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MGAT2 C339* [Golgi membrane]
Stable Identifier
R-HSA-4839829
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase, MGAT2_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective MGAT2 causes MGAT2-CDG (CDG-2a) (Homo sapiens)
Defective MGAT2 does not transfer GlcNAc to N-glycans (Homo sapiens)
MGAT2 mutants [Golgi membrane] (Homo sapiens)
MGAT2 C339* [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q10469 MGAT2
Gene Names
MGAT2
Chain
chain:1-447
Reference Genes
BioGPS Gene:4247 MGAT2
COSMIC (genes):MGAT2 MGAT2
CTD Gene:4247 MGAT2
dbSNP Gene:4247 MGAT2
ENSEMBL:ENSG00000168282 MGAT2
HGNC:7045 MGAT2
KEGG Gene (Homo sapiens):4247 MGAT2
Monarch:4247 MGAT2
NCBI Gene:4247 MGAT2
OMIM:602616 MGAT2
UCSC:Q10469 MGAT2
Reference Transcript
RefSeq:NM_002408.3 MGAT2
Other Identifiers
11736011_s_at
11736012_x_at
11750984_a_at
11756109_s_at
16783920
203101_s_at
203102_s_at
211061_s_at
3534867
3534868
3534869
3534870
3534871
3534872
3534873
3534874
3534875
3534876
3534877
40806_at
4247
7974207
A_14_P104481
A_23_P65558
GE58287
GO:0000139
GO:0003674
GO:0005575
GO:0005622
GO:0005737
GO:0005794
GO:0005795
GO:0005975
GO:0006464
GO:0006486
GO:0006487
GO:0008150
GO:0008455
GO:0009058
GO:0009312
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0018279
GO:0030145
GO:0030246
GO:0042803
GO:0043167
GO:0043226
GO:0046872
Hs.172195.0.S1_3p_s_at
ILMN_1690925
ILMN_1735751
ILMN_1739151
ILMN_2342240
ILMN_2346831
PH_hs_0022214
TC14000275.hg
U15128_at
g13623554_3p_s_at
g6031183_3p_a_at
Participant Of
hasMember
MGAT2 mutants [Golgi membrane]
Other forms of this molecule
MGAT2 N318D [Golgi membrane]
MGAT2 S290F [Golgi membrane]
MGAT2 H262R [Golgi membrane]
MGAT2 K237N [Golgi membrane]
MGAT2 [Golgi membrane]
Modified Residues
Name
L-cysteine 339 replaced with unknown
Coordinate
339
PsiMod
L-cysteine removal [MOD:01635]
A protein modification that effectively removes or replaces an L-cysteine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type II
0050571
Cross References
RefSeq
NP_002399.1
OpenTargets
ENSG00000168282
HPA
ENSG00000168282-MGAT2
GeneCards
Q10469
Ensembl
ENST00000305386
,
ENSP00000307423
,
ENSG00000168282
ZINC target
Q10469
PRO
Q10469
Orphanet
16396
HMDB Protein
HMDBP01609
PDB
5VCS
,
5VCM
,
5VCR
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