POMT2 I444_N445insLLWQ [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5617085
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Protein O-mannosyl-transferase 2 ecNumber2.4.1.109/ecNumber, POMT2_HUMAN
Icon
POMT2 I444_N445insLLWQ [endoplasmic reticulum membrane] icon
POMT2 I444_N445insLLWQ [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
19138766 POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

Quijano-Roy, S, Endo, T, Vuillaumier-Barrot, S, Clarke, N, Bouchet, C, Taratuto, AL, Yanagisawa, A, Rodriguez, D, Romero, NB, Odent, S, Seta, N, Guicheney, P, Osawa, M

Eur J Med Genet 2009
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
Monarch:29954 POMT2
NCBI Gene:29954 POMT2
OMIM:607439 POMT2
UCSC:Q9UKY4 POMT2
Reference Transcript
Other Identifiers
11729527_a_at
11729528_a_at
16795082
220632_PM_s_at
220632_s_at
225560_PM_at
225560_at
239535_PM_at
239535_at
29954
3572983
3572984
3572985
3572986
3572987
3572988
3572989
3572990
3572991
3572992
3572993
3572994
3572995
3572996
3572997
3572998
3572999
3573000
3573001
3573002
3573003
3573004
3573005
3573006
3573008
3573009
3573010
3573011
3573012
3573013
3573014
3573015
3573016
3573017
3573018
3573019
3573020
3573022
3573023
3573024
3573025
47062_at
76739_at
76741_g_at
76743_at
7980358
83165_at
A_24_P111134
GE62413
GO:0000030
GO:0003824
GO:0004169
GO:0005654
GO:0005730
GO:0005783
GO:0005789
GO:0005829
GO:0006486
GO:0006493
GO:0006954
GO:0016020
GO:0016740
GO:0016757
GO:0021542
GO:0030198
GO:0035269
GO:0043226
GO:0046872
GO:0048856
GO:0071711
GO:0140096
GO:0150103
GO:1904100
HMNXSV003038351
Hs.132989.1.S2_3p_at
Hs.149879.0.A1_3p_at
ILMN_1678805
PH_hs_0007985
TC14001342.hg
g7019494_3p_a_at
Participates
as a member of
Other forms of this molecule
POMT2 [endoplasmic reticulum membrane]
POMT2 Y666C [endoplasmic reticulum membrane]
POMT2 V373F [endoplasmic reticulum membrane]
POMT2 T433* [endoplasmic reticulum membrane]
POMT2 I198N [endoplasmic reticulum membrane]
POMT2 R638* [endoplasmic reticulum membrane]
Modified Residues
Name
Replacement of residues 444 to 445 by ILLWQN
Disease
Cross References
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
Orphanet
HMDB Protein
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P37268 FDFT1  1 0.527 2
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