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

GALNT14 Gene

protein-coding   GIFtS: 60
GCID: GC02M031044

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase...

 Explore 2 diseases affiliated with
GALNT14 via our new
 Human Malady Compendium 
Biological research products
for GALNT14
    

(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 14 (GalNAc-T14)1 2
     FLJ126911
GalNac-T101 2     GALNT152
GalNac-T141 2     Polypeptide N-Acetylgalactosaminyltransferase 142
Polypeptide GalNAc Transferase 142 3     Polypeptide N-Acetylgalactosaminyltransferase 152
Protein-UDP Acetylgalactosaminyltransferase 142 3     UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase T102
Pp-GaNTase 142 3     UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase T142
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 142 3     GalNAc-T143
EC 2.4.1.413 8     

External Ids:    HGNC: 229461   Entrez Gene: 796232   Ensembl: ENSG000001580897   OMIM: 6082255   UniProtKB: Q96FL93   

Export aliases for GALNT14 gene to outside databases

Previous GC identifers: GC02M031107 GC02M030871


(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 GALNT14:
This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts)
protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on
serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins
like mucins. Multiple transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Dec 2011)

UniProtKB/Swiss-Prot: GLT14_HUMAN, Q96FL9
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. Displays activity toward
mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in
kidney

Gene Wiki entry for GALNT14


(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_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GALNT14 gene promoter:
         NRSF form 1   CUTL1   Nkx2-5   NRSF form 2   GATA-1   AREB6   Chx10   FOXO1a   ZID   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALNT14 promoter sequence
   Search SABiosciences Chromatin IP Primers for GALNT14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALNT14


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

Entrez Gene cytogenetic band: 2p23.1   Ensembl cytogenetic band:  2p23.1   HGNC cytogenetic band: 2p23.2

GALNT14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT14 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M031044:  view genomic region     (about GC identifiers)

Start:
31,133,333 bp from pter      End:
31,378,068 bp from pter
Size:
244,736 bases      Orientation:
minus strand

(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: GLT14_HUMAN, Q96FL9 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 14  
Size: 552 amino acids; 64321 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=BAB14795.1; Type=Miscellaneous discrepancy; Note=Chimeric at the C-terminus;
Secondary accessions: B3KV89 Q4ZG75 Q53SU1 Q53TJ0 Q8IVI4 Q9BRH1 Q9H827 Q9H9J8
Alternative splicing: 4 isoforms:  Q96FL9-1   Q96FL9-2   Q96FL9-3   Q96FL9-4   (Minor isoform)

Explore the universe of human proteins at neXtProt for GALNT14: NX_Q96FL9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96FL9

  • 4/9 DME Specific Peptides for GALNT14 (Q96FL9) (see all 9)
     VVCPVID  FLDSHCE  PCSRVGH  VGHVFRK 

    GALNT14 Protein expression data from MOPED and PaxDb:    About this image 
    GALNT14 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001240755.1  NP_001240756.1  NP_078848.2  

    ENSEMBL proteins: 
     ENSP00000288988   ENSP00000314500   ENSP00000385435   ENSP00000406399   ENSP00000399886  
     ENSP00000398723   ENSP00000348497   ENSP00000415514  
    Reactome Protein details: Q96FL9
    Human Recombinant Protein Products for GALNT14: 
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    Uscn Proteins for GALNT14

    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--

    GALNT14 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GALNT14


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

    GALNT14 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2
     IPR003859 Galactosyl_T_2_met

    Graphical View of Domain Structure for InterPro Entry Q96FL9

    ProtoNet protein and cluster: Q96FL9

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


    UniProtKB/Swiss-Prot: GLT14_HUMAN, Q96FL9
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLT14_HUMAN, Q96FL9
    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. Displays activity toward
    mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in
    kidney
    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): 3 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 ----
    GO:0030246carbohydrate binding ----
         
    GALNT14 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GALNT14:
     Decreased nuclei size in G2M  Synthetic lethal with Ras 

         1 MGI phenotypic allele for Galnt14 (no phenotypes)

    GALNT14 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Galnt14tm1Lex for GALNT14
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GALNT14 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT14


    (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 GALNT14
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification


    2         Kegg Pathways  (Kegg details for GALNT14):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GLT14_HUMAN, Q96FL9
    Pathway: Protein modification; protein glycosylation


    GALNT14 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GALNT14

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

    5/36 Interacting proteins for GALNT14 (Q96FL93 ENSP000002889884) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC7Q8TAX73, ENSP000003020214I2D: score=2 STRING: ENSP00000302021
    MUC13Q9H3R23, ENSP000003122354I2D: score=1 STRING: ENSP00000312235
    MUC2Q028173, ENSP000004151834I2D: score=2 STRING: ENSP00000415183
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT10ENSP000002971074STRING: ENSP00000297107
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    GALNT14 for ontologies           About GeneDecksing



    (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

    GALNT14 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GALNT14

    5 HMDB Compounds for GALNT14    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--
    3 PharmGKB related drug/compound annotations for GALNT14 gene    About this table
    Drug/compound PharmGKB Annotation
    cisplatinCA  
    fluorouracilCA  
    mitoxantroneCA  
    Search CenterWatch for drugs/clinical trials and news about GALNT14 / GLT14 

    (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, Sirion Biotech, 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 GALNT14 gene (3 alternative transcripts): 
    NM_001253826.1  NM_001253827.1  NM_024572.3  

    Unigene Cluster for GALNT14:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)
    Hs.468058  [show with all ESTs]
    Unigene Representative Sequence: NR_045602
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000349752(uc002rns.3 uc010ymr.2 uc002rnr.3 uc010ezo.2)
    ENST00000324589 ENST00000406653(uc002rnq.3) ENST00000475320 ENST00000486564
    ENST00000430167 ENST00000455477 ENST00000464038(uc010ezp.1) ENST00000481023
    ENST00000424136 ENST00000496397 ENST00000461193 ENST00000490212 ENST00000498206
    ENST00000485468 ENST00000356174 ENST00000420311

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    hsa-miR-4324 hsa-miR-125a-5p hsa-miR-670 hsa-miR-125b hsa-miR-3176 hsa-miR-3922-3p hsa-miR-4319
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    Additional cDNA sequence: 

    AB078144.1 AJ505966.1 AK022753.1 AK074394.1 AK091313.1 AK122747.1 AK225808.1 AK298735.1 
    AK309417.1 AY358758.1 BC006269.2 BC010659.1 NR_045602.1 Y09324.4 

    10 DOTS entries:

    DT.451780  DT.100817457  DT.100817449  DT.120936518  DT.95161152  DT.100817448  DT.413822  DT.100817456 
    DT.91754029  DT.120936547 

    24/124 AceView cDNA sequences (see all 124):

    AA805374 BC006269 AK022753 BG164940 AB078144 AA358668 AW662278 BC010659 
    BI061029 BF195889 AA358669 BU179584 AU149561 AK122747 AY358758 AW072938 
    CA414661 BQ433154 NM_024572 BU164615 BM931630 AI384003 BG163385 BU173040 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GALNT14 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a ·
    SP1:                                            -     -                                                                                   -                     
    SP2:              -     -     -                 -     -     -                                                                             -                     
    SP3:              -     -     -     -     -     -     -                                                                                   -                     
    SP4:                                                                                                                                                            
    SP5:                                -     -     -     -                                                                                                         

    ExUns: 21b · 21c
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for GALNT14

    (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

    GALNT14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTCAAGGC
    GALNT14 Expression
    About this image

    GALNT14 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    Neural TubeDiencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)

    See GALNT14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GALNT14

    SOURCE GeneReport for Unigene cluster: Hs.468058

    UniProtKB/Swiss-Prot: GLT14_HUMAN, Q96FL9
    Tissue specificity: Highly expressed in fetal and adult kidney. Widely expressed at low level. Weakly expressed in
    whole brain, cerebellum, thymus, lung, mammary gland, liver, stomach, small intestine, colon, pancreas, spleen,
    bladder, uterus, placenta, testis, ovary, skeletal muscle, leukocyte, B-cell, bone marrow, fetal brain, fetal thymus,
    fetal lung, fetal liver, fetal small intestine, fetal spleen, fetal skeletal and fetus

        SABiosciences Expression via Pathway-Focused PCR Array including GALNT14: 
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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 animals.

    Orthologs for GALNT14 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves GALNT141 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 72.89(n)
    72.46(a)
      421305  XM_419370.3  XP_419370.3 
    lizard
    (Anolis carolinensis)
    Reptilia GALNT146
    --
    69(a)
    1 ↔ 1
    1(250181031-250234306)
    zebrafish
    (Danio rerio)
    Actinopterygii galnt141 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 63.75(n)
    62.84(a)
      562739  NM_001044995.2  NP_001038460.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG100006
    --
    29(a)
    possible ortholog
    3R(24574105-24577313)
    worm
    (Caenorhabditis elegans)
    Secernentea gly-46
    Polypeptide N-acetylgalactosaminyltransferase 4
    39(a)
    1 → many
    V(19881341-19895319)


    ENSEMBL Gene Tree for GALNT14 (if available)
    TreeFam Gene Tree for GALNT14 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GALNT14 gene
    GALNT62  POC1B-GALNT42  GALNT122  GALNT52  GALNT72  GALNT12  GALNTL62  GALNTL52  
    GALNT32  GALNT22  GALNT102  GALNT42  GALNT132  GALNT162  GALNT112  
    18/24 SIMAP similar genes for GALNT14 using alignment to 5 protein entries:     GLT14_HUMAN (see all proteins) (see all similar genes):
    GALNT15    GalNAc-T16    GALNT16    GALNTL1    GALNT2    GALNT1
    GALNT13    GALNTL5    GALNT11    GALNTL6    GALNT12    GalNAc-T10
    GALNT3    GALNT4    POC1B-GALNT4    GALNT7    GALNT9    GALNT6

    GALNT14 for paralogs           About GeneDecksing



    (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

    10/4606 NCBI SNPs in GALNT14 are shown (see all 4606    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1895213561,2
    --31133011(+) GCATGG/TCACAT 4 -- ds50010--------
    rs134057111,2
    C,F--31133024(+) ATACAT/CATGTA 4 -- ds50015Minor allele frequency- C:0.44NA WA CSA 9
    rs1437993521,2
    --31133060(+) ACCCTA/GAAACT 4 -- ds50010--------
    rs2018120271,2
    --31133078(+) AATAA-/TTAAAA 4 -- ds50010--------
    rs1828320631,2
    --31133337(+) GTCCAA/GAGACA 4 -- ut31 nc-transcript-variant0--------
    rs1164783571,2
    C,F--31133392(+) TTCATC/TTCTCA 4 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.02NA 120
    rs1468773891,2
    --31133398(+) TCTCAA/GTGTAG 4 -- nc-transcript-variantut310--------
    rs1861068021,2
    C--31133727(+) AGGGAA/CGCACC 4 -- ut31 nc-transcript-variant0--------
    rs22780801,2
    C,H--31133762(-) AGGACC/ACCTGC 4 -- ut31 nc-transcript-variantese35Minor allele frequency- A:0.00NS EA NA 414
    rs2015897081,2
    --31133838(+) CTTGCC/TGTTCT 7 S G mis10--------

    HapMap Linkage Disequilibrium report for GALNT14 (31133333 - 31378068 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for GALNT14
         1 CNV: 73151
         4 Indels: 40318 40317 26658 42136

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

    GALNT14 for disorders           About GeneDecksing

    OMIM gene information: 608225    OMIM disorders: --

    2 diseases for GALNT14:    About MalaCards
    lung cancer    breast cancer

    Human Genome Epidemiology (HuGE) Navigator: GALNT14 (2 documents)

    Export disorders for GALNT14 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 GALNT14 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with GALNT14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel UDP-GalNAc:polypeptide N- acetylgalactosaminyltransferase, pp-GalNAc-T14. (PubMed id 12507512)1, 2, 3 Wang H.... Narimatsu H. (2003)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. N-Acetylgalactosaminyltransferase 14, a novel insulin-like growth factor binding protein-3 binding partner. (PubMed id 17434446)1, 9 Wu C....Xu D. (2007)
    6. N-Acetylgalactosaminyltransferase-14 as a potential b iomarker for breast cancer by immunohistochemistry. (PubMed id 20356418)1, 9 Wu C....Zhu M. (2010)
    7. GalNAc-T14 may be involved in regulating the apoptoti c action of IGFBP-3. (PubMed id 19805900)1, 9 Wu C....Xu D. (2009)
    8. Colocalization and identification of interaction sites between IGFBP-3 and GalNAc-T14. (PubMed id 22441125)1 Wu C....Li Q.J. (2012)
    9. Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. (PubMed id 22174851)1 Lingappa J.R....Goldstein D. (2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 79623 HGNC: 22946 AceView: GALNT14 Ensembl:ENSG00000158089 euGenes: HUgn79623
    ECgene: GALNT14 Kegg: 79623 H-InvDB: GALNT14

    (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 GALNT14 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_497

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GALNT14 gene:
    Search GeneIP for patents involving GALNT14

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



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