Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2590
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Polypeptide N-acetylgalactosaminyltransferase 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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GALNT2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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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.
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1q42.13 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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 |
|
Sequence length |
571 |
Interactions |
View interactions
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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, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 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 |
Psoriasis |
Psoriasis |
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|
GWAS |
Insomnia |
Insomnia |
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|
GWAS |
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