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DPM2 Y23C [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4719378
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
dolichyl-phosphate mannosyltransferase polypeptide 2
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 DPM2 causes DPM2-CDG (Homo sapiens)
Defective DPM2 does not transfer mannose to DOLP to form DOLPman (Homo sapiens)
DPM1:DPM2 Y23C:DPM3 [endoplasmic reticulum membrane] (Homo sapiens)
DPM2 Y23C [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O94777 DPM2
Gene Names
DPM2, My026
Chain
initiator methionine:, chain:2-84
Reference Genes
BioGPS Gene:8818 DPM2
COSMIC (genes):DPM2 DPM2
CTD Gene:8818 DPM2
dbSNP Gene:8818 DPM2
ENSEMBL:ENSG00000136908 DPM2
HGNC:3006 DPM2
KEGG:hsa:8818 DPM2
Monarch:8818 DPM2
NCBI Gene:8818 DPM2
OMIM:603564 DPM2
UCSC:O94777 DPM2
Reference Transcript
RefSeq:NM_003863.3 DPM2
Other Identifiers
11717200_a_at
17098688
209391_PM_at
209391_at
3226238
3226239
3226240
3226241
3226242
3226243
3226244
3226245
3226246
3226247
3226248
3226249
3226250
38725_s_at
38726_at
8164336
8818
A_23_P217079
A_33_P3267543
GE81329
GO:0000506
GO:0005515
GO:0005783
GO:0005789
GO:0006486
GO:0006506
GO:0006629
GO:0008047
GO:0016020
GO:0019348
GO:0030234
GO:0031647
GO:0033185
GO:0035269
GO:0043226
GO:0098772
GO:1901135
HMNXSV003049257
ILMN_1732049
ILMN_1804618
PH_hs_0006026
TC09001617.hg
g12001993_3p_at
g12001993_3p_x_at
Participates
as a component of
DPM1:DPM2 Y23C:DPM3 [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
DPM2 [endoplasmic reticulum membrane]
Modified Residues
Name
L-tyrosine 23 replaced with L-cysteine
Coordinate
23
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
ENSEMBL
ENST00000314392
,
ENSG00000136908
,
ENSP00000322181
OpenTargets
ENSG00000136908
GeneCards
DPM2
HPA
ENSG00000136908-DPM2
PRO
O94777
Pharos - Targets
O94777
Orphanet
DPM2
HMDB Protein
HMDBP11713
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