| Type | Description |
|---|---|
| Definition | protein O-mannosyltransferase 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-10-12 12:02:00 | The study expands the mutational spectrum for Limb-girdle Muscular Dystrophy type2N, with the description of 11 novel POMT2 mutations in the association with LGMD2N. | 29175898 |
| 2018-06-09 10:56:00 | Muscle biopsy revealed absent alpha-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy | 28980384 |
| 2018-02-10 11:09:00 | POMT2 missense mutation is associated with Cystic kidneys in fetal Walker-Warburg syndrome. | 28815891 |
| 2017-07-15 10:17:00 | O-mannosylation of cadherins and protocadherins does not require POMT1 and/or POMT2 in contrast to alpha-dystroglycan, and moreover, the O-Man glycans on cadherins are not elongated. | 28512129 |
| 2014-11-22 11:45:00 | Our report is the first to document an association between POMT2 mutations and aortopathy with concomitant depressed left ventricular systolic function. | 24002165 |
| Type | IDs |
|---|---|
| Synonymous | LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2 |
| Gene |
UniProtKB-ID:
POMT2_HUMAN
UniprotKB:
Q9UKY4
UniParc:
UPI00020F7A5E,
UPI0000070587
EMBL:
AL353956,
BX248027,
BC031651,
AC007954,
AF105020,
AY090480,
AC007375
Ensembl:
ENSG00000009830
KO:
hsa:29954
|
| Nucleutide sequences |
EMBL-CDS:
AAF14118.1,
AAM12046.1,
AAH31651.1,
CAD62348.1,
AAF62558.1,
AAF63184.1,
CAB89256.1
Ensembl_TRS:
ENST00000261534,
ENST00000556326
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000450630,
ENSP00000261534
RefSeq:
XP_011534978.1,
XP_011534979.1,
XP_011534977.1,
NP_037514.2
|
| Others |
UniRef100:
UniRef100_Q9UKY4
UniRef90:
UniRef90_Q9UKY4
UniRef50:
UniRef50_Q9UKY4
UniGene:
Hs.132989
CCDS:
CCDS9857.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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