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GALNT2 Gene

protein-coding   GIFtS: 64
GCID: GC01P230193

Polypeptide N-Acetylgalactosaminyltransferase 2

(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 21 2     Pp-GaNTase 22 3
Polypeptide GalNAc Transferase 21 2 3     UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 22 3
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 2 (GalNAc-T2)1 2
     EC 2.4.1.413 8
Protein-UDP Acetylgalactosaminyltransferase 22 3     UDP-GalNAc Transferase 22
GalNAc-T22 3     

External Ids:    HGNC: 41241   Entrez Gene: 25902   Ensembl: ENSG000001436417   OMIM: 6022745   UniProtKB: Q104713   

Export aliases for GALNT2 gene to outside databases

Previous GC identifers: GC01P228683 GC01P225931 GC01P226676 GC01P227237 GC01P227238 GC01P226509 GC01P228269 GC01P200802


(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 GALNT2 Gene:
This gene encodes polypeptide N-acetylgalactosaminyltransferase 2, a member of the GalNAc-transferases family.
This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the
first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and
initiation of O-glycosylation in a cell is regulated by a repertoire of GalNAc-transferases. (provided by RefSeq,
Jul 2008)

GeneCards Summary for GALNT2 Gene:
GALNT2 (polypeptide N-acetylgalactosaminyltransferase 2) is a protein-coding gene. Diseases associated with GALNT2 include hypertriglyceridemia, and tonsillitis. GO annotations related to this gene include manganese ion binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT12.

UniProtKB/Swiss-Prot: GALT2_HUMAN, Q10471
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. Has a broad spectrum
of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the
immunoglobulin A1 (IgA1) hinge region

Gene Wiki entry for GALNT2 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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Regulatory elements:
   Regulatory transcription factor binding sites in the GALNT2 gene promoter:
         ISGF-3   Pbx1a   GATA-3   RelA   HNF-1A   PPAR-alpha   CP2   HNF-1   STAT3   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALNT2 promoter sequence
   Search Chromatin IP Primers for GALNT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALNT2


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

Entrez Gene cytogenetic band: 1q41-q42   Ensembl cytogenetic band:  1q42.13   HGNC cytogenetic band: 1q41-q42

GALNT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P230193:  view genomic region     (about GC identifiers)

Start:
230,193,536 bp from pter      End:
230,417,875 bp from pter
Size:
224,340 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GALT2_HUMAN, Q10471 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 2  
Size: 571 amino acids; 64733 Da
Cofactor: Manganese
2 PDB 3D structures from and Proteopedia for GALNT2:
2FFU (3D)        2FFV (3D)    
Secondary accessions: A8K1Y3 C5HU00 Q9NPY4

Explore the universe of human proteins at neXtProt for GALNT2: NX_Q10471

Explore proteomics data for GALNT2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys103
  • Glycosylation2 at Ser67, Thr70, Thr368
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GALNT2 (Q10471) (see all 11)
     LEIIPCS  WGGENLE  FLDSHCE  PCSRVGH 


    See GALNT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004472.1  
    ENSEMBL proteins: 
     ENSP00000355632   ENSP00000445017   ENSP00000444346  
    Reactome Protein details: Q10471

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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 Q10471

    ProtoNet protein and cluster: Q10471

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


    UniProtKB/Swiss-Prot: GALT2_HUMAN, Q10471
    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


    GALNT2 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: GALT2_HUMAN, Q10471
    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. Has a broad spectrum
    of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the
    immunoglobulin A1 (IgA1) hinge region
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

         Genatlas biochemistry entry for GALNT2:
    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 IDA12438318
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0030145manganese ion binding IDA16434399
         
    GALNT2 for ontologies           About GeneDecksing


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    Selected qRT-PCR Assays for microRNAs that regulate GALNT2 (see all 67):
    hsa-miR-549 hsa-miR-30d hsa-miR-3653 hsa-miR-30a hsa-miR-3148 hsa-miR-200b hsa-miR-186* hsa-let-7i
    SwitchGear 3'UTR luciferase reporter plasmidGALNT2 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
    GALT2_HUMAN, Q10471: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted.
    Note=Resides preferentially in the trans and medial parts of the Golgi stack. A secreted form also exists
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus5
    endoplasmic reticulum1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005576extracellular region IEA--
    GO:0005794colocalizes with Golgi apparatus IDA12506059
    GO:0005795Golgi stack IDA9852147
    GO:0016021integral component of membrane ----

    GALNT2 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 GALNT2 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 GALNT2
        O-linked glycosylation of mucins


    2 Kegg Pathways  (Kegg details for GALNT2):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALT2_HUMAN, Q10471
    Pathway: Protein modification; protein glycosylation


    GALNT2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GALNT2: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GALNT2

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

    Selected Interacting proteins for GALNT2 (Q104713 ENSP000003556324) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC1P159413, ENSP000003389834I2D: score=1 STRING: ENSP00000338983
    BTBD9Q96Q073I2D: score=4 
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    C1GALT1C1ENSP000003043644STRING: ENSP00000304364
    GALNT1ENSP000002691954STRING: ENSP00000269195
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002378immunoglobulin biosynthetic process IDA12438318
    GO:0006486protein glycosylation ----
    GO:0006493protein O-linked glycosylation IDA16434399
    GO:0016266O-glycan processing TAS--
    GO:0018242protein O-linked glycosylation via serine IDA12438318

    GALNT2 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 GALNT2 (GALT2)

    5 HMDB Compounds for GALNT2    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 GALNT2 gene: 
    NM_004481.3  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000494106 ENST00000366672(uc010pvz.1 uc010pvy.1 uc010pwa.1)
    ENST00000488903 ENST00000485438(uc001htu.2) ENST00000492568 ENST00000543760
    ENST00000541865
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    hsa-miR-549 hsa-miR-30d hsa-miR-3653 hsa-miR-30a hsa-miR-3148 hsa-miR-200b hsa-miR-186* hsa-let-7i
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    Selected AceView cDNA sequences (see all 345):

    T08634 AA844190 BQ928171 AI365184 AA758597 AI693679 AL561414 BC050583 
    BQ279075 AA856896 AA310747 BG676235 AK056187 BM720307 CK724972 BF917531 
    AK097996 CN481803 AA586320 AA856991 BM677931 AA515392 BU630164 Z46067 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GALNT2 (see all 9)    About this scheme

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

    ExUns: 18b · 18c
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for GALNT2

    (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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    GALNT2 expression in normal human tissues (normalized intensities)      GALNT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACACAGTGTG
    GALNT2 Expression
    About this image


    GALNT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    GALNT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALNT2 Protein Expression

    UniProtKB/Swiss-Prot: GALT2_HUMAN, Q10471
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including GALNT2: 
              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 GALNT2

    (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 GALNT2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt21 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 87.37(n)1
    95.79(a)1
      8 (72.52 cM)5
    1081481  NM_139272.21  NP_644678.21 
     1242313915 
    chicken
    (Gallus gallus)
    Aves GALNT21 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 80.88(n)
    94.77(a)
      421540  XM_419581.4  XP_419581.4 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT26
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-a...
    89(a)
    1 ↔ 1
    1(222556365-222633913)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.211802 Xenopus laevis transcribed sequence with moderate similarity more 78(n)    BU907478.1 
    zebrafish
    (Danio rerio)
    Actinopterygii galnt21 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 77.06(n)
    87.1(a)
      570248  NM_001128351.1  NP_001121823.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG32543
    pgant21
    polypeptide
    N-acetylgalactosaminyltransferase3
    polypeptide GalNAc transferase 21
    66(a)
    (best of 7)3
    63.9(n)1
    66.6(a)1
      23F13
    335561  NM_134929.31  NP_608773.21 
    worm
    (Caenorhabditis elegans)
    Secernentea H38K22.5c3
    gly-41
    Glycosyl transferases3
    gly-41
    47(a)
    (best of 5)3
    52.38(n)1
    54.16(a)1
      III(4397051-4399739)3
    1803021  NM_001029045.31  NP_001024216.11 


    ENSEMBL Gene Tree for GALNT2 (if available)
    TreeFam Gene Tree for GALNT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GALNT2 gene
    GALNT122  GALNT12  GALNTL62  GALNT32  GALNT102  GALNT132  GALNT62  POC1B-GALNT42  
    GALNT152  GALNT72  GALNT52  GALNT142  GALNTL52  GALNT42  GALNT162  GALNT112  
    Selected SIMAP similar genes for GALNT2 using alignment to 3 protein entries:     GALT2_HUMAN (see all proteins) (see all similar genes):
    GalNAc-T16    GALNT16    GALNT14    GALNT13    GALNT1    GALNTL6
    GALNTL5    GALNT6    GALNT11    GALNT3    GALNT15    POC1B-GALNT4
    GALNT4    GalNAc-T10    GALNT7    GALNT5    GALNT10    GALNT19

    GALNT2 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 GALNT2 (see all 5071)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1131595601,2
    C--200705452(+) TGTTAA/TTTTGA 1 -- int10--------
    rs115817751,2
    A,H--200716145(+) TTTTTG/TTTTTT 1 -- int1 trp30--------
    rs286093371,2
    C--200716146(+) TTTTTG/TTTTTT 1 -- int1 trp31Minor allele frequency- T:0.50WA 2
    rs679130071,2
    C--200717980(+) CCACC-/TGTGTGT 1 -- int11Minor allele frequency- TG:0.00CSA 2
    rs1132957781,2
    C--200724798(+) GGGAAATATAC/-
            
    ATGTA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs581314211,2
    C--200724800(+) GAAAT-/ATACAT
            
    GTACA
    1 -- int10--------
    rs1903432171,2
    C--200724800(+) GAAATA/GTACAT 1 -- int10--------
    rs1815649891,2
    C--200724803(+) ATATAA/CATGTA 1 -- int10--------
    rs1477933011,2
    C--200732775(+) ACTAT-/CCGA  
            
    CCGAC
    1 -- int10--------
    rs1820372921,2
    --200732780(+) TCCGAA/CCGCAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for GALNT2 (230193536 - 230417875 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GALNT2 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724628CNV Deletion23290073
    esv2724572CNV Deletion23290073
    esv2724595CNV Deletion23290073
    esv2724606CNV Deletion23290073
    esv2668920CNV Deletion23128226
    esv2724584CNV Deletion23290073
    esv2724617CNV Deletion23290073
    nsv827186CNV Loss20364138
    nsv520656CNV Loss19592680
    nsv832825CNV Loss17160897

    Human Gene Mutation Database (HGMD): GALNT2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GALNT2
    DNA2.0 Custom Variant and Variant Library Synthesis for GALNT2

    (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: 602274    OMIM disorders: --

    11 diseases for GALNT2:    About MalaCards
    hypertriglyceridemia    tonsillitis    dementia    coronary artery disease
    crohn's disease    atherosclerosis    hepatocellular carcinoma    cerebritis
    malaria    endotheliitis    prostatitis


    GALNT2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GALNT2
    Human Genome Epidemiology (HuGE) Navigator: GALNT2 (24 documents)

    Export disorders for GALNT2 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 GALNT2 gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with GALNT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D- galactosamine:polypeptide N-acetylgalactosaminyltransferase. (PubMed id 7592619)1, 2, 3 White T....Clausen H. (J. Biol. Chem. 1995)
    2. Initiation of O-glycan synthesis in IgA1 hinge region is determined by a single enzyme, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 2. (PubMed id 12438318)1, 2, 9 Iwasaki H.... Narimatsu H. (J. Biol. Chem. 2003)
    3. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (PubMed id 22399527)1, 4 Kristiansson K....Salomaa V. (Circ Cardiovasc Genet 2012)
    4. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PubMed id 20167577)1, 4 Reynolds C.A....Prince J.A. (Hum. Mol. Genet. 2010)
    5. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (PubMed id 20864672)1, 4 Waterworth D.M....Sandhu M.S. (Arterioscler. Thromb. Vasc. Biol. 2010)
    6. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    7. Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study. (PubMed id 20570916)1, 4 Keebler M.E....Kathiresan S. (Circ Cardiovasc Genet 2010)
    8. Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples. (PubMed id 20160193)1, 4 Weissglas-Volkov D....Pajukanta P. (Circ Cardiovasc Genet 2010)
    9. 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)
    10. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (Nature 2010)

    (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: 2590 HGNC: 4124 AceView: GALNT2 Ensembl:ENSG00000143641 euGenes: HUgn2590
    ECgene: GALNT2 Kegg: 2590 H-InvDB: GALNT2

    (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 GALNT2 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GALNT2
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_484

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GALNT2 gene:
    Search GeneIP for patents involving GALNT2

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



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