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GALNT9 Gene

protein-coding   GIFtS: 57
GCID: GC12M132680

Polypeptide N-Acetylgalactosaminyltransferase 9

(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 91 2     EC 2.4.1.413 8
Polypeptide GalNAc Transferase 91 2 3     GALNACT92 5
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 9 (GalNAc-T9)1 2
     GALNAC-T92
Protein-UDP Acetylgalactosaminyltransferase 92 3     GalNAc Transferase 92
Pp-GaNTase 92 3     UDP-GalNAc: Polypeptide N-Acetylgalactosaminyltransferase 92
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 92 3     GalNAc-T93

External Ids:    HGNC: 41311   Entrez Gene: 506142   Ensembl: ENSG000001828707   OMIM: 6062515   UniProtKB: Q9HCQ53   

Export aliases for GALNT9 gene to outside databases

Previous GC identifers: GC00U990692 GC12U900004 GC12M132561 GC12M131176 GC12M131177 GC12M131347 GC12M129565


(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 GALNT9 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. This gene is expressed specifically in the
brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GALNT9 Gene:
GALNT9 (polypeptide N-acetylgalactosaminyltransferase 9) is a protein-coding gene. Diseases associated with GALNT9 include sideroblastic anemia, and williams-beuren syndrome. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT18.

UniProtKB/Swiss-Prot: GALT9_HUMAN, Q9HCQ5
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. Does not glycosylate
apomucin or SDC3




(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  NC_018923.2  NT_024477.15  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALNT9 gene promoter:
         Nkx3-1   AREB6   p53   Pbx1a   Nkx3-1 v1   Cdc5   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALNT9 promoter sequence
   Search Chromatin IP Primers for GALNT9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALNT9


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

Entrez Gene cytogenetic band: 12q24.33   Ensembl cytogenetic band:  12q24.33   HGNC cytogenetic band: 12q24.33

GALNT9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT9 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M132680:  view genomic region     (about GC identifiers)

Start:
132,680,917 bp from pter      End:
132,905,935 bp from pter
Size:
225,019 bases      Orientation:
minus strand

1 alternative location:
Chr12-,NW_003315937 12,716-103,358     

(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: GALT9_HUMAN, Q9HCQ5 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 9  
Size: 603 amino acids; 68359 Da
Cofactor: Manganese (By similarity)
Secondary accessions: Q52LR8 Q6NT54 Q8NFR1
Alternative splicing: 2 isoforms:  Q9HCQ5-1   Q9HCQ5-2   

Explore the universe of human proteins at neXtProt for GALNT9: NX_Q9HCQ5

Explore proteomics data for GALNT9 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn460
  • 3 DME Specific Peptides for GALNT9 (Q9HCQ5)
     GLIRARL  IFVNEALS  RAAEVWMD 


    See GALNT9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001116108.1  NP_068580.2  

    ENSEMBL proteins: 
     ENSP00000380488   ENSP00000394446   ENSP00000329846   ENSP00000440544   ENSP00000444709  
     ENSP00000438221   ENSP00000439745  
    Reactome Protein details: Q9HCQ5

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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

    3 InterPro protein domains:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2
     IPR001202 WW_dom

    Graphical View of Domain Structure for InterPro Entry Q9HCQ5

    ProtoNet protein and cluster: Q9HCQ5

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


    UniProtKB/Swiss-Prot: GALT9_HUMAN, Q9HCQ5
    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


    GALNT9 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: GALT9_HUMAN, Q9HCQ5
    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. Does not glycosylate
    apomucin or SDC3
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

         Enzyme Number (IUBMB): EC 2.4.1.411 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity NAS10978536
    GO:0016740transferase activity ----
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    GALNT9 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidGALNT9 3' UTR sequence
    Inhib. RNA
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    (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
    GALT9_HUMAN, Q9HCQ5: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    extracellular3
    cytosol1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    GALNT9 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 GALNT9 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 GALNT9
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for GALNT9):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALT9_HUMAN, Q9HCQ5
    Pathway: Protein modification; protein glycosylation


    GALNT9 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GALNT9: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GALNT9

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

    Selected Interacting proteins for GALNT9 (ENSP000003804884) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT10ENSP000002971074STRING: ENSP00000297107
    GALNT11ENSP000003158354STRING: ENSP00000315835
    GALNT12ENSP000003641504STRING: ENSP00000364150
    GALNT14ENSP000002889884STRING: ENSP00000288988
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation ----
    GO:0006493protein O-linked glycosylation NAS10978536
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    GALNT9 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
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    Browse Tocris compounds for GALNT9 (GALT9)

    5 HMDB Compounds for GALNT9    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,
    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 GALNT9 gene (2 alternative transcripts): 
    NM_001122636.1  NM_021808.3  

    Unigene Clusters for GALNT9:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)
    Hs.301062  [show with all ESTs], Hs.658249  [show with all ESTs]
    Unigene Representative Sequences: NM_001122636, AK092825
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397325(uc001uka.3) ENST00000411988 ENST00000328957(uc001ukb.3 uc001ukc.4)
    ENST00000541995 ENST00000538356 ENST00000542942 ENST00000424720(uc009zys.3)
    ENST00000535208 ENST00000540493 ENST00000535228(uc009zyr.3)
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    hsa-miR-124 hsa-miR-506 hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmidGALNT9 3' UTR sequence
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    Additional mRNA sequence: 

    AK092825.1 BC157845.1 BC171844.1 

    10 DOTS entries:

    DT.95366782  DT.91748318  DT.95365156  DT.95365157  DT.99936579  DT.121179916  DT.100751930  DT.100751931 
    DT.97768808  DT.99935521 

    Selected AceView cDNA sequences (see all 31):

    BF940925 BE048657 BM672467 BX099049 AW294162 AI202851 BF437227 BI760629 
    BM687318 NM_021808 AI870792 AJ505960 BU622800 CB154648 BI760734 AF458594 
    BG715648 AI695868 BM715840 BF511723 AA974365 BI822362 H49424 BI756878 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GALNT9 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b · 18c
    SP1:        -           -     -     -                                   -     -     -     -     -     -                                                   
    SP2:                                                                          -     -     -     -     -                                                   
    SP3:                                                                                            -     -                                                   
    SP4:                                                                                                                                                      
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for GALNT9

    (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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    GALNT9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAGCGACA
    GALNT9 Expression
    About this image


    GALNT9 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)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
    GALNT9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALNT9 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.301062 Hs.658249

    UniProtKB/Swiss-Prot: GALT9_HUMAN, Q9HCQ5
    Tissue specificity: Specifically expressed in brain. Not expressed in heart, placenta, lung, liver, skeletal
    muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. In
    brain, it is expressed in cerebellum, frontal lobe, temporal lobe, putamen and spinal cord, weakly expressed in
    cerebral cortex. Not expressed in medulla and occipital pole

        Pathway & Disease-focused RT2 Profiler PCR Array including GALNT9: 
              Glycosylation in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT9

    (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 animals.

    Orthologs for GALNT9 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt91 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 86.01(n)1
    91.54(a)1
      5 (53.66 cM)5
    2316051  NM_198306.31  NP_938048.21 
     1105443455 
    chicken
    (Gallus gallus)
    Aves GALNT91 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 79.38(n)
    90.22(a)
      416796  XM_415088.3  XP_415088.2 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT96
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-a...
    31(a)
    1 ↔ 1
    GL343364.1(231255-301632)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia galnt91 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 74.07(n)
    87.73(a)
      100490061  XM_002931877.2  XP_002931923.1 
    zebrafish
    (Danio rerio)
    Actinopterygii galnt91 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 75.23(n)
    83.58(a)
      797549  XM_001337982.5  XP_001338018.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73043 polypeptide
    N-acetylgalactosaminyltransferase
    32(a)   71F1   --
    worm
    (Caenorhabditis elegans)
    Secernentea gly-86
    Protein GLY-8 (gly-8) mRNA, complete cds
    8(a)
    1 → many
    III(11624991-11628238) WBGene00001633


    ENSEMBL Gene Tree for GALNT9 (if available)
    TreeFam Gene Tree for GALNT9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GALNT9 gene
    GALNT182  GALNT82  WBSCR172  
    Selected SIMAP similar genes for GALNT9 using alignment to 8 protein entries:     GALT9_HUMAN (see all proteins) (see all similar genes):
    WBSCR17    GALNT19    DKFZp434I2216    GALNTL6    GALNT18    GALNTL4
    GALNT11    GALNT8    GALNT3    GALNT14    GALNT1    GALNT16
    GalNAc-T16    GALNT6    GALNT13    GalNAc-T10    GALNTL5    GALNT2

    GALNT9 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 GALNT9 (see all 575)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1423003301,2
    C--132680527(+) CCTCGA/TCCTCC 1 -- ds50010--------
    rs1457199591,2
    C--132680558(+) CTGGA-/GTCCCT 1 -- ds50010--------
    rs1832096811,2
    --132680567(+) CTGGCA/GTCTGC 1 -- ds50010--------
    rs1887549081,2
    --132680583(+) CCTCTC/GTGCGT 1 -- ds50010--------
    rs1932906051,2
    --132680587(+) TCTGCA/GTCATG 1 -- ds50010--------
    rs766070641,2
    C,F--132680596(+) TGTGCA/GTGCAG 1 -- ds50012Minor allele frequency- G:0.12CSA WA 120
    rs1163359981,2
    --132680712(+) GCTCTC/TCTCCA 1 -- ds50010--------
    rs802282741,2
    C,F--132680724(+) TTTCCC/TGGCTG 1 -- ds50012Minor allele frequency- T:0.07CSA WA 119
    rs1175753741,2
    C,F--132680734(+) GCATCG/AAGTTC 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs756595111,2
    C,F--132680756(+) GCACAC/TGTGAG 1 -- ds50011Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for GALNT9 (132680917 - 132905935 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GALNT9 (see all 86):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746925CNV Deletion23290073
    esv1357697CNV Deletion17803354
    esv2665547CNV Deletion23128226
    esv1005562CNV Deletion20482838
    esv2746946CNV Deletion23290073
    esv2746953CNV Deletion23290073
    esv2746929CNV Deletion23290073
    esv1095643CNV Deletion17803354
    esv2746935CNV Deletion23290073
    esv2746951CNV Deletion23290073

    Human Gene Mutation Database (HGMD): GALNT9
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing GALNT9
    DNA2.0 Custom Variant and Variant Library Synthesis for GALNT9

    (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: 606251    OMIM disorders: --

    8 diseases for GALNT9:    
    About MalaCards
    sideroblastic anemia    williams-beuren syndrome    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    cerebritis    neuroblastoma    neuronitis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for GALNT9:
    Williams-Beuren syndrome

    GALNT9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GALNT9

    Export disorders for GALNT9 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 GALNT9 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with GALNT9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a new human UDP-N-acetyl-alpha-D- galactosamine:polypeptide N-acetylgalactosaminyltransferase, designated pp-GalNAc-T13, that is specifically expressed in neurons and synthesizes GalNAc alpha-serine/threonine antigen. (PubMed id 12407114)1, 2, 3 Zhang Y....Narimatsu H. (J. Biol. Chem. 2003)
    2. Brain-specific expression of a novel human UDP-GalNAc:polypeptide N- acetylgalactosaminyltransferase (GalNAc-T9). (PubMed id 10978536)1, 2, 3 Toba S.... Kurosaka A. (Biochim. Biophys. Acta 2000)
    3. GALNT9 gene expression is a prognostic marker in neuroblastoma patients. (PubMed id 23136245)1 Berois N....Osinaga E. (Clin. Chem. 2013)
    4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (Biochem. Biophys. Res. Commun. 2006)
    5. 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)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
    10. Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene. (PubMed id 15744064)9 Nakamura N....Kurosaka A. (amp 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: 50614 HGNC: 4131 AceView: GALNT9 Ensembl:ENSG00000182870 euGenes: HUgn50614
    ECgene: GALNT9 Kegg: 50614 H-InvDB: GALNT9

    (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 GALNT9 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GALNT9
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_491

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GALNT9 gene:
    Search GeneIP for patents involving GALNT9

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



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