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

GALNT13 Gene

protein-coding   GIFtS: 61
GCID: GC02P154765

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 13 (GalNAc-T13)1 2
     KIAA19183 5
Polypeptide GalNAc Transferase 132 3     UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 131
Protein-UDP Acetylgalactosaminyltransferase 132 3     H_NH0187G20.12
GalNAc-T132 3     WUGSC:H_NH0187G20.12
Pp-GaNTase 132 3     GalNAc Transferase 132
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 132 3     Polypeptide N-Acetylgalactosaminyltransferase 132
EC 2.4.1.413 8     

External Ids:    HGNC: 232421   Entrez Gene: 1148052   Ensembl: ENSG000001442787   OMIM: 6083695   UniProtKB: Q8IUC83   

Export aliases for GALNT13 gene to outside databases

Previous GC identifers: GC02P153525 GC02P155003 GC02P154553 GC02P154436 GC02P146614


(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 GALNT13 Gene:
The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide
N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins
(see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a
serine or threonine residue.(supplied by OMIM, Apr 2004)

GeneCards Summary for GALNT13 Gene: 
GALNT13 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)) is a protein-coding gene. Diseases associated with GALNT13 include tricuspid valve insufficiency, and osteochondrosis, 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 GALNT6.

UniProtKB/Swiss-Prot: GLT13_HUMAN, Q8IUC8
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 much stronger
activity than GALNT1 to transfer GalNAc to mucin peptides, such as Muc5Ac and Muc7. Able to glycosylate SDC3. May
be responsible for the synthesis of Tn antigen in neuronal cells

Gene Wiki entry for GALNT13 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_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GALNT13 gene promoter:
         USF-1:USF-2   CUTL1   POU3F2   MEF-2A   HEN1   E2F-1   E2F   USF-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALNT13 promoter sequence
   Search SABiosciences Chromatin IP Primers for GALNT13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALNT13


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

Entrez Gene cytogenetic band: 2q24.1   Ensembl cytogenetic band:  2q23.3   HGNC cytogenetic band: 2q24.1

GALNT13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT13 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P154765:  view genomic region     (about GC identifiers)

Start:
154,728,426 bp from pter      End:
155,310,489 bp from pter
Size:
582,064 bases      Orientation:
plus 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: GLT13_HUMAN, Q8IUC8 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 13  
Size: 556 amino acids; 64051 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=AAF19246.1; Type=Erroneous initiation; Sequence=BAC85542.1; Type=Miscellaneous
discrepancy; Note=Chimera. Chimeric at the N-terminus;
Secondary accessions: Q6ZWG1 Q96PX0 Q9UIE5
Alternative splicing: 2 isoforms:  Q8IUC8-1   Q8IUC8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GALNT13: NX_Q8IUC8

Explore proteomics data for GALNT13 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IUC8

  • 4/29 DME Specific Peptides for GALNT13 (Q8IUC8) (see all 29)
     VVCPIID  PTMAGGL  LNRSLPD  GLIRARL 

    GALNT13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GALNT13 Protein Expression
    REFSEQ proteins: NP_443149.2  
    ENSEMBL proteins: 
     ENSP00000376570   ENSP00000414403   ENSP00000387239   ENSP00000389447   ENSP00000406237  
     ENSP00000391469   ENSP00000396612  
    Reactome Protein details: Q8IUC8
    Human Recombinant Protein Products for GALNT13: 
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    Cloud-Clone Corp. Proteins for GALNT13 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0016021integral to membrane IEA--

    GALNT13 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 Q8IUC8

    ProtoNet protein and cluster: Q8IUC8

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


    UniProtKB/Swiss-Prot: GLT13_HUMAN, Q8IUC8
    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


    GALNT13 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: GLT13_HUMAN, Q8IUC8
    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 much stronger
    activity than GALNT1 to transfer GalNAc to mucin peptides, such as Muc5Ac and Muc7. Able to glycosylate SDC3. May
    be responsible for the synthesis of Tn antigen in neuronal cells
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
         
    GALNT13 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GALNT13:
     Increased G1 DNA content 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Galnt13):
     normal 

    GALNT13 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GALNT13 
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    SwitchGear 3'UTR luciferase reporter plasmidGALNT13 3' UTR sequence
    Inhib. RNA
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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 GALNT13 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 GALNT13
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification


    2         Kegg Pathways  (Kegg details for GALNT13):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GLT13_HUMAN, Q8IUC8
    Pathway: Protein modification; protein glycosylation


    GALNT13 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GALNT13

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

    5/42 Interacting proteins for GALNT13 (Q8IUC83 ENSP000003765704) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKIV2LQ154773, ENSP000003645434I2D: score=1 STRING: ENSP00000364543
    ENSG00000206353Q154773I2D: score=1 
    ENSG00000223493Q154773I2D: score=1 
    ENSG00000225737Q154773I2D: score=1 
    ENSG00000228896Q154773I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

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

    GALNT13 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
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    Browse Tocris compounds for GALNT13 (GLT13)

    5 HMDB Compounds for GALNT13    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 GALNT13 / GLT13

    (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 GALNT13 gene: 
    NM_052917.2  

    Unigene Cluster for GALNT13:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)
    Hs.470277  [show with all ESTs]
    Unigene Representative Sequence: NM_052917
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392825(uc002tyr.4 uc002tyt.4 uc010fod.3) ENST00000434213
    ENST00000409237 ENST00000431076(uc010foc.1) ENST00000487047 ENST00000450838
    ENST00000422126 ENST00000453715 ENST00000489553 ENST00000494805
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    Additional mRNA sequence: 

    AB067505.1 AB078142.1 AJ505991.2 AK123152.1 AK131195.1 AK308615.1 AK308675.1 BC101031.1 
    BC101032.2 BC101033.1 BC101034.2 

    5 DOTS entries:

    DT.410777  DT.75175741  DT.101954707  DT.120994993  DT.120995003 

    24/49 AceView cDNA sequences (see all 49):

    Z40609 BX103320 BQ897208 AA135766 AB067505 Z44824 NM_052917 BG255368 
    AJ505991 AW297957 BP873616 AW298759 BF514871 CB178573 BP873360 BX279760 
    BU621669 AK131195 BE787255 H23028 BU101783 BU101877 BG194030 AA135979 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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

    GALNT13 expression in normal human tissues (normalized intensities)      GALNT13 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGCAGGGG
    GALNT13 Expression
    About this image


    GALNT13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Nkx2-1 GFP+ cells ( Efficient derivation of purified lung and thyroid progenitor...
     
     Endothelium (Cardiovascular System)
             blood vessel   
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose

    See GALNT13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GALNT13

    SOURCE GeneReport for Unigene cluster: Hs.470277

    UniProtKB/Swiss-Prot: GLT13_HUMAN, Q8IUC8
    Tissue specificity: Specifically expressed in neuronal cells. Expressed in fetal brain, whole adult brain,
    cerebral cortex and cerebellum. Not expressed in other tissues tested

        SABiosciences Expression via Pathway-Focused PCR Array including GALNT13: 
              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 GALNT13

    (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 animals.

    Orthologs for GALNT13 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt131 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 92.57(n)1
    99.46(a)1
      2 (30.77 cM)5
    2717861  NM_173030.21  NP_766618.21 
     544363175 
    chicken
    (Gallus gallus)
    Aves GALNT131 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 80.18(n)
    93.87(a)
      424319  XM_422165.2  XP_422165.2 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT136
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-a...
    89(a)
    1 ↔ 1
    GL343296.1(255017-508964)
    zebrafish
    (Danio rerio)
    Actinopterygii galnt131 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 76.28(n)
    88.47(a)
      100330695  XM_002663311.2  XP_002663357.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta pgant56
    CG304636
    --
    55(a)
    39(a)
    1 ↔ many
    possible ortholog
    2L(5072170-5093592)
    2R(12560966-12618889)
    worm
    (Caenorhabditis elegans)
    Secernentea gly-36
    gly-56
    Polypeptide N-acetylgalactosaminyltransferase 5
    46(a)
    40(a)
    1 ↔ many
    possible ortholog
    III(7914307-7917769)
    III(13187392-13204894)


    ENSEMBL Gene Tree for GALNT13 (if available)
    TreeFam Gene Tree for GALNT13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GALNT13 gene
    GALNT62  POC1B-GALNT42  GALNT122  GALNT52  GALNT72  GALNT12  GALNTL62  GALNT142  
    GALNTL52  GALNT32  GALNT22  GALNT102  GALNT42  GALNT162  GALNT112  
    18/25 SIMAP similar genes for GALNT13 using alignment to 10 protein entries:     GLT13_HUMAN (see all proteins) (see all similar genes):
    GALNTL2    GALNT1    GALNTL6    GALNT2    GALNTL5    GALNT4
    GALNT14    GALNT15    GALNT6    GALNT5    GALNT11    GalNAc-T10
    GalNAc-T16    POC1B-GALNT4    GALNT3    GALNT10    GALNT16    GALNT7

    GALNT13 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

    10/10943 SNPs in GALNT13 are shown (see all 10943)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs106487921,2
    C--154137005(+) CCTAC-/GTgtgtg 1 -- int10--------
    rs1826821741,2
    C--154726480(+) TTGAAC/GGATGA 1 -- us2k10--------
    rs1880276881,2
    --154726551(+) AAGTAC/TGCCAC 1 -- us2k10--------
    rs1397021131,2
    --154726656(+) TTACAA/GATGTT 1 -- us2k10--------
    rs360507171,2
    C,F--154726702(+) TTATGC/GACCAA 1 -- us2k15Minor allele frequency- G:0.14NA WA 244
    rs1919313951,2
    --154726842(+) TTTTTA/TAAGAG 1 -- us2k10--------
    rs14446871,2
    C--154727010(-) TGCTCC/TCTCTA 1 -- us2k111Minor allele frequency- T:0.38NA WA CSA EA 373
    rs1826395321,2
    --154727078(+) AAGCAC/TCTCTG 1 -- us2k10--------
    rs14446861,2
    C,A,H--154727135(-) TTAATA/GTCTCC 1 -- us2k110Minor allele frequency- G:0.38NA WA CSA EA 371
    rs1452169341,2
    --154727155(+) TAACAC/TAGAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GALNT13 (154728426 - 154978426 bp, first 250kb of GALNT13)

    Structural Variations
         Database of Genomic Variants (DGV) 10/37 variations for GALNT13 (see all 37):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv741e199CNV Deletion23128226
    esv2720978CNV Deletion23290073
    esv2674091CNV Deletion23128226
    esv2720979CNV Deletion23290073
    esv2660348CNV Deletion23128226
    esv2658246CNV Deletion23128226
    esv1519312CNV Deletion17803354
    esv2350918CNV Deletion18987734
    esv1008587CNV Deletion20482838
    esv2678681CNV Deletion23128226

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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: 608369    OMIM disorders: --

    8 diseases for GALNT13:    About MalaCards
    tricuspid valve insufficiency    osteochondrosis    sickle cell disease    esophageal squamous cell carcinoma
    cerebritis    esophagitis    squamous cell carcinoma    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for GALNT13:
    Tricuspid valve insufficiency     Osteochondrosis

    GALNT13 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GALNT13
    Human Genome Epidemiology (HuGE) Navigator: GALNT13 (3 documents)

    Export disorders for GALNT13 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 GALNT13 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with GALNT13)
        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. (2003)
    2. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2, 3 Nagase T....Ohara O. (2001)
    3. GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1, 4 Aouizerat B.E....Tseng Z.H. (2011)
    4. 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)
    5. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1, 4 Ng D....Taylor P.R. (2008)
    6. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PubMed id 17903295)1, 4 Lunetta K.L....Murabito J.M. (2007)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    10. A novel molecular signature for elevated tricuspid reg urgitation velocity in sickle cell disease. (PubMed id 22679008)1 Desai A.A....Machado R.F. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 114805 HGNC: 23242 AceView: GALNT13 Ensembl:ENSG00000144278 euGenes: HUgn114805
    ECgene: GALNT13 Kegg: 114805 H-InvDB: GALNT13

    (According to HUGE)
    About This Section
    HUGE: KIAA1918

    (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 GALNT13 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_496

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GALNT13 gene:
    Search GeneIP for patents involving GALNT13

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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