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 ca... See more...

Aliases for GALNT12 Gene

Aliases for GALNT12 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 12 2 3 4 5
  • Polypeptide GalNAc Transferase 12 2 3 4
  • GalNAc-T12 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 12 (GalNAc-T12) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 12 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 12 3 4
  • Pp-GaNTase 12 3 4
  • EC 2.4.1.41 4 51
  • Colorectal Cancer, Susceptibility To 1 3
  • GALNT12 5
  • CRCS1 3

External Ids for GALNT12 Gene

Previous GeneCards Identifiers for GALNT12 Gene

  • GC09P092385
  • GC09P093313
  • GC09P095027
  • GC09P096949
  • GC09P098649
  • GC09P100609
  • GC09P101569
  • GC09P071168

Summaries for GALNT12 Gene

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. Among its related pathways are Mucin type O-glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is POC1B-GALNT4.

UniProtKB/Swiss-Prot Summary for GALNT12 Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALNT12 Gene

Genomics for GALNT12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GALNT12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J098805 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 602.7 +0.9 939 6.4 CREB1 ATF7 PRDM10 ZNF629 RFX1 IKZF1 CTCF POLR2A FOXA1 PRDM1 GALNT12 ENSG00000285706 ANKS6 lnc-GALNT12-1 ENSG00000267026 COL15A1
GH09J098848 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 10.9 +41.0 41017 1.2 GATAD2A CTCF PRDM10 LEF1 SOX13 IKZF1 JUND ZNF143 PHF21A RXRB GALNT12 COL15A1 lnc-GALNT12-1 ENSG00000267026
GH09J098916 Enhancer 1.1 Ensembl ENCODE dbSUPER 10 +109.5 109533 2.4 LEF1 IKZF1 ZNF24 HDAC1 MGA ZNF766 MTA3 CTBP1 ZSCAN29 NR2C2 COL15A1 GALNT12 lnc-COL15A1-1
GH09J099102 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 +297.8 297834 5.2 SP1 HNRNPL ATF7 PRDM10 IKZF1 POLR2A BACH1 LARP7 ZNF143 MTA2 TGFBR1 INVS GALNT12 HSALNG0073216 ALG2
GH09J098988 Enhancer 1 Ensembl ENCODE dbSUPER 10.2 +181.4 181368 3.7 ZNF629 CTCF ZIC2 SP1 JUND CEBPB NR3C1 OSR2 USF1 FOS COL15A1 GALNT12 ENSG00000270412 piR-35564-145 piR-56037-109 TGFBR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALNT12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALNT12

Top Transcription factor binding sites by QIAGEN in the GALNT12 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ATF-2
  • CRE-BP1
  • Lmo2
  • MyoD
  • ZIC2

Genomic Locations for GALNT12 Gene

Genomic Locations for GALNT12 Gene
chr9:98,807,670-98,850,081
(GRCh38/hg38)
Size:
42,412 bases
Orientation:
Plus strand
chr9:101,569,981-101,612,363
(GRCh37/hg19)
Size:
42,383 bases
Orientation:
Plus strand

Genomic View for GALNT12 Gene

Genes around GALNT12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT12 Gene

Proteins for GALNT12 Gene

  • Protein details for GALNT12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXK2-GLT12_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 12
    Protein Accession:
    Q8IXK2
    Secondary Accessions:
    • Q5TCF7
    • Q8NG54
    • Q96CT9
    • Q9H771

    Protein attributes for GALNT12 Gene

    Size:
    581 amino acids
    Molecular mass:
    66938 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15027.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GALNT12 Gene

    Alternative splice isoforms for GALNT12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT12 Gene

Selected DME Specific Peptides for GALNT12 Gene

Q8IXK2:
  • RAAEVWMD
  • MAGGLFA
  • VVCPVID
  • SFRIWQCGG
  • SDREHLK
  • PTMAGGL
  • WGGENLE
  • GWLEPLL

Post-translational modifications for GALNT12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GALNT12 Gene

Domains & Families for GALNT12 Gene

Gene Families for GALNT12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GALNT12 Gene

InterPro:
Blocks:
  • Ricin B lectin domain
  • Glycosyl transferase, family 2
ProtoNet:

Suggested Antigen Peptide Sequences for GALNT12 Gene

GenScript: Design optimal peptide antigens:
  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12 (GLT12_HUMAN)
  • Polypeptide N-acetylgalactosaminyltransferase 12 (Q68VJ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IXK2

UniProtKB/Swiss-Prot:

GLT12_HUMAN :
  • 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.
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
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.
  • The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
Family:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
genes like me logo Genes that share domains with GALNT12: view

Function for GALNT12 Gene

Molecular function for GALNT12 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:23956, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12788, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:53604, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; EC=2.4.1.41; Evidence={ECO:0000269|PubMed:12135769};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:52424, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11689, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:87075; EC=2.4.1.41; Evidence={ECO:0000269|PubMed:12135769};.

Enzyme Numbers (IUBMB) for GALNT12 Gene

Phenotypes From GWAS Catalog for GALNT12 Gene

Gene Ontology (GO) - Molecular Function for GALNT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GALNT12: view
genes like me logo Genes that share phenotypes with GALNT12: view

Animal Model Products

CRISPR Products

miRNA for GALNT12 Gene

miRTarBase miRNAs that target GALNT12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALNT12

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GALNT12 Gene

Localization for GALNT12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT12 Gene

Golgi apparatus membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALNT12 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GALNT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GALNT12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GALNT12 Gene

Pathways & Interactions for GALNT12 Gene

genes like me logo Genes that share pathways with GALNT12: view

UniProtKB/Swiss-Prot Q8IXK2-GLT12_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with GALNT12: view

No data available for SIGNOR curated interactions for GALNT12 Gene

Drugs & Compounds for GALNT12 Gene

(3) Drugs for GALNT12 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 56
Uridine 5'-diphosphate Experimental Pharma 0
Calcium Nutra 6556

(3) Additional Compounds for GALNT12 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-amino-2-Deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-amino-2-Deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
UDP-N-acetyl-alpha-D-galactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • URIDINE-diphosphATE-N-acetylgalactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphoric acid (non-preferred name)
  • UDP-N-Acetyl-a-D-galactosamine
  • UDP-N-Acetyl-α-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with GALNT12: view

Transcripts for GALNT12 Gene

mRNA/cDNA for GALNT12 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALNT12

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT12 Gene

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:
SP6:

Relevant External Links for GALNT12 Gene

GeneLoc Exon Structure for
GALNT12

Expression for GALNT12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GALNT12 Gene

mRNA differential expression in normal tissues according to GTEx for GALNT12 Gene

This gene is overexpressed in Colon - Transverse (x6.7), Brain - Cerebellum (x4.4), Brain - Cerebellar Hemisphere (x4.2), and Stomach (x4.0).

Protein differential expression in normal tissues from HIPED for GALNT12 Gene

This gene is overexpressed in Adipocyte (42.2) and Esophagus (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GALNT12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALNT12

SOURCE GeneReport for Unigene cluster for GALNT12 Gene:

Hs.47099

mRNA Expression by UniProt/SwissProt for GALNT12 Gene:

Q8IXK2-GLT12_HUMAN
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.

Evidence on tissue expression from TISSUES for GALNT12 Gene

  • Intestine(4.5)
  • Lung(4.4)
  • Bone marrow(4)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with GALNT12: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT12 Gene

Orthologs for GALNT12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GALNT12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GALNT12 30 31
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GALNT12 30 31
  • 90.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GALNT12 30 31
  • 87.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Galnt12 30 17 31
  • 84.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Galnt12 30
  • 83.43 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GALNT12 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GALNT12 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GALNT12 30 31
  • 75.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GALNT12 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia galnt12 30
  • 68.86 (n)
Zebrafish
(Danio rerio)
Actinopterygii galnt12 30 31
  • 68.48 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4670 31
  • 56 (a)
OneToMany
Species where no ortholog for GALNT12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GALNT12 Gene

ENSEMBL:
Gene Tree for GALNT12 (if available)
TreeFam:
Gene Tree for GALNT12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GALNT12: view image

Paralogs for GALNT12 Gene

(24) SIMAP similar genes for GALNT12 Gene using alignment to 3 proteins:

  • GLT12_HUMAN
  • L8EB63_HUMAN
  • Q68VJ1_HUMAN
genes like me logo Genes that share paralogs with GALNT12: view

Variants for GALNT12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GALNT12 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1272 Risk Factor: Colorectal cancer 1 98,837,121(+) C/G NONSENSE
639336 Uncertain Significance: Hereditary cancer-predisposing syndrome; not provided 98,807,701(+) G/T INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
640134 Uncertain Significance: not provided 98,807,792(+) G/T MISSENSE_VARIANT
640636 Uncertain Significance: not provided 98,807,821(+) T/TGGGGCC INFRAME_INSERTION
641269 Uncertain Significance: not provided 98,831,821(+) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GALNT12 Gene

Structural Variations from Database of Genomic Variants (DGV) for GALNT12 Gene

Variant ID Type Subtype PubMed ID
esv3621214 CNV gain 21293372
nsv1126914 CNV deletion 24896259
nsv614936 CNV gain 21841781
nsv825009 CNV loss 20364138
nsv825010 CNV gain 20364138

Variation tolerance for GALNT12 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.70; 66.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNT12 Gene

Human Gene Mutation Database (HGMD)
GALNT12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT12 Gene

Disorders for GALNT12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GALNT12 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer 1
  • colorectal cancer, susceptibility to, 1
colorectal cancer
  • crc
familial colorectal cancer type x
  • fcctx
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GLT12_HUMAN
  • 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. {ECO:0000269 PubMed:19617566, ECO:0000269 PubMed:22461326, ECO:0000269 PubMed:24115450}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. The role of GALNT12 in colon cancer susceptibility is however subject to discussion: studies on 103 probants with colorectal cancer 1 (CRCS1) suggest that it does not act as a major contributor of CRCS1 (PubMed:24115450). {ECO:0000269 PubMed:24115450}.

Additional Disease Information for GALNT12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GALNT12: view

No data available for Genatlas for GALNT12 Gene

Publications for GALNT12 Gene

  1. Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. (PMID: 19617566) Guda K … Markowitz SD (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23 41
  2. Molecular cloning and characterization of a novel member of the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase family, pp-GalNAc-T12. (PMID: 12135769) Guo JM … Narimatsu H (FEBS letters 2002) 2 3 4
  3. GALNT12 is not a major contributor of familial colorectal cancer type X. (PMID: 24115450) Seguí N … Valle L (Human mutation 2014) 3 4
  4. Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. (PMID: 22461326) Clarke E … Woods MO (Human mutation 2012) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for GALNT12 Gene

  • Signalway Proteins for GALNT12

Sources for GALNT12 Gene