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POMT2 [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5615565
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Protein O-mannosyl-transferase 2 ecNumber2.4.1.109/ecNumber, POMT2_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with O-glycosylation of proteins (Homo sapiens)
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 (Homo sapiens)
Defective POMT1 does not transfer Man from Dol-P-Man to DAG1 (Homo sapiens)
POMT1 mutants:POMT2 [endoplasmic reticulum membrane] (Homo sapiens)
POMT2 [endoplasmic reticulum membrane] (Homo sapiens)
Metabolism of proteins (Homo sapiens)
Post-translational protein modification (Homo sapiens)
O-linked glycosylation (Homo sapiens)
POMT1:POMT2 transfers Man from Dol-P-Man to DAG1(30-653) (Homo sapiens)
POMT1:POMT2 [endoplasmic reticulum membrane] (Homo sapiens)
POMT2 [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9UKY4 POMT2
Gene Names
POMT2
Chain
chain:1-750
Reference Genes
BioGPS Gene:29954 POMT2
COSMIC (genes):POMT2 POMT2
CTD Gene:29954 POMT2
dbSNP Gene:29954 POMT2
ENSEMBL:ENSG00000009830.13 POMT2
HGNC:19743 POMT2
KEGG Gene (Homo sapiens):29954 POMT2
Monarch:29954 POMT2
NCBI Gene:29954 POMT2
OMIM:607439 POMT2
UCSC:Q9UKY4 POMT2
Reference Transcript
RefSeq:NM_013382.5 POMT2
Other Identifiers
0005360040
11729527_a_at
11729528_a_at
16795082
220632_PM_s_at
220632_s_at
225560_PM_at
225560_at
29954
3572983
3572984
3572986
3572987
3572991
3572993
3572994
3572995
3572997
3572998
3572999
3573004
3573005
3573008
3573010
3573011
3573013
3573014
3573015
3573016
3573019
3573022
3573024
3573025
47062_at
76739_at
76741_g_at
76743_at
7980358
A_24_P111134
GE62413
GO:0000030
GO:0004169
GO:0005622
GO:0005634
GO:0005654
GO:0005730
GO:0005737
GO:0005783
GO:0005789
GO:0005829
GO:0006486
GO:0006493
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0035269
GO:0036211
GO:0043226
GO:0046872
GO:0140096
GO:1901135
GO:1904100
HMNXSV003038351
Hs.132989.1.S2_3p_at
ILMN_1678805
PH_hs_0007985
TC14001342.hg
g7019494_3p_a_at
Participates
as a component of
POMT1 mutants:POMT2 [endoplasmic reticulum membrane] (Homo sapiens)
POMT1:POMT2 [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
POMT2 Y666C [endoplasmic reticulum membrane]
POMT2 V373F [endoplasmic reticulum membrane]
POMT2 I444_N445insLLWQ [endoplasmic reticulum membrane]
POMT2 T433* [endoplasmic reticulum membrane]
POMT2 I198N [endoplasmic reticulum membrane]
POMT2 R638* [endoplasmic reticulum membrane]
Inferred To
Pomt2 [endoplasmic reticulum membrane]
(Mus musculus)
Pomt2 [endoplasmic reticulum membrane]
(Rattus norvegicus)
pomt2 [endoplasmic reticulum membrane]
(Danio rerio)
pomt2 [endoplasmic reticulum membrane]
(Xenopus tropicalis)
POMT2 [endoplasmic reticulum membrane]
(Bos taurus)
POMT2 [endoplasmic reticulum membrane]
(Canis familiaris)
POMT2 [endoplasmic reticulum membrane]
(Gallus gallus)
POMT2 [endoplasmic reticulum membrane]
(Sus scrofa)
tw [endoplasmic reticulum membrane]
(Drosophila melanogaster)
Cross References
RefSeq
NP_037514.2
OpenTargets
ENSG00000009830
GeneCards
Q9UKY4
HPA
ENSG00000009830-POMT2
Ensembl
ENST00000556326
,
ENSG00000009830
,
ENSP00000261534
,
ENST00000261534
,
ENSP00000450630
PRO
Q9UKY4
Pharos - Targets
Q9UKY4
Orphanet
15123
HMDB Protein
HMDBP00947
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