GediPNet logo

GALNT2 (polypeptide N-acetylgalactosaminyltransferase 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2590
Gene nameGene Name - the full gene name approved by the HGNC.
Polypeptide N-acetylgalactosaminyltransferase 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GALNT2
SynonymsGene synonyms aliases
CDG2T, GalNAc-T2
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.13
SummarySummary of gene provided in NCBI Entrez 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]
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025677 hsa-miR-7-5p Microarray 19073608
MIRT027497 hsa-miR-98-5p Microarray 19088304
MIRT032309 hsa-let-7b-5p Proteomics 18668040
MIRT036420 hsa-miR-1226-3p CLASH 23622248
MIRT038529 hsa-miR-99b-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IDA 9295285, 12438318, 16434399, 18562306, 19460755
GO:0005515 Function Protein binding IPI 21699783, 25416956, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q10471
Protein name Polypeptide N-acetylgalactosaminyltransferase 2 (EC 2.4.1.41) (Polypeptide GalNAc transferase 2) (GalNAc-T2) (pp-GaNTase 2) (Protein-UDP acetylgalactosaminyltransferase 2) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2) [Cleaved into: Polypeptide N-acetylgalactosaminyltransferase 2 soluble form]
Protein 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. Involved in O-linked glycosylation of APOC-III, ANGPTL3 and PLTP. It participates to the regulation of HDL-C metabolism (PubMed:27508872, PubMed:32293671).
PDB 2FFU , 2FFV , 4D0T , 4D0Z , 4D11 , 5AJN , 5AJO , 5AJP , 5FV9 , 5NDF , 6E7I , 6EGS , 6NQT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00535 Glycos_transf_2
139 322
Glycosyl transferase family 2
Family
PF00652 Ricin_B_lectin
446 563
Ricin-type beta-trefoil lectin domain
Domain
Sequence
MRRRSRMLLCFAFLWVLGIAYYMYSGGGSALAGGAGGGAGRKEDWNEIDPIKKKDLHHSN
GEEKAQSMETLPPGKVRWPDFNQEAYVGGTMVRSGQDPYARNKFNQVESDKLRMDRAIPD
TRHDQCQRKQWRVDLPATSVVITFHNEARSALLRTVVSVLKKSPPHLIKEIILVDDYSND
PEDGALLGKIEKVRVLRNDRREGLMRSRVRGADAAQAKVLTFLDSHCECNEHWLEPLLER
VAEDRTRVVSPIIDVINMDNFQYVGASADLKGGFDWNLVFKWDYMTPEQRRSRQGNPVAP
IKTPMIAGGLFVMDKFYFEELG
KYDMMMDVWGGENLEISFRVWQCGGSLEIIPCSRVGHV
FRKQHPYTFPGGSGTVFARNTRRAAEVWMDEYKNFYYAAVPSARNVPYGNIQSRLELRKK
LSCKPFKWYLENVYPELRVPDHQDIAFGALQQGTNCLDTLGHFADGVVGVYECHNAGGNQ
EWALTKEKSVKHMDLCLTVVDRAPGSLIKLQGCRENDSRQKWEQIEGNSKLRHVGSNLCL
DSRTAKSGGLSVEVCGPALSQQW
KFTLNLQQ
Sequence length 571
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways
  COPI-independent Golgi-to-ER retrograde traffic
O-linked glycosylation of mucins
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 26198764
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Coronary heart disease Coronary heart disease rs-1 21347282
Leukemia Leukemia, Myelocytic, Acute rs-1, rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412