PMM2 D188G

Stable Identifier
R-HSA-3781891
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Phosphomannomutase 2, PMM2_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
PMM2
Chain
initiator methionine:1, chain:2-246
Reference Transcript
Other Identifiers
0003290131
00051+5.4.2.8
00520+5.4.2.8
11733001_a_at
11733002_s_at
11748329_a_at
11748330_s_at
11748331_x_at
16815756
203201_at
2AMY
2Q4R
32028_at
3647505
3647506
3647508
3647509
3647510
3647514
3647515
3647516
3647533
3647534
3647535
3778888
3799330
40852
5373
63649
7993148
A0A0S2Z4J6
A_23_P432360
AAC51368
AAD45895
AAH08310
AC012173
AF157790
AF157791
AF157792
AF157793
AF157794
AF157795
AF157796
AK291537
AK300785
ALQ33723
BAF84226
BAH13346
BC008310
CCDS10536
CH471112
EAW85200
EAW85201
EAW85202
EAW85203
ENSG00000140650
ENSP00000268261
ENSP00000456774
ENST00000268261
ENST00000566604
EntrezGene:5373
g4557838_3p_at
GE79589
GO:0003674
GO:0004615
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005634
GO:0005737
GO:0005829
GO:0005975
GO:0006013
GO:0006464
GO:0006486
GO:0006487
GO:0006605
GO:0006810
GO:0008150
GO:0009058
GO:0009298
GO:0016853
GO:0034641
GO:0043025
GO:0043226
GO:0044281
GO:0045047
GO:0070062
H3BV34
HGNC:9115
HPA040852
HPA063649
ILMN_1785336
IPR005002
IPR006379
IPR023214
IPR036412
KU178265
MIM:212065
MIM:601785
NM_000303
NP_000294
PF03332
PH_hs_0023742
PMM2
PMM2-201
PMM2-212
TC16000149.hg
U85773
uc002czf.5
uc059qpf.1
UPI00000302B7
UPI0000EE6790
Participant Of
Other forms of this molecule
Modified Residues
Name
L-aspartic acid 188 replaced with glycine
Coordinate
188
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to a glycine.
A protein modification that effectively removes or replaces an L-aspartic acid.
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
RefSeq
ZINC - Substances
GeneCards
DOCK Blaster
ZINC target
PRO
BRENDA (Homo sapiens)
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
PDB