ALG2 G347Vfs*27 [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-4549361
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Alpha-1,3-mannosyltransferase ALG2, ALG2_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ALG2, UNQ666/PRO1298
Chain
chain:1-416
Reference Transcript
Other Identifiers
0005360113
00510+2.4.1.257+2.4.1.132
00513+2.4.1.257+2.4.1.132
11724754_a_at
11757951_s_at
17096546
225621_at
3217514
3217515
3217516
3217518
3217519
3217521
3217522
3217523
41512
41601
44054_at
76713_r_at
8162827
85365
A0A024R184
A0A0A0MTE0
A_23_P146728
AAH17876
AAQ89060
AB161356
AK027417
AK074704
AK074988
AK075172
AL137067
ALG2
ALG2-202
ALG2-203
AY358697
BAB55099
BAC11150
BAC11337
BAC11449
BAD11905
BC017876
CCDS6739
CH471105
EAW58908
EAW58909
ENSG00000119523
ENSP00000326609
ENSP00000417764
ENST00000319033
ENST00000476832
EntrezGene:85365
GE79287
GO:0000033
GO:0003674
GO:0004378
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005737
GO:0005783
GO:0005789
GO:0005829
GO:0005856
GO:0005975
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
HGNC:23159
HPA041512
HPA041601
Hs.40919.1.S1_3p_at
ILMN_1722688
IPR001296
IPR027054
IPR028098
MIM:607905
MIM:607906
MIM:616228
NM_033087
NP_149078
PF00534
PF13439
PH_hs_0028866
TC09002699.hg
uc004azf.4
uc064utu.1
UPI0000039E65
UPI0000073E01
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 347 to 372 by VDPWSPLTTVSQGFCVSLTRCTSQKQ
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
RefSeq
OpenTargets
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein