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

GALNT12 Gene

protein-coding   GIFtS: 57
GCID: GC09P101569

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase...
 Explore 5 diseases affiliated with
GALNT12 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GALNT12    

Aliases
for GALNT12 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 12 (GalNAc-T12)1 2
     EC 2.4.1.413 8
Polypeptide GalNAc Transferase 122 3     CRCS12 5
Protein-UDP Acetylgalactosaminyltransferase 122 3     FLJ212121
GalNAc-T122 3     Colorectal Cancer, Susceptibility To 12
Pp-GaNTase 122 3     Polypeptide N-Acetylgalactosaminyltransferase 122
UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 122 3     

External Ids:    HGNC: 198771   Entrez Gene: 796952   Ensembl: ENSG000001195147   OMIM: 6102905   UniProtKB: Q8IXK23   

Export aliases for GALNT12 gene to outside databases

Previous GC identifers: GC09P092385 GC09P093313 GC09P095027 GC09P096949 GC09P098649 GC09P100609 GC09P071168


Summaries
for GALNT12 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 GALNT12:
This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the
transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor
in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased
susceptibility to colorectal cancer.(provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: GLT12_HUMAN, Q8IXK2
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
non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays
enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated
Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis
in digestive organs




Genomic Views
for GALNT12 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_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GALNT12 gene promoter:
         ATF-2   MyoD   Lmo2   AP-2gamma   CRE-BP1   AP-2beta   ZIC2/Zic2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GALNT12 promoter sequence
   Search SABiosciences Chromatin IP Primers for GALNT12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALNT12


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

Entrez Gene cytogenetic band: 9q22.33   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22.33

GALNT12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALNT12 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P101569:  view genomic region     (about GC identifiers)

Start:
 101,569,981 bp from pter      End:
 101,612,363 bp from pter
Size:
 42,383 bases      Orientation:
 plus strand

Proteins
for GALNT12 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: GLT12_HUMAN, Q8IXK2 (See protein sequence)
Recommended Name: Polypeptide N-acetylgalactosaminyltransferase 12  
Size: 581 amino acids; 66938 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=BAB15027.1; Type=Erroneous initiation;
Secondary accessions: Q5TCF7 Q8NG54 Q96CT9 Q9H771
Alternative splicing: 2 isoforms:  Q8IXK2-1   Q8IXK2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GALNT12: NX_Q8IXK2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IXK2

    • 4/8 DME Specific Peptides for GALNT12 (Q8IXK2) (see all 8)
     VVCPVID  MAGGLFA  PTMAGGL  WGGENLE 

    GALNT12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_078918.3  
    ENSEMBL proteins: 
     ENSP00000364150  
    Reactome Protein details: Q8IXK2
    Human Recombinant Protein Products: 
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    Uscn Proteins for GALNT12

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    GALNT12 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for GALNT12 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GALNT12 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000772 Ricin_B_lectin
     IPR001173 Glyco_trans_2

    Graphical View of Domain Structure for InterPro Entry Q8IXK2

    ProtoNet protein and cluster: Q8IXK2

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


    UniProtKB/Swiss-Prot: GLT12_HUMAN, Q8IXK2
    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 GALNT12 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: GLT12_HUMAN, Q8IXK2
    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
    non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays
    enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated
    Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis
    in digestive organs
    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

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    hsa-miR-130a* hsa-miR-202 hsa-miR-23c hsa-miR-124 hsa-miR-629* hsa-miR-23b hsa-miR-129-5p hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmid: GALNT12 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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:0030246carbohydrate binding ----


    GALNT12 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for GALNT12:
     Increased 8N DNA content 

    Animal Models:
         1 MGI phenotypic allele for Galnt12 (no phenotypes)

    GALNT12 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GALNT12 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 GALNT12
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification


    2         Kegg Pathways  (Kegg details for GALNT12):
        Mucin type O-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: GLT12_HUMAN, Q8IXK2
    Pathway: Protein modification; protein glycosylation


    GALNT12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GALNT12

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

    5/36 Interacting proteins for GALNT12 (Q8IXK23 ENSP000003641504) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC7Q8TAX73, ENSP000003020214I2D: score=1 STRING: ENSP00000302021
    MUC1P159413, ENSP000003389834I2D: score=1 STRING: ENSP00000338983
    MUC2Q028173, ENSP000004151834I2D: score=1 STRING: ENSP00000415183
    C1GALT1C1ENSP000003043644STRING: ENSP00000304364
    GALNT1ENSP000002691954STRING: ENSP00000269195
    About this table

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

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


    GALNT12 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GALNT12 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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GALNT12

    5 HMDB Compounds for GALNT12    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 GALNT12 / GLT12 

    Transcripts
    for GALNT12 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 GALNT12 gene: 
    NM_024642.4  

    Unigene Cluster for GALNT12:

    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)
    Hs.47099  [show with all ESTs]
    Unigene Representative Sequence: NM_024642
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375011(uc004ayz.3) ENST00000470473

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    hsa-miR-130a* hsa-miR-202 hsa-miR-23c hsa-miR-124 hsa-miR-629* hsa-miR-23b hsa-miR-129-5p hsa-miR-23a
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB040673.1 AB078146.1 AJ132365.2 AJ505963.1 AK024865.1 BC013945.1 

    5 DOTS entries:

    DT.410726  DT.92017813  DT.121202140  DT.91683492  DT.95361670 

    24/90 AceView cDNA sequences (see all 90):

    BP342287 AI252790 AI185726 AJ132365 CB243715 AA830866 AI222410 BU680603 
    BM970195 AI690020 AB078146 N50776 BE218607 BM978800 AI916034 AK024865 
    AI636959 AI268570 AA554045 BM672583 CB242748 AI633475 NM_024642 AA983811 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GALNT12 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for GALNT12

    Expression
    for GALNT12 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

    GALNT12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTATATCAT

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

    GALNT12 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeDiencephalic Roof PlateNeural Tube
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

    See GALNT12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GALNT12

    SOURCE GeneReport for Unigene cluster: Hs.47099

    UniProtKB/Swiss-Prot: GLT12_HUMAN, Q8IXK2
    Tissue specificity: Widely expressed at different levels of expression. Highly expressed in digestive organs such as
    small intestine, stomach, pancreas and colon. Expressed at intermediate level in testis, thyroid gland and spleen.
    Weakly expressed in whole brain, cerebral cortex, cerebellum, fetal brain, bone marrow, thymus, leukocytes, heart,
    skeletal muscle, liver, lung, esophagus, kidney, adrenal gland, mammary gland, uterus, placenta, ovary and prostate

        SABiosciences Expression via Pathway-Focused PCR Array including GALNT12: 
              Glycosylation in human mouse rat

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    In Situ
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    Orthologs
    for GALNT12 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 GALNT12 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves GALNT121 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 75.11(n)
    79.4(a)    		   420978  XM_419065.3  XP_419065.3 
    lizard
    (Anolis carolinensis)    		 Reptilia GALNT126
    		 --
    		 67(a)
    		 1 ↔ 1
    		 4(66887722-66934043)
    zebrafish
    (Danio rerio)    		 Actinopterygii galnt121 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 68.27(n)
    73.03(a)    		   559736  XM_683102.1  XP_688194.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG304636
    		 --
    		 34(a)
    		 1 → many
    		 2R(12560966-12618889)
    worm
    (Caenorhabditis elegans)    		 Secernentea gly-56
    		 Polypeptide N-acetylgalactosaminyltransferase 5
    		 37(a)
    		 1 → many
    		 III(13187291-13204793)


    ENSEMBL Gene Tree for GALNT12 (if available)
    TreeFam Gene Tree for GALNT12 (if available) 

    Paralogs
    for GALNT12 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GALNT12 gene
    GALNT62  POC1B-GALNT42  GALNT52  GALNT72  GALNT12  GALNTL62  GALNT142  GALNTL52  
    GALNT32  GALNT22  GALNT102  GALNT42  GALNT132  GALNT162  GALNT112  
    18/24 SIMAP similar genes for GALNT12 using alignment to 3 protein entries:     GLT12_HUMAN (see all proteins) (see all similar genes):
    GalNAc-T10    GALNT4    POC1B-GALNT4    GALNTL5    GALNT14    GALNT6
    GALNT10    GALNT3    GALNT15    GALNT1    GALNT16    GALNTL1
    GALNTL2    GalNAc-T16    GALNT13    GALNT19    GALNTL6    WBSCR17

    GALNT12 for paralogs           About GeneDecksing



    Genomic Variants
    for GALNT12 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

    10/787 NCBI SNPs in GALNT12 are shown (see all 787)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs746361601,2
    		C,F,--71166938(+) CAGCAG/CTTTAC 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs773034061,2
    		C,F,--71166956(+) AGTGTG/ATGCTC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs117952011,2
    		C,F,H,--71167115(+) TGTCTG/CTTTTC 1 -- us2k1 tfbs31Minor allele frequency- C:0.02EA 120
    rs117909001,2
    		C,F,H,--71167584(+) TTTGGA/GCCAAC 1 -- us2k112Minor allele frequency- G:0.01NS EA NA 1678
    rs117913551,2
    		C,A,H,--71167849(+) CTTCTA/TCAAAA 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs109877681,2
    		--71168973(+) gggccA/Ggggct 2 R G mis1 ese30--------
    rs120007541,2
    		C,A,H--71169174(+) TCTCAC/TTGCAC 2 L syn1 ese32Minor allele frequency- T:0.01NS NA 182
    rs120050401,2
    		H--71169770(+) GGCGGA/GAAGGG 1 -- int10--------
    rs117930071,2
    		C,F,H,--71170420(+) TAGCCT/CCATGC 1 -- int11Minor allele frequency- C:0.02NA 120
    rs121154451,2
    		F,--71170854(+) ATGTAC/TTCAAG 1 -- int11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for GALNT12 (101569981 - 101612363 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GALNT12: --
    Human Gene Mutation Database (HGMD): GALNT12

    Locus Specific Mutation Databases (LSDB): GALNT12

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GALNT12
    DNA2.0 Custom Variant and Variant Library Synthesis for GALNT12

    Disorders / Diseases
    for GALNT12 gene

    (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
    GALNT12 for disorders           About GeneDecksing

    OMIM gene information: 610290   
    OMIM disorders: 608812  
    UniProtKB/Swiss-Prot: GLT12_HUMAN, Q8IXK2
  • Defects in GALNT12 are a cause of susceptibility to colorectal cancer type 1 (CRCS1) [MIM:608812]. Colorectal
    • cancer is a malignancy originating either in the colon or rectum or both

    5 diseases for GALNT12:    About MalaCards
    colorectal cancer    colon cancer    cerebritis    thyroiditis
    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: GALNT12 (2 documents)

    Export disorders for GALNT12 gene to outside databases

    Publications
    for GALNT12 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 GALNT12 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with GALNT12)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a novel member of the UDP- GalNAc:polypeptide N-acetylgalactosaminyltransferase family, pp- GalNAc-T12(1). (PubMed id 12135769)1, 2, 3 Guo J.-M.... Narimatsu H. (2002)
    2. Inactivating germ-line and somatic mutations in polyp eptide N-acetylgalactosaminyltransferase 12 in human colon cancers. (PubMed id 19617566)1, 2, 9 Guda K....Markowitz S.D. (2009)
    3. Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. (PubMed id 22461326)1, 2 Clarke E.... Woods M.O. (2012)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    7. Expression of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-12 in gastric and colonic cancer cell lines and in human colorectal cancer. (PubMed id 15557789)1, 9 Guo J.M....Narimatsu H. (2004)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    External Searches for GALNT12 gene

    (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)

    Genome Databases showing GALNT12 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79695 HGNC: 19877 AceView: GALNT12 Ensembl:ENSG00000119514 euGenes: HUgn79695
    ECgene: GALNT12 Kegg: 79695 H-InvDB: GALNT12

    Other Databases showing GALNT12 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GALNT12 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 GALNT12 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_495

    Intellectual Property
    for GALNT12 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for GALNT12 gene:
    Search GeneIP for patents involving GALNT12

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



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