Human Gene GALNT2 (uc010pwa.1) Description and Page Index
Description: Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA. RefSeq Summary (NM_004481): This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. Transcript (Including UTRs) Position: hg19 chr1:230,202,956-230,417,875 Size: 214,920 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr1:230,203,028-230,415,204 Size: 212,177 Coding Exon Count: 16
ID:GALT2_HUMAN DESCRIPTION: RecName: Full=Polypeptide N-acetylgalactosaminyltransferase 2; EC=22.214.171.124; AltName: Full=Polypeptide GalNAc transferase 2; Short=GalNAc-T2; Short=pp-GaNTase 2; AltName: Full=Protein-UDP acetylgalactosaminyltransferase 2; AltName: Full=UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2; Contains: RecName: Full=Polypeptide N-acetylgalactosaminyltransferase 2 soluble form; 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 a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region. CATALYTIC ACTIVITY: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. COFACTOR: Manganese (By similarity). COFACTOR: Calcium (By similarity). PATHWAY: Protein modification; protein glycosylation. SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Resides preferentially in the trans and medial parts of the Golgi stack. A secreted form also exists. TISSUE SPECIFICITY: Widely expressed. 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. WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Polypeptide N-acetylgalactosaminyltransferase 2; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_484";
Genetic Association Studies of Complex Diseases and Disorders
Cholesterol, HDL Cristen J Willer et al. Nature genetics 2008, Newly identified loci that influence lipid concentrations and risk of coronary artery disease., Nature genetics.
Cholesterol, HDL Sekar Kathiresan et al. Nature genetics 2008, Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans., Nature genetics.
Cholesterol, HDL Sekar Kathiresan et al. Nature genetics 2009, Common variants at 30 loci contribute to polygenic dyslipidemia., Nature genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q10471
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.