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GALNT12 Gene

protein-coding   GIFtS: 61
GCID: GC09P101569

Polypeptide N-Acetylgalactosaminyltransferase 12

(Previous name: 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)
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Aliases
Polypeptide N-Acetylgalactosaminyltransferase 121 2     Pp-GaNTase 122 3
Polypeptide GalNAc Transferase 121 2 3     UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 122 3
UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide
N-Acetylgalactosaminyltransferase 12 (GalNAc-T12)1 2
     EC 2.4.1.413 8
Protein-UDP Acetylgalactosaminyltransferase 122 3     CRCS12 5
GalNAc-T122 3     Colorectal Cancer, Susceptibility To 12

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GALNT12 Gene:
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)

GeneCards Summary for GALNT12 Gene:
GALNT12 (polypeptide N-acetylgalactosaminyltransferase 12) is a protein-coding gene. Diseases associated with GALNT12 include colorectal cancer 1, and colorectal cancer. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT1.

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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 plasmidGALNT12 promoter sequence
   Search Chromatin IP Primers for GALNT12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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

Explore proteomics data for GALNT12 at MOPED

Selected DME Specific Peptides for GALNT12 (Q8IXK2) (see all 8)
 VVCPVID  MAGGLFA  PTMAGGL  WGGENLE 


See GALNT12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_078918.3  
ENSEMBL proteins: 
 ENSP00000364150  
Reactome Protein details: Q8IXK2

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Cloud-Clone Corp. CLIAs for GALNT12


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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 Q8IXK2

ProtoNet protein and cluster: Q8IXK2

2 Blocks protein domains:
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


GALNT12 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004653polypeptide N-acetylgalactosaminyltransferase activity IEA--
GO:0046872metal ion binding IEA--
     
GALNT12 for ontologies           About GeneDecksing


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

     1 MGI phenotypic allele for Galnt12 (no phenotypes)

GALNT12 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GALNT12
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miRNA
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miRTarBase miRNAs that target GALNT12:
hsa-mir-192-5p (MIRT026189), hsa-mir-335-5p (MIRT016888), hsa-mir-215-5p (MIRT024339)

Block miRNA regulation of human, mouse, rat GALNT12 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate GALNT12 (see all 9):
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 plasmidGALNT12 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat GALNT12

Gene Editing
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALNT12

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT12


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
GLT12_HUMAN, Q8IXK2: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
golgi apparatus5
endoplasmic reticulum1
extracellular1
lysosome1
plasma membrane1

Gene Ontology (GO): 2 cellular component terms:    About this table

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

GALNT12 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for GALNT12 About    
See pathways by source

SuperPathContained pathways About
1O-linked glycosylation of mucins
O-linked glycosylation of mucins0.47
Mucin type O-Glycan biosynthesis0.47
2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Post-translational protein modification0.43
Metabolism of proteins0.30
3Metabolism
Metabolic pathways0.38

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Reactome Pathway for GALNT12
    O-linked glycosylation of mucins


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

    Pathway & Disease-focused RT2 Profiler PCR Array including GALNT12: 

          Glycosylation in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for GALNT12

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

Selected 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
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Gene Ontology (GO): 3 biological process terms:    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



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for GALNT12 (GLT12)

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--



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate GALNT12 (see all 9):
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 plasmidGALNT12 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat GALNT12
Clone
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: GALNT12 (NM_024642)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALNT12
Primer
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OriGene qPCR primer pairs and template standards for GALNT12
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALNT12
  QuantiTect SYBR Green Assays in human, mouse, rat GALNT12
  QuantiFast Probe-based Assays in human, mouse, rat GALNT12

Additional mRNA 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 

Selected AceView cDNA sequences (see all 90):

AI690020 AI357770 AK024865 AA554045 BU680603 BM672583 AI916034 AI222410 
N50776 BP342287 NM_024642 AI636959 CB243715 BF222363 BM978800 AI633475 
AI252790 AA983811 CB242748 AA830866 AI185726 BM970195 AI268570 AB078146 

GeneLoc Exon Structure

Selected 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

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GALNT12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTATATCAT
GALNT12 Expression
About this image


GALNT12 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
         Hindgut
 
 Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
         Human embryonic stem cells (family)
 
 Neural Tube (Nervous System)    fully expand to see all 2 entries
         Diencephalic Roof Plate
 
 Colon (Gastrointestinal Tract)
GALNT12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GALNT12 Protein Expression

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

    Pathway & Disease-focused RT2 Profiler PCR Array including GALNT12: 
          Glycosylation in human mouse rat

Primer
Products:
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OriGene qSTAR qPCR primer pairs in human, mouse for GALNT12
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALNT12
QuantiTect SYBR Green Assays in human, mouse, rat GALNT12
QuantiFast Probe-based Assays in human, mouse, rat GALNT12
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNT12

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for GALNT12 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Galnt121 , 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more1, 5 84.4(n)1
87.04(a)1
  4 (25.96 cM)5
2301451  NM_172693.31  NP_766281.11 
 470919095 
chicken
(Gallus gallus)
Aves GALNT121 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 75.45(n)
79.65(a)
  420978  XM_419065.4  XP_419065.4 
lizard
(Anolis carolinensis)
Reptilia GALNT126
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-a...
70(a)
1 ↔ 1
4(66887570-66934586)
tropical clawed frog
(Xenopus tropicalis)
Amphibia galnt121 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 68.86(n)
74.22(a)
  100485011  XM_002935135.2  XP_002935181.2 
zebrafish
(Danio rerio)
Actinopterygii galnt121 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase more 68.48(n)
73.26(a)
  559736  XM_683102.2  XP_688194.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for GALNT12 gene
GALNT12  GALNTL62  GALNT32  GALNT22  GALNT102  GALNT132  GALNT62  POC1B-GALNT42  
GALNT152  GALNT72  GALNT52  GALNT142  GALNTL52  GALNT42  GALNT162  GALNT112  
Selected 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    GalNAc-T16
GALNT13    GALNT19    GALNTL2    GALNTL6    WBSCR17    GALNT11

GALNT12 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for GALNT12 (see all 960)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1452369231,2,,4
C,FColorectal cancer 1 (CRCS1)4 --101608250(+) CCGTCG/AATGTC 2 /N /D mis12Minor allele frequency- A:0.00NA EU 5825
VAR_0643574
Colorectal cancer 1 (CRCS1)4--see VAR_0643572 R W mis40--------
VAR_0643614
Colorectal cancer 1 (CRCS1)4--see VAR_0643612 R H mis40--------
VAR_0643624
Colorectal cancer 1 (CRCS1)4--see VAR_0643622 C F mis40--------
VAR_0643594
Colorectal cancer 1 (CRCS1)4--see VAR_0643592 E D mis40--------
VAR_0643634
Colorectal cancer 1 (CRCS1)4--see VAR_0643632 T M mis40--------
VAR_0643604
Colorectal cancer 1 (CRCS1)4--see VAR_0643602 R H mis40--------
VAR_0685094
Colorectal cancer 1 (CRCS1)4--see VAR_0685092 Y C mis40--------
rs109877681,2,,4
--71168973(+) gggccA/Ggggct 2 R G mis1 ese30--------
rs2013629831,2
C--71174638(+) TAAAA-/GAATTT 1 -- int10--------

HapMap Linkage Disequilibrium report for GALNT12 (101569981 - 101612363 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for GALNT12:    About this table    
Variant IDTypeSubtypePubMed ID
nsv825009CNV Loss20364138
nsv825010CNV Gain20364138
dgv8264n71CNV Gain21882294
nsv893617CNV Gain21882294

Human Gene Mutation Database (HGMD): GALNT12
Locus Specific Mutation Databases (LSDB): GALNT12

Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 610290   
OMIM disorders: 608812  
UniProtKB/Swiss-Prot: GLT12_HUMAN, Q8IXK2
  • Colorectal cancer 1 (CRCS1) [MIM:608812]: A complex disease characterized by malignant lesions arising
    from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated
    with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the
    colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • 7 diseases for GALNT12:    
    About MalaCards
    colorectal cancer 1    colorectal cancer    cerebritis    thyroiditis
    multiple myeloma    myeloma    prostatitis


    GALNT12 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GALNT12
    Human Genome Epidemiology (HuGE) Navigator: GALNT12 (2 documents)

    Export disorders for GALNT12 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)
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    PubMed articles for GALNT12 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with GALNT12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Inactivating germ-line and somatic mutations in polypeptide N- acetylgalactosaminyltransferase 12 in human colon cancers. (PubMed id 19617566)1, 2, 4, 9 Guda K.... Markowitz S.D. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    2. 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. (FEBS Lett. 2002)
    3. Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. (PubMed id 22461326)1, 2 Clarke E.... Woods M.O. (Hum. Mutat. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 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. (Oncology 2004)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    10. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
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    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)
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    Entrez Gene: 79695 HGNC: 19877 AceView: GALNT12 Ensembl:ENSG00000119514 euGenes: HUgn79695
    ECgene: GALNT12 Kegg: 79695 H-InvDB: GALNT12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GALNT12 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GALNT12
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_495

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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