ALG2 G347Vfs*27 [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-4549361
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Alpha-1,3-mannosyltransferase ALG2, ALG2_HUMAN
Icon
ALG2 G347Vfs*27 [endoplasmic reticulum membrane] icon
ALG2 G347Vfs*27 [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
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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:hsa:85365 ALG2
Monarch:85365 ALG2
NCBI Gene:85365 ALG2
OMIM:607905 ALG2
UCSC:Q9H553 ALG2
Reference Transcript
Other Identifiers
11724754_a_at
11724755_at
11757951_s_at
17096546
225621_PM_at
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:0003824
GO:0004378
GO:0005515
GO:0005783
GO:0005789
GO:0006486
GO:0006487
GO:0006488
GO:0006490
GO:0006629
GO:0016020
GO:0016740
GO:0016757
GO:0043226
GO:0098554
GO:0102704
GO:1901135
HMNXSV003028089
Hs.40919.1.S1_3p_at
ILMN_1722688
ILMN_1737945
PH_hs_0028866
TC09001411.hg
TC09002699.hg
Participates
as a member of
Other forms of this molecule
ALG2 72_75delinsSPR [endoplasmic reticulum membrane]
ALG2 V68G [endoplasmic reticulum membrane]
ALG2 [endoplasmic reticulum membrane]
Modified Residues
Name
Replacement of residues 347 to 372 by VDPWSPLTTVSQGFCVSLTRCTSQKQ
Disease
Cross References
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
Orphanet
HMDB Protein
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P54253 ATX1      0.556 3
 UniProt:P42858 HTT  1 0.556 3
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