Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4249
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
MGAT5 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
GNT-V, GNT-VA, MGAT5A, glcNAc-T V |
Chromosome
Chromosome number
|
2 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q21.2-q21.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It i |
UniProt ID |
Q09328
|
Protein name |
Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A (EC 2.4.1.155) (Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase V) (GlcNAc-T V) (GNT-V) (Mannoside acetylglucosaminyltransferase 5) (N-acetylglucosaminyl-transferase V) [Clea |
Protein function |
Catalyzes the addition of N-acetylglucosamine (GlcNAc) in beta 1-6 linkage to the alpha-linked mannose of biantennary N-linked oligosaccharides (PubMed:10395745, PubMed:30140003). Catalyzes an important step in the biosynthesis of branched, comp |
PDB |
5ZIB
,
5ZIC
,
6YJQ
,
6YJR
,
6YJS
,
6YJT
,
6YJU
,
6YJV
,
7YYI
,
7Z07
,
7Z08
,
7Z0B
,
8CE3
,
9F5H
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF15027
|
DUF4525 |
3 → 138 |
Domain of unknown function (DUF4525) |
Family |
PF15024
|
Glyco_transf_18 |
172 → 726 |
Glycosyltransferase family 18 |
Family |
|
Sequence |
|
Sequence length |
741 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 View all (4 more) |
20117844 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma |
|
|
GWAS |
Schizophrenia |
Schizophrenia |
|
|
GWAS |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Uveal Melanoma |
Uveal Melanoma |
Furthermore, knocking-down GPS2 promoted the proliferation and metastatic abilities of UM cells both in vivo and in vitro. |
|
GWAS, CBGDA |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
|
GWAS, CBGDA |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
24913443 |
Adenoma |
Associate
|
10673297 |
Autoimmune Diseases |
Associate
|
32352685 |
Bile Duct Neoplasms |
Associate
|
8900148 |
Breast Neoplasms |
Associate
|
17537730, 18271524, 38254997 |
Carcinoma Hepatocellular |
Associate
|
15044007 |
Colitis Ulcerative |
Associate
|
32352685 |
Colorectal Neoplasms |
Associate
|
10673297, 17878270 |
Depressive Disorder |
Associate
|
22628180 |
Diabetes Mellitus Type 1 |
Associate
|
23266418 |
Endometrial Neoplasms |
Associate
|
17971775 |
Fibrosarcoma |
Associate
|
19225046 |
Glioma |
Associate
|
17255279, 26526581, 33894774 |
IgA Vasculitis |
Associate
|
31430067 |
Inflammation |
Associate
|
37308935 |
Lung Neoplasms |
Associate
|
24913443 |
Melanoma |
Associate
|
8642259 |
Multiple Sclerosis |
Associate
|
23351704 |
Nasopharyngeal Carcinoma |
Associate
|
26617699 |
Neoplasm Metastasis |
Associate
|
10438459, 10673297, 11315257, 11604389, 16940045 |
Neoplasms |
Associate
|
10438459, 10673297, 11315257, 17537730, 17878270, 17971775, 19225046, 23107376, 32849657, 33894774 |
Ovarian Neoplasms |
Associate
|
33579350 |
Prostatic Neoplasms |
Associate
|
37314749 |
Pulmonary Disease Chronic Obstructive |
Associate
|
33879098 |
Stomach Neoplasms |
Associate
|
23107376, 29729225 |
|