ALG2 V68G [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5633236
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Alpha-1,3-mannosyltransferase ALG2, ALG2_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9H553 ALG2
Gene Names
ALG2, UNQ666/PRO1298
Chain
chain:1-416
Reference Genes
BioGPS Gene:85365 ALG2
COSMIC (genes):ALG2 ALG2
CTD Gene:85365 ALG2
dbSNP Gene:85365 ALG2
ENSEMBL:ENSG00000119523 ALG2
HGNC:23159 ALG2
KEGG Gene (Homo sapiens):85365 ALG2
Monarch:85365 ALG2
NCBI Gene:85365 ALG2
OMIM:607905 ALG2
UCSC:Q9H553 ALG2
Reference Transcript
Other Identifiers
0002230215
0005360113
11724754_a_at
11724755_at
11757951_s_at
17096546
225621_at
3217513
3217514
3217515
3217516
3217518
3217519
3217521
3217522
3217523
44054_at
59299_at
76713_r_at
8162827
85365
A_23_P146728
A_33_P3297050
GE79287
GO:0000033
GO:0003674
GO:0004378
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005737
GO:0005789
GO:0005829
GO:0005856
GO:0006464
GO:0006486
GO:0006488
GO:0006490
GO:0006629
GO:0008150
GO:0009058
GO:0015629
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0033577
GO:0043226
GO:0046982
GO:0047485
GO:0048306
GO:0048471
GO:0051592
GO:0097502
GO:0102704
Hs.40919.1.S1_3p_at
ILMN_1722688
ILMN_1737945
PH_hs_0028866
TC09001411.hg
TC09002699.hg
Participant Of
hasMember
Other forms of this molecule
ALG2 G347Vfs*27 [endoplasmic reticulum membrane]
ALG2 72-75delinsSPR [endoplasmic reticulum membrane]
ALG2 [endoplasmic reticulum membrane]
Modified Residues
Name
L-valine 68 replaced with glycine
Coordinate
68
PsiMod
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
Disease
Name Identifier Synonyms
congenital myasthenic syndrome 3635
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Orphanet
HMDB Protein
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