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

GALNT3 Gene

protein-coding   GIFtS: 63
GCID: GC02M166567

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase...
 Explore 25 diseases affiliated with
GALNT3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GALNT3    

Aliases
for GALNT3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 3 (GalNAc-T3)1 2
     Pp-GaNTase 32 3
GalNAc-T31 2 3     UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 32 3
HFTC1 2 5     EC 2.4.1.413 8
HHS1 2 5     GalNAc Transferase 32
Polypeptide GalNAc Transferase 32 3     Polypeptide GalNAc-Transferase T32
Protein-UDP 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


Summaries
for GALNT3 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
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

Proteins
for GALNT3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004473.2  
    ENSEMBL proteins: 
     ENSP00000376465   ENSP00000386955   ENSP00000412643   ENSP00000391104   ENSP00000397112  
     ENSP00000413477   ENSP00000413694   ENSP00000399880  
    Reactome Protein details: Q14435
    Human Recombinant Protein Products: 
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    Novus Biologicals GALNT3 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GALNT3

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005624membrane fraction ----
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794colocalizes with Golgi apparatus IDA12506059


    GALNT3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GALNT3

    Protein Domains /
    Families
    for GALNT3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GALNT3 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 families:
    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


    Function
    for GALNT3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    hsa-miR-30c hsa-miR-520e hsa-miR-302d hsa-miR-3607-3p hsa-miR-4328 hsa-miR-139-5p hsa-miR-302e hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmid: GALNT3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 5 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
    GO:0030246carbohydrate binding ----


    GALNT3 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for GALNT3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Addition of GalNAc to the Tn antigen via an alpha-1,6 linkage forms a Core 7 glycoprotein
    		O-linked glycosylation of mucins0.28
    		Mucin type O-Glycan biosynthesis0.00
    2Asparagine N-linked glycosylation
    		Post-translational protein modification0.44
    		Metabolism of proteins0.15
    3Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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 IDA9295285
    GO:0043687post-translational protein modification TAS--


    GALNT3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GALNT3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for GALNT3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate GALNT3 (see all 25):
    hsa-miR-30c hsa-miR-520e hsa-miR-302d hsa-miR-3607-3p hsa-miR-4328 hsa-miR-139-5p hsa-miR-302e hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmid: GALNT3 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 AA262123 BM851511 AA827219 BE645926 CB850640 BM978908 AI659514 
    AW469254 CB217140 AI679315 CA395873 BX647473 CB123980 AI679332 AA639964 
    AI888881 AA337550 AL702637 BG778037 AI886102 AA279141 AI332871 BQ429970 

    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

    Expression
    for GALNT3 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAACTGAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GALNT3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
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    Orthologs
    for GALNT3 gene

    (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 GALNT3 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 77(a)
    		 1 ↔ 1
    		 GL344080.1(48928-63997)
    African clawed frog
    (Xenopus laevis)    		 Amphibia 480118622   -- 75.57(n)    48011862 
    zebrafish
    (Danio rerio)    		 Actinopterygii CABZ01075129.16
    CABZ01081673.16
    		 --
    		 72(a)
    66(a)
    		 1 ↔ many
    1 ↔ many
    		 9(50837292-50853337)
    9(50872483-50882362)
    fruit fly
    (Drosophila melanogaster)    		 Insecta GalNAc-T13 polypeptide
    N-acetylgalactosaminyltransferase    		 39(a)
    (best of 3)    		   52A6   --
    worm
    (Caenorhabditis elegans)    		 Secernentea Y39E4B.12a3   -- 45(a)
    (best of 4)    		   III(13259420-13275737)   --


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

    Paralogs
    for GALNT3 gene

    (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



    Genomic Variants
    for GALNT3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/782 NCBI SNPs in GALNT3 are shown (see all 782)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378530861,2
    		C,pathogenic158508668(-) TGCACC/TGAGAT 2 R * stg11Minor allele frequency- T:0.00NA 4550
    rs2005093701,2
    		C--158485956(+) AAAAAA/CAAAAA 1 -- ds50010--------
    rs124772031,2
    		H--158486109(+) CCATAA/GGAAAT 1 -- ds5001 ese34Minor allele frequency- G:0.00NS EA 418
    rs750350431,2
    		F,--158487601(+) TATATC/TCATAA 1 -- int11Minor allele frequency- T:0.02WA 118
    rs748926771,2
    		F,--158487864(+) ATGACT/CGTTGC 1 -- int11Minor allele frequency- C:0.02WA 118
    rs761069621,2
    		F,--158487933(+) ACAGAA/CGTGCT 1 -- int11Minor allele frequency- C:0.03WA 118
    rs168510031,2
    		C,--158488934(+) TTCCTC/TTCAGA 1 -- int14Minor allele frequency- T:0.02NA EA 262
    rs1154625981,2
    		C,--158488973(+) GTGTAC/ATCACT 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1133181411,2
    		C,--158489444(+) GTACAT/CCAGAG 1 -- int12Minor allele frequency- C:0.03CSA WA 120
    rs784007411,2
    		F,--158489574(+) ATTGAC/AATTAT 1 -- int11Minor allele frequency- A:0.08WA 118

    HapMap Linkage Disequilibrium report for GALNT3 (166604101 - 166651192 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GALNT3
         1 CNV: 90114
    Human Gene Mutation Database (HGMD): GALNT3

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    Disorders / Diseases
    for GALNT3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GALNT3 for disorders           About GeneDecksing

    OMIM gene information: 601756   
    OMIM disorders: 211900  
    UniProtKB/Swiss-Prot: GALT3_HUMAN, Q14435
  • Defects in GALNT3 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]. HFTC is a
    • severe autosomal recessive 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

    20/25 diseases for GALNT3 (see all 25):    About MalaCards
    tumoral calcinosis, hyperphosphatemic    hyperphosphatemic familial tumoral calcinosis    normophosphatemic familial tumoral calcinosis    hyperostosis-hyperphosphatemia syndrome
    familial tumoral calcinosis    calcinosis    hereditary hypophosphatemic rickets    testicular microlithiasis
    hyperostosis    hyperphosphatemia    bile duct carcinoma    periostitis
    metabolic disorders    rickets    squamous cell carcinoma    diabetes mellitus
    colon adenocarcinoma    lung adenocarcinoma    adenocarcinoma    pancreatic cancer

    3 diseases from the University of Copenhagen DISEASES database for GALNT3:
    Calcinosis     Hyperphosphatemia     Hyperostosis

    4 Novoseek 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

    Publications
    for GALNT3 gene

    (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 56):
    (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)

    External Searches for GALNT3 gene

    (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)

    Genome Databases showing GALNT3 gene

    (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

    Other Databases showing GALNT3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GALNT3 gene

    (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

    Intellectual Property
    for GALNT3 gene

    (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:
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