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PMM2 G117R [cytosol]
Stable Identifier
R-HSA-3781863
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Phosphomannomutase 2, PMM2_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective PMM2 causes PMM2-CDG (Homo sapiens)
Defective PMM2 does not isomerise Man6P to Man1P (Homo sapiens)
PMM2 mutants [cytosol] (Homo sapiens)
PMM2 G117R [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:O15305 PMM2
Gene Names
PMM2
Chain
initiator methionine:, chain:2-246
Reference Genes
BioGPS Gene:5373 PMM2
COSMIC (genes):PMM2 PMM2
CTD Gene:5373 PMM2
dbSNP Gene:5373 PMM2
ENSEMBL:ENSG00000140650 PMM2
ENSEMBL_homo_sapiens_GENE:ENSG00000140650.13 PMM2
HGNC:9115 PMM2
KEGG Gene (Homo sapiens):5373 PMM2
Monarch:5373 PMM2
NCBI Gene:5373 PMM2
OMIM:601785 PMM2
UCSC:O15305 PMM2
Reference Transcript
RefSeq:NM_000303.2 PMM2
Other Identifiers
11733001_a_at
11733002_s_at
11748329_a_at
11748330_s_at
11748331_x_at
16815756
203201_PM_at
203201_at
32028_at
3647505
3647506
3647508
3647509
3647510
3647514
3647515
3647516
3647533
3647534
3647535
3647542
3647543
3647544
3647550
3778888
3799330
5373
7993148
A_14_P111059
A_23_P432360
GE79589
GE86711
GO:0003824
GO:0004615
GO:0005515
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005975
GO:0006013
GO:0006486
GO:0006487
GO:0009298
GO:0016853
GO:0036211
GO:0043025
GO:0043226
GO:0046872
GO:0055086
GO:1901135
HMNXSV003035889
HMNXSV003043303
ILMN_1785336
PH_hs_0023742
TC16000149.hg
g4557838_3p_at
Participates
as a member of
PMM2 mutants [cytosol] (Homo sapiens)
Other forms of this molecule
PMM2 R141H [cytosol]
PMM2 [cytosol]
PMM2 T237R [cytosol]
PMM2 D65Y [cytosol]
PMM2 D188G [cytosol]
Modified Residues
Name
glycine 117 replaced with L-arginine
Coordinate
117
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
RefSeq
NP_000294.1
OpenTargets
ENSG00000140650
ZINC - Substances
PMM2_HUMAN
ZINC target
O15305
PRO
O15305
PDB
2Q4R
,
2AMY
,
7O5Z
,
7O1B
,
7O0C
,
7O4G
,
7O58
IntEnz
5.4.2.8
HPA
ENSG00000140650-PMM2
GeneCards
O15305
Ensembl
ENSP00000456774
,
ENSP00000268261
,
ENSG00000140650
,
ENST00000566604
,
ENSP00000507262
,
ENST00000683274
,
ENST00000268261
Pharos - Targets
O15305
ZINC - Predictions - Purchasable
PMM2_HUMAN
Orphanet
15113
HMDB Protein
HMDBP01606
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