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Aliases for GALNT2 Gene

Aliases for GALNT2 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 2 2 3 5
  • Polypeptide GalNAc Transferase 2 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 2 (GalNAc-T2) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 2 3 4
  • Pp-GaNTase 2 3 4
  • EC 2.4.1.41 4 61
  • GalNAc-T2 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 2 4

External Ids for GALNT2 Gene

Previous GeneCards Identifiers for GALNT2 Gene

  • GC01P228683
  • GC01P225931
  • GC01P226676
  • GC01P227237
  • GC01P227238
  • GC01P226509
  • GC01P228269
  • GC01P230193
  • GC01P200802

Summaries for GALNT2 Gene

Entrez Gene Summary for GALNT2 Gene

  • 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]

GeneCards Summary for GALNT2 Gene

GALNT2 (Polypeptide N-Acetylgalactosaminyltransferase 2) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. GO annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT16.

UniProtKB/Swiss-Prot for GALNT2 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 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.

Gene Wiki entry for GALNT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT2 Gene

Genomics for GALNT2 Gene

Regulatory Elements for GALNT2 Gene

Enhancers for GALNT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G230101 2 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +47.2 47201 6.3 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 NUP133 GALNT2 ABCB10 GC01P230113
GH01G230204 1.5 Ensembl ENCODE dbSUPER 20 +147.6 147553 2.3 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 NCOA1 ZNF592 MBD2 SMARCA4 GALNT2 NUP133 GC01M230200 GC01P230113
GH01G230231 1.1 Ensembl ENCODE dbSUPER 19.3 +173.8 173812 1.2 ZNF335 RFX1 NRF1 FOXJ2 GABPA YY1 GALNT2 ENSG00000224407 GC01M230200 GC01P230113
GH01G230208 1.3 Ensembl ENCODE dbSUPER 14.5 +153.0 153026 5.2 PKNOX1 TBL1XR1 WRNIP1 ZNF121 EGR1 GATA2 ZNF548 FOS RELB ETV6 GALNT2 NUP133 TAF5L ABCB10 HMGN2P19 URB2 LOC644006 GC01M230200 GC01P230113
GH01G230266 1.4 Ensembl ENCODE dbSUPER 11.9 +210.5 210523 2.8 HDGF PKNOX1 ZNF133 KLF17 GLI4 RAD21 ZNF121 GLIS2 ZNF143 ZNF362 GALNT2 ENSG00000227006 GC01M230200
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GALNT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GALNT2 Gene

Chromosome:
1
Start:
230,057,789 bp from pter
End:
230,282,130 bp from pter
Size:
224,342 bases
Orientation:
Plus strand

Genomic View for GALNT2 Gene

Genes around GALNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT2 Gene

Proteins for GALNT2 Gene

  • Protein details for GALNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q10471-GALT2_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 2
    Protein Accession:
    Q10471
    Secondary Accessions:
    • A8K1Y3
    • B7Z8V8
    • C5HU00
    • Q9NPY4

    Protein attributes for GALNT2 Gene

    Size:
    571 amino acids
    Molecular mass:
    64733 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GALNT2 Gene

    Alternative splice isoforms for GALNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT2 Gene

Selected DME Specific Peptides for GALNT2 Gene

Q10471:
  • SFRVWQCGG
  • RAAEVWMD
  • VLTFLDSH
  • SPPHLIKEI
  • VGHVFRK
  • AEVWMDEYK
  • CGGSLEI
  • LEIIPCS
  • FLDSHCE
  • WGGENLE
  • PCSRVGH

Post-translational modifications for GALNT2 Gene

  • Ubiquitination at isoforms=2103
  • Glycosylation at isoforms=67, isoforms=70, and isoforms=368
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNT2 Gene

Domains & Families for GALNT2 Gene

Gene Families for GALNT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q10471

UniProtKB/Swiss-Prot:

GALT2_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 GALNT2: view

Function for GALNT2 Gene

Molecular function for GALNT2 Gene

GENATLAS Biochemistry:
galactosamine
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 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.

Enzyme Numbers (IUBMB) for GALNT2 Gene

Gene Ontology (GO) - Molecular Function for GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity TAS --
GO:0005515 protein binding IPI 21699783
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030145 manganese ion binding IDA 9295285
genes like me logo Genes that share ontologies with GALNT2: view
genes like me logo Genes that share phenotypes with GALNT2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GALNT2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GALNT2 Gene

Localization for GALNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT2 Gene

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.

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 GALNT2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 colocalizes_with Golgi apparatus IEA,IDA 12506059
GO:0005795 Golgi stack IDA 9852147
genes like me logo Genes that share ontologies with GALNT2: view

Pathways & Interactions for GALNT2 Gene

genes like me logo Genes that share pathways with GALNT2: view

UniProtKB/Swiss-Prot Q10471-GALT2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002378 immunoglobulin biosynthetic process IDA 12438318
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation IDA 16434399
GO:0016266 O-glycan processing TAS --
GO:0018242 protein O-linked glycosylation via serine IDA 9295285
genes like me logo Genes that share ontologies with GALNT2: view

No data available for SIGNOR curated interactions for GALNT2 Gene

Drugs & Compounds for GALNT2 Gene

(4) Drugs for GALNT2 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atenolol Approved Pharma Antagonist 104
Manganese Approved Nutra 34
Uridine-5'-Diphosphate Experimental Pharma 0
calcium Nutra 0

(3) Additional Compounds for GALNT2 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 GALNT2: view

Transcripts for GALNT2 Gene

Unigene Clusters for GALNT2 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a ·
SP1: - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: -
SP5:
SP6: - -
SP7: -
SP8:
SP9:

ExUns: 18b · 18c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for GALNT2 Gene

GeneLoc Exon Structure for
GALNT2
ECgene alternative splicing isoforms for
GALNT2

Expression for GALNT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALNT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALNT2 Gene

This gene is overexpressed in Liver (x4.9).

Protein differential expression in normal tissues from HIPED for GALNT2 Gene

This gene is overexpressed in Serum (19.6), Bone (8.3), and Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GALNT2 Gene



NURSA nuclear receptor signaling pathways regulating expression of GALNT2 Gene:

GALNT2

SOURCE GeneReport for Unigene cluster for GALNT2 Gene:

Hs.743964

mRNA Expression by UniProt/SwissProt for GALNT2 Gene:

Q10471-GALT2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for GALNT2 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Lung(2.9)
  • Skin(2.5)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with GALNT2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT2 Gene

Orthologs for GALNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNT2 34 35
  • 99.82 (n)
oppossum
(Monodelphis domestica)
Mammalia GALNT2 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm20388 35
  • 95 (a)
OneToMany
Galnt2 34 16 35
  • 87.37 (n)
dog
(Canis familiaris)
Mammalia GALNT2 34 35
  • 91.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT2 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GALNT2 34 35
  • 89.94 (n)
rat
(Rattus norvegicus)
Mammalia Galnt2 34
  • 87.6 (n)
chicken
(Gallus gallus)
Aves GALNT2 34 35
  • 80.88 (n)
lizard
(Anolis carolinensis)
Reptilia GALNT2 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt2 34
  • 75.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21180 34
zebrafish
(Danio rerio)
Actinopterygii galnt2 34 35
  • 77.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3254 36
  • 66 (a)
pgant2 34 35
  • 63.9 (n)
GalNAc-T1 36
  • 39 (a)
CG2103 36
  • 37 (a)
CG10000 36
  • 35 (a)
CG7297 36
  • 34 (a)
CG7579 36
  • 29 (a)
CG7304 36
  • 28 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010078 34
  • 60.92 (n)
worm
(Caenorhabditis elegans)
Secernentea gly-4 34
  • 52.38 (n)
H38K22.5c 36
  • 47 (a)
Y39E4B.12a 36
  • 44 (a)
Y39E4B.12b 36
  • 44 (a)
Y39E4B.12c 36
  • 44 (a)
Y47D3A.23 36
  • 38 (a)
gly-5 35
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10774 35
  • 67 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2977 34
Species where no ortholog for GALNT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for GALNT2 Gene

ENSEMBL:
Gene Tree for GALNT2 (if available)
TreeFam:
Gene Tree for GALNT2 (if available)

Paralogs for GALNT2 Gene

Variants for GALNT2 Gene

Sequence variations from dbSNP and Humsavar for GALNT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000009103 -- 230,157,889(+) TTGAT(G/T)GTGGT intron-variant
rs1000034603 -- 230,237,531(+) CATAT(C/G)CACTC intron-variant
rs1000039982 -- 230,085,343(+) GTCCC(A/G)TGGAA intron-variant
rs1000042004 -- 230,195,273(+) GTTCA(G/T)TGGCA intron-variant
rs1000052215 -- 230,154,130(+) GCATA(C/T)TGCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GALNT2 Gene

Variant ID Type Subtype PubMed ID
dgv151e212 CNV loss 25503493
esv2668920 CNV deletion 23128226
esv2724572 CNV deletion 23290073
esv2724584 CNV deletion 23290073
esv2724595 CNV deletion 23290073
esv2724606 CNV deletion 23290073
esv2724617 CNV deletion 23290073
esv2724628 CNV deletion 23290073
esv275327 CNV gain+loss 21479260
esv3589083 CNV gain 21293372
esv3589084 CNV gain 21293372
esv3589087 CNV loss 21293372
esv3589090 CNV gain 21293372
esv3891204 CNV loss 25118596
nsv1075407 CNV duplication 25765185
nsv1121790 CNV deletion 24896259
nsv1128632 CNV duplication 24896259
nsv1146726 CNV duplication 26484159
nsv473679 CNV novel sequence insertion 20440878
nsv516432 CNV loss 19592680
nsv518223 CNV loss 19592680
nsv520656 CNV loss 19592680
nsv528956 CNV loss 19592680
nsv827186 CNV loss 20364138
nsv832814 CNV gain 17160897
nsv832825 CNV loss 17160897

Variation tolerance for GALNT2 Gene

Residual Variation Intolerance Score: 16.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.83; 73.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALNT2 Gene

Human Gene Mutation Database (HGMD)
GALNT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT2 Gene

Disorders for GALNT2 Gene

Relevant External Links for GALNT2

Genetic Association Database (GAD)
GALNT2
Human Genome Epidemiology (HuGE) Navigator
GALNT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALNT2

No disorders were found for GALNT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GALNT2 Gene

Publications for GALNT2 Gene

  1. Initiation of O-glycan synthesis in IgA1 hinge region is determined by a single enzyme, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 2. (PMID: 12438318) Iwasaki H. … Narimatsu H. (J. Biol. Chem. 2003) 3 4 22 64
  2. Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D- galactosamine:polypeptide N-acetylgalactosaminyltransferase. (PMID: 7592619) White T. … Clausen H. (J. Biol. Chem. 1995) 2 3 4 64
  3. 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. (PMID: 22399527) Kristiansson K. … Salomaa V. (Circ Cardiovasc Genet 2012) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for GALNT2 Gene

Sources for GALNT2 Gene

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