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

GALNT3 Gene

protein-coding   GIFtS: 64
GCID: GC02M166567

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 3 (GalNAc-T3)1 2
     EC 2.4.1.413 8
Polypeptide GalNAc Transferase 32 3     HFTC2 5
Protein-UDP Acetylgalactosaminyltransferase 32 3     HHS2 5
GalNAc-T32 3     GalNAc Transferase 32
Pp-GaNTase 32 3     Polypeptide GalNAc-Transferase T32
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 32 3     Polypeptide N-Acetylgalactosaminyltransferase 32

External Ids:    HGNC: 41251   Entrez Gene: 25912   Ensembl: ENSG000001153397   OMIM: 6017565   UniProtKB: Q144353   

Export aliases for GALNT3 gene to outside databases

Previous GC identifers: GC02M164658 GC02M165145 GC02M166805 GC02M166428 GC02M166311 GC02M158486


(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 GALNT3 Gene:
This gene encodes UDP-GalNAc transferase 3, 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 is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly
homologous to other family members, however the enzymes have different substrate specificities. (provided by
RefSeq, Jul 2008)

GeneCards Summary for GALNT3 Gene: 
GALNT3 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)) is a protein-coding gene. Diseases associated with GALNT3 include hyperostosis-hyperphosphatemia syndrome, and hyperphosphatemic familial tumoral calcinosis, galnt3-related, 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 and calcium ion binding. An important paralog of this gene is GALNT6.

UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
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 activity toward
HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates
FGF23. Plays a central role in phosphate homeostasis

Gene Wiki entry for GALNT3 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 GALNT3 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   C/EBPbeta   oct-B3   oct-B2   POU2F2   POU2F1   POU2F1a   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GALNT3 promoter sequence
   Search SABiosciences Chromatin IP Primers for GALNT3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALNT3


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

Entrez Gene cytogenetic band: 2q24-q31   Ensembl cytogenetic band:  2q24.3   HGNC cytogenetic band: 2q24-q31

GALNT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M166567:  view genomic region     (about GC identifiers)

Start:
166,604,101 bp from pter      End:
166,651,192 bp from pter
Size:
47,092 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: GALT3_HUMAN, Q14435 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 3  
Size: 633 amino acids; 72610 Da
Cofactor: Manganese (By similarity)
Cofactor: Calcium (By similarity)
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Resides
preferentially in the trans and medial parts of the Golgi stack
Miscellaneous: Overexpressed in many differentiated carcinomas, suggesting that it may serve as a marker of tumor
differentiation
Sequence caution: Sequence=AAH56246.1; Type=Erroneous initiation;
Secondary accessions: Q53TG9 Q7Z476
Alternative splicing: 2 isoforms:  Q14435-1   Q14435-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GALNT3: NX_Q14435

Explore proteomics data for GALNT3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14435

  • 4/15 DME Specific Peptides for GALNT3 (Q14435) (see all 15)
     FHNEAWS  GWLEPLL  LLRTVHS  AGGLFSI 

    GALNT3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GALNT3 Protein Expression
    REFSEQ proteins: NP_004473.2  
    ENSEMBL proteins: 
     ENSP00000376465   ENSP00000386955   ENSP00000412643   ENSP00000391104   ENSP00000397112  
     ENSP00000413477   ENSP00000413694   ENSP00000399880  
    Reactome Protein details: Q14435
    Human Recombinant Protein Products for GALNT3: 
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    Cloud-Clone Corp. Proteins for GALNT3 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794colocalizes with Golgi apparatus IDA12506059
    GO:0016020membrane TAS8663203

    GALNT3 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 Q14435

    ProtoNet protein and cluster: Q14435

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


    UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
    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


    GALNT3 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: GALT3_HUMAN, Q14435
    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 activity toward
    HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates
    FGF23. Plays a central role in phosphate homeostasis
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP +
    N-acetyl-alpha-D-galactosaminyl-polypeptide

         Genatlas biochemistry entry for GALNT3:
    galactosamine

         Enzyme Number (IUBMB): EC 2.4.1.411 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IDA9295285
    GO:0005509calcium ion binding IDA9295285
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0030145manganese ion binding IDA9295285
         
    GALNT3 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Galnt3):
     cardiovascular system  craniofacial  digestive/alimentary  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  integument  limbs/digits/tail  other  renal/urinary system 
     reproductive system  skeleton 

    GALNT3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GALNT3: Galnt3tm1.1Cfg Galnt3tm1Mjec

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GALNT3 
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    SwitchGear 3'UTR luciferase reporter plasmidGALNT3 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT3


    (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 GALNT3 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 GALNT3
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification


    2         Kegg Pathways  (Kegg details for GALNT3):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
    Pathway: Protein modification; protein glycosylation


    GALNT3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GALNT3

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

    5/36 Interacting proteins for GALNT3 (ENSP000003764654) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    C1GALT1C1ENSP000003043644STRING: ENSP00000304364
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT11ENSP000003158354STRING: ENSP00000315835
    GALNT12ENSP000003641504STRING: ENSP00000364150
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process NAS9592121
    GO:0016266O-glycan processing TAS--
    GO:0018242protein O-linked glycosylation via serine IDA9295285
    GO:0018243protein O-linked glycosylation via threonine IDA16638743
    GO:0043687post-translational protein modification TAS--

    GALNT3 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

    GALNT3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GALNT3 (GALT3)

    5 HMDB Compounds for GALNT3    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--

    1 Novoseek inferred chemical compound relationship for GALNT3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 7.1 1 16567474 (1)

    Search CenterWatch for drugs/clinical trials and news about GALNT3 / GALT3

    (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 GALNT3 gene: 
    NM_004482.3  

    Unigene Cluster for GALNT3:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
    Hs.170986  [show with all ESTs]
    Unigene Representative Sequence: NM_004482
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392701(uc010fph.1 uc002udi.2 uc010fpi.1) ENST00000409882
    ENST00000412248 ENST00000437849 ENST00000463254 ENST00000431484 ENST00000414977
    ENST00000422973 ENST00000447156
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    Additional mRNA sequence: 

    AJ505954.1 AK307391.1 AK313389.1 BC056246.1 BC113565.1 BC113567.1 BX647473.1 X92689.1 

    5 DOTS entries:

    DT.101957921  DT.314484  DT.101962576  DT.121017732  DT.95267616 

    24/187 AceView cDNA sequences (see all 187):

    CK430691 BM851511 CB850640 AA827219 BE645926 AA262123 BM978908 AA337550 
    AI888881 AA639964 CB123980 BX647473 CB217140 AW469254 AI659514 CA395873 
    AI679332 AL702637 AI679315 BE670283 BU688645 AV728824 AA279141 AW276398 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GALNT3 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^
    SP1:                                                                                                        -     -                 -                           
    SP2:                                                                                                              -                 -                           
    SP3:                                                                                                        -                                                   
    SP4:                    -     -                                                                                                                                 
    SP5:                          -     -                                                                                                                           

    ExUns: 14a · 14b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for GALNT3

    (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

    GALNT3 expression in normal human tissues (normalized intensities)      GALNT3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACTGAATA
    GALNT3 Expression
    About this image


    GALNT3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             lung ; pneumocytes   
             trachea   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             mouse/organ system/cardiovascular system   

    See GALNT3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GALNT3

    SOURCE GeneReport for Unigene cluster: Hs.170986

    UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
    Tissue specificity: Expressed in organs that contain secretory epithelial glands. Highly expressed in pancreas,
    skin, kidney and testis. Weakly expressed in prostate, ovary, intestine and colon. Also expressed in placenta and
    lung and fetal lung and fetal kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including GALNT3: 
              Glycosylation in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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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 GALNT3 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galnt31 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 87.1(n)1
    91.94(a)1
      2 (38.99 cM)5
    144251  NM_015736.21  NP_056551.21 
     660827665 
    chicken
    (Gallus gallus)
    Aves GALNT31 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 77.57(n)
    79.84(a)
      424177  XM_422023.3  XP_422023.2 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT36
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL344080.1(43333-74699)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480118622   -- 75.57(n)    48011862 
    zebrafish
    (Danio rerio)
    Actinopterygii GALNT36
    Uncharacterized protein
    72(a)
    1 ↔ 1
    9(50837292-50853337)


    ENSEMBL Gene Tree for GALNT3 (if available)
    TreeFam Gene Tree for GALNT3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GALNT3 gene
    GALNT62  POC1B-GALNT42  GALNT122  GALNT52  GALNT72  GALNT12  GALNTL62  GALNT142  
    GALNTL52  GALNT22  GALNT102  GALNT42  GALNT132  GALNT162  GALNT112  
    18/25 SIMAP similar genes for GALNT3 using alignment to 9 protein entries:     GALT3_HUMAN (see all proteins) (see all similar genes):
    GALNT6    POC1B-GALNT4    GALNTL5    GALNT4    GALNT1    GALNT15
    GALNTL6    GALNT11    GalNAc-T10    WBSCR17    GALNT2    GalNAc-T16
    GALNT19    GALNT7    GALNT12    GALNT13    GALNT14    GALNT9

    GALNT3 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

    10/956 SNPs in GALNT3 are shown (see all 956)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378530861,2
    Cpathogenic1166023727(-) TGCACC/TGAGAT 2 R * stg11Minor allele frequency- T:0.00NA 4550
    rs710312031,2
    C--158511037(+) TCTCA-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs1401574191,2
    --166000995(+) ACTTCA/GGGAAC 1 -- ds50010--------
    rs1883698691,2
    --166001023(+) AAATAC/TAAAAT 1 -- ds50010--------
    rs2005093701,2
    C--166001038(+) AAAAAA/CAAAAA 1 -- ds50010--------
    rs664977521,2
    C--166001039(+) AAAAC-/AAAAAA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1932949761,2
    --166001161(+) CAGGAA/GTTTTG 1 -- ds50010--------
    rs124772031,2
    H--166001191(+) CCATAA/GGAAAT 1 -- ds5001 ese34Minor allele frequency- G:0.00NS EA 418
    rs1849576361,2
    C--166001222(+) ATAGGC/TGCTTA 1 -- ds50010--------
    rs1446473291,2
    C--166001357(+) TAGAT-/AAAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GALNT3 (166604101 - 166651192 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GALNT3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2657879CNV Deletion23128226


    Human Gene Mutation Database (HGMD): GALNT3
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601756   
    OMIM disorders: 211900  
    UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
  • Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]: A severe metabolic disorder that
    manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients
    manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of
    periosteal reaction and cortical hyperostosis and absence of skin involvement. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/24 diseases for GALNT3 (see all 24):    About MalaCards
    hyperostosis-hyperphosphatemia syndrome    hyperphosphatemic familial tumoral calcinosis, galnt3-related    hyperostosis    hyperphosphatemia
    testicular microlithiasis    normophosphatemic familial tumoral calcinosis    tumoral calcinosis, hyperphosphatemic    calcinosis
    familial tumoral calcinosis    hyperphosphatemic familial tumoral calcinosis    bile duct carcinoma    hereditary hypophosphatemic rickets
    periostitis    rickets    colon adenocarcinoma    lung adenocarcinoma
    metabolic disorders    adenocarcinoma    diabetes mellitus    pancreatic cancer

    4 diseases from the University of Copenhagen DISEASES database for GALNT3:
    Calcinosis     Hyperphosphatemia     Hyperostosis     X-linked hypophosphatemia

    GALNT3 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for GALNT3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcinosis, tumoral 97.8 24 15687324 (3), 20358599 (2), 18982401 (2), 19830424 (2) (see all 16)
    hyperphosphatemia 91.1 7 16733465 (1), 20358599 (1), 17311862 (1), 18322299 (1) (see all 6)
    hyperostosis 80.2 1 18322299 (1)
    calcification 76 5 17311862 (1), 16567474 (1), 16940445 (1), 17710231 (1)

    Genetic Association Database (GAD): GALNT3

    Export disorders for GALNT3 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 GALNT3 gene, integrated from 9 sources (see all 57):
    (articles sorted by number of sources associating them with GALNT3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (PubMed id 15133511)1, 2, 3, 9 Topaz O....Sprecher E. (2004)
    2. Prognostic significance of UDP-N-acetyl-alpha-D- galactosamine:polypeptide N-acetylgalactosaminyltransferase-3 (GalNAc- T3) expression in patients with gastric carcinoma. (PubMed id 12708471)1, 2, 9 Onitsuka K.... Itoh H. (2003)
    3. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. (PubMed id 16638743)1, 2 Kato K.... Clausen H. (2006)
    4. 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)
    5. Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family. (PubMed id 9592121)1, 3 Bennett E.P....Clausen H. (1998)
    6. Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus. (PubMed id 9394011)1, 2 Roettger S.... Nilsson T. (1998)
    7. Substrate specificities of three members of the human UDP-N-acetyl- alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3. (PubMed id 9295285)1, 2 Wandall H.H.... Clausen H. (1997)
    8. cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D- galactosamine polypeptide N-acetylgalactosaminyltransferase, GalNAc- T3. (PubMed id 8663203)1, 2 Bennett E.P.... Clausen H. (1996)
    9. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. (PubMed id 16940445)1, 9 Ichikawa S....Econs M.J. (2006)
    10. Two novel GALNT3 mutations in familial tumoral calcinosis. (PubMed id 17853462)1, 9 Garringer H.J....White K.E. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 2591 HGNC: 4125 AceView: GALNT3 Ensembl:ENSG00000115339 euGenes: HUgn2591
    ECgene: GALNT3 Kegg: 2591 H-InvDB: GALNT3

    (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 GALNT3 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_485

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GALNT3 gene:
    Search GeneIP for patents involving GALNT3

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



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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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