POMT2 I198N [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5617111
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Protein O-mannosyl-transferase 2 ecNumber2.4.1.109/ecNumber, POMT2_HUMAN
Locations in the PathwayBrowser
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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 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
Other Identifiers
0005360040
11729527_a_at
11729528_a_at
16795082
220632_s_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:0003674
GO:0004169
GO:0005575
GO:0005622
GO:0005737
GO:0005783
GO:0005789
GO:0006464
GO:0006486
GO:0006493
GO:0006950
GO:0008150
GO:0009056
GO:0009058
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0035269
GO:0043167
GO:0043226
GO:0046872
GO:0071712
GO:1904100
Hs.132989.1.S2_3p_at
ILMN_1678805
PH_hs_0007985
TC14001342.hg
g7019494_3p_a_at
Participant Of
hasMember
Other forms of this molecule
POMT2 [endoplasmic reticulum membrane]
POMT2 Y666C [endoplasmic reticulum membrane]
POMT2 V373F [endoplasmic reticulum membrane]
POMT2 I444_N445insLLWQ [endoplasmic reticulum membrane]
POMT2 T433* [endoplasmic reticulum membrane]
POMT2 R638* [endoplasmic reticulum membrane]
Modified Residues
Name
L-isoleucine 198 replaced with L-asparagine
Coordinate
198
PsiMod
L-isoleucine removal [MOD:01640]
A protein modification that effectively removes or replaces an L-isoleucine.
L-asparagine residue [MOD:00012]
A protein modification that effectively converts a source amino acid residue to an L-asparagine.
Disease
Name Identifier Synonyms
muscular dystrophy-dystroglycanopathy 0050588
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Orphanet
HMDB Protein
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