Identity
HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
LGMD2N,LGMDR14,MDDGA2,MDDGB2,MDDGC2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 29954
MIM: 607439
HGNC: 19743
Ensembl: ENSG00000009830
Variants:
dbSNP: 29954
ClinVar: 29954
TCGA: ENSG00000009830
COSMIC: POMT2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36217604 | 2023 | Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy. | 0 |
| 36217604 | 2023 | Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy. | 0 |
| 34565739 | 2021 | POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy. | 0 |
| 34565739 | 2021 | POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy. | 0 |
| 29175898 | 2018 | Limb girdle muscular dystrophy due to mutations in POMT2. | 11 |
| 29175898 | 2018 | Limb girdle muscular dystrophy due to mutations in POMT2. | 11 |
| 28512129 | 2017 | Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2. | 23 |
| 28815891 | 2017 | Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. | 2 |
| 28980384 | 2017 | Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. | 2 |
| 28512129 | 2017 | Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2. | 23 |
| 28815891 | 2017 | Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. | 2 |
| 28980384 | 2017 | Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. | 2 |
| 24002165 | 2014 | Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. | 5 |
| 24002165 | 2014 | Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. | 5 |
| 21782786 | 2011 | Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2. | 7 |
Citation
Dessen P
POMT2 (protein O-mannosyltransferase 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72073/pomt2-(protein-o-mannosyltransferase-2)
