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LINC00839 and POMT2
Data Source:
BioGRID
(unspecified method)
LINC00839
POMT2
Description
long intergenic non-protein coding RNA 839
protein O-mannosyltransferase 2
Image
No pdb structure
No pdb structure
GO Annotations
Cellular Component
Nucleoplasm
Nucleolus
Endoplasmic Reticulum Membrane
Cytosol
Integral Component Of Membrane
Molecular Function
Mannosyltransferase Activity
Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity
Metal Ion Binding
Biological Process
Protein O-linked Glycosylation
Protein O-linked Mannosylation
ER-associated Misfolded Protein Catabolic Process
Positive Regulation Of Protein O-linked Glycosylation
Pathways
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
O-linked glycosylation
Drugs
Diseases
Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D)
Limb-girdle muscular dystrophy (LGMD)
GWAS
Interacting Genes
82 interacting genes:
ADAMTS15
AKAP13
ALDH16A1
APOL3
BFSP1
CALM1
CC2D1B
CCDC168
CCDC93
CDC16
CEP192
CEP295NL
CHPF
CIZ1
CLGN
CLPTM1
COPB1
DNAH10
DPEP3
EFL1
EID2
EMX1
FAAP100
FAM13B
FBXL5
HAPLN4
IQCN
IRX4
JAKMIP2
KLK14
KRT1
KRT6B
L1CAM
MEX3A
MEX3B
MEX3C
MEX3D
MICAL2
MYO7A
NDUFA2
NOC4L
NOTCH3
NVL
OS9
P4HB
PABPN1
PALM3
PARP6
PHACTR1
PKD1L2
PLOD3
PNPLA3
POMT2
PRSS1
PRSS3
PTBP1
PTEN
PTPRA
QSOX2
RAPGEF6
RIF1
RPLP2
RPTOR
RYR2
SEMA4D
SEPTIN12
SEPTIN9
SERHL2
SLC7A14
SOWAHB
SREBF2
SYNE1
SYNE3
TAS1R3
TCF24
TMC4
TRO
UBE2S
VANGL1
YAP1
YIPF1
ZFPL1
3 interacting genes:
GLP1R
LINC00839
POMT1
Entrez ID
84856
29954
HPRD ID
17516
09592
Ensembl ID
ENSG00000185904
ENSG00000009830
Uniprot IDs
Q9UKY4
PDB IDs
Enriched GO Terms of Interacting Partners
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Tagcloud (Difference)
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Tagcloud (Intersection)
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