Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2590
Gene name Gene Name - the full gene name approved by the HGNC.
Polypeptide N-acetylgalactosaminyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GALNT2
Synonyms (NCBI Gene) Gene synonyms aliases
CDG2T, GalNAc-T2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG2T
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.13
Summary Summary 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 hi
miRNA miRNA 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
MIRT038529 hsa-miR-99b-3p CLASH 23622248
MIRT036420 hsa-miR-1226-3p 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602274 4124 ENSG00000143641
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: Polypep
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, M
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
Tissue specificity TISSUE SPECIFICITY: Detected in urine (at protein level) (PubMed:37453717). Widely expressed. {ECO:0000269|PubMed:37453717, ECO:0000269|PubMed:7592619}.
Sequence
MRRRSRMLLCFAFLWVLGIAYYMYSGGGSALAGGAGGGAGRKEDWNEIDPIKKKDLHHSN
GEEKAQSMETLPPGKVRWPDFNQEAYVGGTMVRSGQDPYARNKFNQVESDKLRMDRAIPD
TRHDQCQRKQWRVDLPATSVVITFHNEARSALLRTVVSVLKKSPPHLIKEIILVDDYSND
PEDGALLGKIEKVRVLRNDRREGLMRSRVRGADAAQAKVLTFLDSHCECNEHWLEPLLER
VAEDRTRVVSPIIDVINMDNFQYVGASADLKGGFDWNLVFKWDYMTPEQRRSRQGNPVAP
IKTPMIAGGLFVMDKFYFEELG
KYDMMMDVWGGENLEISFRVWQCGGSLEIIPCSRVGHV
FRKQHPYTFPGGSGTVFARNTRRAAEVWMDEYKNFYYAAVPSARNVPYGNIQSRLELRKK
LSCKPFKWYLENVYPELRVPDHQDIAFGALQQGTNCLDTLGHFADGVVGVYECHNAGGNQ
EWALTKEKSVKHMDLCLTVVDRAPGSLIKLQGCRENDSRQKWEQIEGNSKLRHVGSNLCL
DSRTAKSGGLSVEVCGPALSQQW
KFTLNLQQ
Sequence length 571
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Metabolic syndrome Metabolic Syndrome X rs367643250, rs587777380, rs777736953 22399527
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
26198764
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 21347282 ClinVar
Congenital disorder of glycosylation congenital disorder of glycosylation, type iit GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Neuroticism Neuroticism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36524130
Atherosclerosis Associate 34267728
Bipolar Disorder Associate 31279243
Breast Neoplasms Associate 35739271
Carcinogenesis Associate 36110252
Colorectal Neoplasms Associate 36409270
Coronary Artery Disease Associate 23382687
Coronary Disease Associate 25084356
Coronary Restenosis Associate 37468836
Diabetes Gestational Associate 34267728