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Aliases for GALNT12 Gene

Aliases for GALNT12 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 12 2 3
  • Polypeptide GalNAc Transferase 12 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 63
  • GalNAc-T12 3 4
  • CRCS1 3 6
  • Colorectal Cancer, Susceptibility To 1 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 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT4.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT12 Gene

Genomics for GALNT12 Gene

Regulatory Elements for GALNT12 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GALNT12 Gene

Start:
98,807,699 bp from pter
End:
98,850,081 bp from pter
Size:
42,383 bases
Orientation:
Plus strand

Genomic View for GALNT12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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};

    Alternative splice isoforms for GALNT12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT12 Gene

Proteomics data for GALNT12 Gene at MOPED

Selected DME Specific Peptides for GALNT12 Gene

Post-translational modifications for GALNT12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GALNT12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GALNT12 Gene

Gene Families for GALNT12 Gene

HGNC:
  • GLT2 :Glycosyltransferase family 2 domain containing

Suggested Antigen Peptide Sequences for GALNT12 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IXK2

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.
  • The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
  • Contains 1 ricin B-type lectin domain.
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 CatalyticActivity: UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.
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

Enzyme Numbers (IUBMB) 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:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GALNT12: view

Phenotypes for GALNT12 Gene

GenomeRNAi human phenotypes for GALNT12:
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

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for GALNT12 Gene COMPARTMENTS Subcellular localization image for GALNT12 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 1
extracellular 1
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GALNT12 Gene

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

Pathways for GALNT12 Gene

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

Pathways by source for GALNT12 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006493 protein O-linked glycosylation TAS --
GO:0016266 O-glycan processing TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with GALNT12: view

Compounds for GALNT12 Gene

(5) HMDB Compounds for GALNT12 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Lactosamine
  • beta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
13000-25-4
Manganese
  • manganese
7439-96-5
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with GALNT12: view

Transcripts for GALNT12 Gene

Unigene Clusters for GALNT12 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GALNT12

Primer Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
GALNT12

Expression for GALNT12 Gene

mRNA expression in normal human tissues for GALNT12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Colon - Transverse (6.7), Brain - Cerebellum (4.4), Brain - Cerebellar Hemisphere (4.2), and Stomach (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GALNT12 Gene

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.
genes like me logo Genes that share expressions with GALNT12: view

In Situ Assay Products

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 35
  • 99.71 (n)
  • 99.78 (a)
GALNT12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GALNT12 35
  • 87.77 (n)
  • 89.17 (a)
GALNT12 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALNT12 35
  • 90.25 (n)
  • 91.35 (a)
GALNT12 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galnt12 35
  • 84.4 (n)
  • 87.04 (a)
Galnt12 16
Galnt12 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALNT12 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT12 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galnt12 35
  • 83.43 (n)
  • 86.63 (a)
chicken
(Gallus gallus)
Aves GALNT12 35
  • 75.45 (n)
  • 79.65 (a)
GALNT12 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALNT12 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt12 35
  • 68.86 (n)
  • 74.22 (a)
zebrafish
(Danio rerio)
Actinopterygii galnt12 35
  • 68.48 (n)
  • 73.26 (a)
galnt12 36
  • 73 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4670 36
  • 56 (a)
OneToMany
Species with no ortholog for GALNT12:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for GALNT12 Gene

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

Variants for GALNT12 Gene

Sequence variations from dbSNP and Humsavar for GALNT12 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs754222 -- 98,808,871(-) GACAC(C/T)TCGAA intron-variant
rs763761 -- 98,833,500(-) acgca(C/G)cacat intron-variant
rs911928 -- 98,828,036(+) GCTGG(A/G)CTTGC intron-variant
rs999471 -- 98,839,363(-) ATATT(A/G)CCGTA intron-variant
rs1022795 -- 98,844,848(+) AAGGA(C/T)CCCCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv8264n71 CNV Gain 21882294
nsv825009 CNV Loss 20364138
nsv893617 CNV Gain 21882294
nsv825010 CNV Gain 20364138

Relevant External Links for GALNT12 Gene

HapMap Linkage Disequilibrium report
GALNT12
Human Gene Mutation Database (HGMD)
GALNT12
Locus Specific Mutation Databases (LSDB)
GALNT12

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

Disorders for GALNT12 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for GALNT12 Gene including...

Search for GALNT12 Gene in MalaCards »

(1) OMIM Diseases for GALNT12 Gene (610290)

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}.

Relevant External Links for GALNT12

Genetic Association Database (GAD)
GALNT12
Human Genome Epidemiology (HuGE) Navigator
GALNT12
genes like me logo Genes that share disorders with GALNT12: view

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 S.D. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 23 48
  2. Molecular cloning and characterization of a novel member of the UDP- GalNAc:polypeptide N-acetylgalactosaminyltransferase family, pp- GalNAc-T12(1). (PMID: 12135769) Guo J.-M. … Narimatsu H. (FEBS Lett. 2002) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for GALNT12 Gene

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Sources for GALNT12 Gene

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