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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 63
  • 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 Metabolism and Mucin type O-Glycan biosynthesis. 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 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for GALNT2 Gene at MOPED

Selected DME Specific Peptides for GALNT2 Gene

Post-translational modifications for GALNT2 Gene

  • Ubiquitination at Lys 103
  • Glycosylation at Ser 67, Thr 70, and Thr 368
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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.
  • 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 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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for GALNT2

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for GALNT2 Gene COMPARTMENTS Subcellular localization image for GALNT2 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0030173 integral component of Golgi membrane NAS 9852147
GO:0048471 perinuclear region of cytoplasm IDA 12506059
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:0018242 protein O-linked glycosylation via serine IDA 9295285
GO:0043687 post-translational protein modification TAS --
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 99
Uridine-5'-Diphosphate Experimental Pharma 0
Manganese Pharma 32
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:

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 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, MOPED, and MaxQB for GALNT2 Gene



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.
genes like me logo Genes that share expression patterns with GALNT2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia GALNT2 35
  • 89.94 (n)
  • 98.07 (a)
GALNT2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALNT2 35
  • 91.26 (n)
  • 98.3 (a)
GALNT2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galnt2 35
  • 87.37 (n)
  • 95.79 (a)
Galnt2 16
Galnt2 36
  • 96 (a)
OneToMany
Gm20388 36
  • 95 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia GALNT2 35
  • 99.82 (n)
  • 100 (a)
GALNT2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galnt2 35
  • 87.6 (n)
  • 97.89 (a)
oppossum
(Monodelphis domestica)
Mammalia GALNT2 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT2 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNT2 35
  • 80.88 (n)
  • 94.77 (a)
GALNT2 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALNT2 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt2 35
  • 75.85 (n)
  • 89.09 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21180 35
zebrafish
(Danio rerio)
Actinopterygii galnt2 35
  • 77.06 (n)
  • 87.1 (a)
galnt2 36
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10000 37
  • 35 (a)
CG2103 37
  • 37 (a)
CG3254 37
  • 66 (a)
CG7297 37
  • 34 (a)
CG7304 37
  • 28 (a)
CG7579 37
  • 29 (a)
GalNAc-T1 37
  • 39 (a)
pgant2 35
  • 63.9 (n)
  • 66.6 (a)
pgant2 36
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010078 35
  • 60.92 (n)
  • 63.29 (a)
worm
(Caenorhabditis elegans)
Secernentea H38K22.5c 37
  • 47 (a)
Y39E4B.12a 37
  • 44 (a)
Y39E4B.12b 37
  • 44 (a)
Y39E4B.12c 37
  • 44 (a)
Y47D3A.23 37
  • 38 (a)
gly-4 35
  • 52.38 (n)
  • 54.16 (a)
gly-5 36
  • 35 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2977 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10774 36
  • 67 (a)
OneToMany
Species with no ortholog for GALNT2:
  • 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

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

Variants for GALNT2 Gene

Sequence variations from dbSNP and Humsavar for GALNT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2273970 - 230,279,402(-) ACACA(C/T)CTCCA reference, missense
rs1923950 - 230,249,224(+) ATGAC(A/G)CCTGA reference, synonymous-codon
rs7022 -- 230,281,918(-) GACCA(C/G)CACAG utr-variant-3-prime
rs10005 -- 230,281,207(-) ACACA(C/T)GTGGG utr-variant-3-prime
rs11620 -- 230,281,662(-) CCCCC(A/G)GGGCA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv832814 CNV Gain 17160897
esv275327 CNV Gain+Loss 21479260
nsv873286 CNV Gain 21882294
nsv873287 CNV Loss 21882294
esv2668920 CNV Deletion 23128226
nsv528956 CNV Loss 19592680
nsv832825 CNV Loss 17160897
nsv873288 CNV Loss 21882294
esv2724572 CNV Deletion 23290073
esv2724584 CNV Deletion 23290073
esv2724595 CNV Deletion 23290073
nsv827186 CNV Loss 20364138
nsv518223 CNV Loss 19592680
nsv873289 CNV Loss 21882294
esv2724606 CNV Deletion 23290073
esv2724617 CNV Deletion 23290073
esv2724628 CNV Deletion 23290073
nsv520656 CNV Loss 19592680
nsv516432 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
GALNT2
Human Gene Mutation Database (HGMD)
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. 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 67
  2. 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 23
  3. Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family. (PMID: 9592121) Bennett E.P. … Clausen H. (Glycobiology 1998) 2 3
  4. Role of let-7b in the regulation of N-acetylgalactosaminyltransferase 2 in IgA nephropathy. (PMID: 25744272) Serino G. … Schena F.P. (Nephrol. Dial. Transplant. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for GALNT2 Gene

Sources for GALNT2 Gene

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