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.
|
|
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 |
|
GO:0005794 |
Component |
Golgi apparatus |
IBA |
21873635 |
GO:0005794 |
Component |
Golgi apparatus |
IDA |
9852147 |
GO:0005794 |
Component |
Golgi apparatus |
IDA |
12506059 |
GO:0005795 |
Component |
Golgi stack |
IDA |
9852147 |
GO:0006493 |
Process |
Protein O-linked glycosylation |
IDA |
16434399, 19460755 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016266 |
Process |
O-glycan processing |
IDA |
18562306 |
GO:0016266 |
Process |
O-glycan processing |
TAS |
|
GO:0018215 |
Process |
Protein phosphopantetheinylation |
IEA |
|
GO:0018242 |
Process |
Protein O-linked glycosylation via serine |
IDA |
9295285, 12438318 |
GO:0018243 |
Process |
Protein O-linked glycosylation via threonine |
IDA |
9295285, 12438318, 18562306 |
GO:0030145 |
Function |
Manganese ion binding |
IDA |
9295285, 16434399 |
GO:0030173 |
Component |
Integral component of Golgi membrane |
NAS |
9852147 |
GO:0030246 |
Function |
Carbohydrate binding |
IEA |
|
GO:0032580 |
Component |
Golgi cisterna membrane |
IEA |
|
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IDA |
12506059 |
GO:0051604 |
Process |
Protein maturation |
IDA |
12438318 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
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.
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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 |
Metabolic syndrome |
Metabolic Syndrome X |
rs367643250, rs587777380, rs777736953 |
22399527 |
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