| Type | Description |
|---|---|
| Definition | protein-O-mannose kinase |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:26:00 | Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. | 31833209 |
| 2020-08-29 12:49:00 | Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases. | 32707033 |
| 2015-06-20 12:00:00 | POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. | 24925318 |
| 2014-11-22 11:15:00 | Homozygous truncating mutations in POMK lead to congenital muscular dystrophies with secondary merosin deficiency, hypomyelination and intellectual disability. | 24556084 |
| 2013-08-31 10:39:00 | These findings suggest how mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy. | 23929950 |
| Type | IDs |
|---|---|
| Synonymous | MDDGA12, MDDGC12, SGK196 |
| Gene |
UniProtKB-ID:
SG196_HUMAN
UniprotKB:
Q9H5K3
UniParc:
UPI000003C970
EMBL:
BC113703,
AC113191,
BC101548,
AK027009
Ensembl:
ENSG00000185900
KO:
hsa:84197
|
| Nucleutide sequences |
EMBL-CDS:
AAI01549.1,
BAB15623.1,
AAI13704.1
Ensembl_TRS:
ENST00000614426,
ENST00000331373
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000478821,
ENSP00000331258
RefSeq:
NP_001264900.1,
NP_115613.1
|
| Others |
UniRef100:
UniRef100_Q9H5K3
UniRef90:
UniRef90_Q9H5K3
UniRef50:
UniRef50_Q9H5K3
UniGene:
Hs.491646
CCDS:
CCDS6141.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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