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GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 2590, updated on 26-May-2016
Official Symbol
GALNT2provided by HGNC
Official Full Name
polypeptide N-acetylgalactosaminyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:4124
See related
Ensembl:ENSG00000143641 HPRD:03782; MIM:602274; Vega:OTTHUMG00000037771
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GalNAc-T2
Summary
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]
Orthologs
Location:
1q41-q42
Exon count:
20
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (230057789..230282130)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (230202956..230417875)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373163 Neighboring gene uncharacterized LOC101927532 Neighboring gene piggyBac transposable element derived 5 Neighboring gene uncharacterized LOC105373164

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
NHGRI GWA Catalog
Genome-wide association study of serum albumin:globulin ratio in Korean populations.
NHGRI GWA Catalog
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog
  • COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystemIn addition to the better characterized COPI-dependent retrograde Golgi-to-ER pathway, a second COPI-independent pathway has also been identified. This pathway is RAB6 dependent and transports cargo...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mucin type O-Glycan biosynthesis, organism-specific biosystem (from KEGG)
    Mucin type O-Glycan biosynthesis, organism-specific biosystemO-glycans are a class of glycans that modify serine or threonine residues of proteins. Biosynthesis of O-glycans starts from the transfer of N-acetylgalactosamine (GalNAc) to serine or threonine. The...
  • Mucin type O-Glycan biosynthesis, conserved biosystem (from KEGG)
    Mucin type O-Glycan biosynthesis, conserved biosystemO-glycans are a class of glycans that modify serine or threonine residues of proteins. Biosynthesis of O-glycans starts from the transfer of N-acetylgalactosamine (GalNAc) to serine or threonine. The...
  • O-glycan biosynthesis, mucin type core, organism-specific biosystem (from KEGG)
    O-glycan biosynthesis, mucin type core, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
  • O-glycan biosynthesis, mucin type core, conserved biosystem (from KEGG)
    O-glycan biosynthesis, mucin type core, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
    O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • mucin core 1 and core 2 O-glycosylation, organism-specific biosystem (from BIOCYC)
    mucin core 1 and core 2 O-glycosylation, organism-specific biosystemGeneral Background Glycosylation is one of the major types of post-translational modification of proteins, and is an essential process in all eukaryotes. Protein glycosylation is known to be involve...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
polypeptide N-acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
polypeptide N-acetylgalactosaminyltransferase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing IDA
Inferred from Direct Assay
more info
PubMed 
O-glycan processing TAS
Traceable Author Statement
more info
 
immunoglobulin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked glycosylation via serine IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked glycosylation via threonine IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi stack IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of Golgi membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
polypeptide N-acetylgalactosaminyltransferase 2
Names
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)
polypeptide GalNAc transferase 2
pp-GaNTase 2
NP_001278795.1
NP_004472.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011854.2 RefSeqGene

    Range
    14407..229342
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291866.1NP_001278795.1  polypeptide N-acetylgalactosaminyltransferase 2 isoform 2

    See identical proteins and their annotated locations for NP_001278795.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AK300453, BC050583, BE328743, X85019
    UniProtKB/Swiss-Prot
    Q10471
    UniProtKB/TrEMBL
    B7Z6K2, G3V1S6
    Conserved Domains (3) summary
    cd02510
    Location:101396
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    smart00458
    Location:418528
    RICIN; Ricin-type beta-trefoil
    cd00161
    Location:418527
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
  2. NM_004481.4NP_004472.1  polypeptide N-acetylgalactosaminyltransferase 2 precursor

    See identical proteins and their annotated locations for NP_004472.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC041120, BC050583, BE328743, BG773173, X85019
    Consensus CDS
    CCDS1582.1
    UniProtKB/Swiss-Prot
    Q10471
    Related
    ENSP00000355632, OTTHUMP00000035893, ENST00000366672, OTTHUMT00000092158
    Conserved Domains (3) summary
    cd02510
    Location:139434
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    smart00458
    Location:456566
    RICIN; Ricin-type beta-trefoil
    cd00161
    Location:456565
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

RNA

  1. NR_120373.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and contains an alternate 3'-terminal exon. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC041120, BF727269, BG773173
    Related
    ENST00000488903

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    230057789..230282130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544154.1XP_011542456.1  

    Conserved Domains (3) summary
    cd02510
    Location:115410
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    smart00458
    Location:432542
    RICIN; Ricin-type beta-trefoil
    cd00161
    Location:432541
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
  2. XM_011544155.1XP_011542457.1  

    Conserved Domains (3) summary
    cd02510
    Location:72367
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    smart00458
    Location:389499
    RICIN; Ricin-type beta-trefoil
    cd00161
    Location:389498
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    231466130..231690434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)