAc-T10    GALNT2    GalNAc-T16    GALNT12    GALNT10
    GALNT5    GALNT11    GALNT14    GALNT16    GALNT9    GALNT18

    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/826 SNPs in GALNT6 are shown (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.)
    About This Section
    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)
    About This Section

    PubMed articles for GALNT6 gene, integrated from 9 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. (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. (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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2009)
    6. Prognostic utility of glycosyltransferase expression in breast cancer. (PubMed id 19287074)1, 9 Patani N....Mokbel K. (2008)
    7. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    8. Polypeptide N-acetylgalactosaminyltransferase 6 disru pts mammary acinar morphogenesis through O-glycosylation of fibronectin. (PubMed id 21472136)1 Park J.H....Nakamura Y. (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. (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. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 11226 HGNC: 4128 AceView: GALNT6 Ensembl:ENSG00000139629 euGenes: HUgn11226
    ECgene: GALNT6 Kegg: 11226 H-InvDB: GALNT6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GALNT6 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    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.)
    About This Section
    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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