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Aliases for GALNT12 Gene

Aliases for GALNT12 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 12 2 3 5
  • 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
  • Colorectal Cancer, Susceptibility To 1 3
  • 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 familial colorectal cancer type x. Among its related pathways are Metabolism and O-linked glycosylation. GO annotations related to this gene include carbohydrate binding and 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

Promoters for GALNT12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GALNT12 on UCSC Golden Path with GeneCards custom track

Genomic Location for GALNT12 Gene

Chromosome:
9
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

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};

    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:
REFSEQ proteins:

Antibody Products

Domains & Families for GALNT12 Gene

Gene Families for GALNT12 Gene

Suggested Antigen Peptide Sequences for GALNT12 Gene

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.
  • 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

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

Animal Model Products

miRNA for GALNT12 Gene

miRTarBase miRNAs that target GALNT12

No data available for Gene Ontology (GO) - Molecular Function , 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
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
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for GALNT12 Gene

Pathways & Interactions for GALNT12 Gene

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

Pathways by source for GALNT12 Gene

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:0043687 post-translational protein modification 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
Uridine-5'-Diphosphate Experimental Pharma 0
Manganese Pharma 32
calcium Nutra 0

(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
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

Unigene Clusters for GALNT12 Gene

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

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 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, 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 expression patterns with GALNT12: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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 35
  • 99.71 (n)
  • 99.78 (a)
GALNT12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GALNT12 36
  • 89 (a)
OneToOne
GALNT12 35
  • 87.77 (n)
  • 89.17 (a)
dog
(Canis familiaris)
Mammalia GALNT12 35
  • 90.25 (n)
  • 91.35 (a)
GALNT12 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galnt12 16
Galnt12 35
  • 84.4 (n)
  • 87.04 (a)
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 36
  • 73 (a)
OneToOne
galnt12 35
  • 68.48 (n)
  • 73.26 (a)
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
VAR_064352 -
rs10987768 - 98,807,834(+) gggcc(A/G)gggct upstream-variant-2KB, reference, missense
rs1137654 - 98,808,054(-) AGCGC(A/C/T)CGGGC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs41306504 - 98,831,821(+) TGATC(A/G)ACTGG reference, missense, utr-variant-5-prime
VAR_064356 -

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

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)

Relevant External Links for GALNT12 Gene

HapMap Linkage Disequilibrium report
GALNT12
Human Gene Mutation Database (HGMD)
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: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer 1
  • colorectal cancer, susceptibility to, 1
familial colorectal cancer type x
  • fcctx
colorectal cancer
  • colorectal cancer, somatic
- 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}.

Relevant External Links for GALNT12

Genetic Association Database (GAD)
GALNT12
Human Genome Epidemiology (HuGE) Navigator
GALNT12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALNT12
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 S.D. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 23 48 67
  2. Expression of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-12 in gastric and colonic cancer cell lines and in human colorectal cancer. (PMID: 15557789) Guo J.M. … Narimatsu H. (Oncology 2004) 3 23
  3. 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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X. (PMID: 24115450) SeguA- N. … Valle L. (Hum. Mutat. 2014) 3

Products for GALNT12 Gene

Sources for GALNT12 Gene

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