| Type | Description |
|---|---|
| Definition | membrane bound transcription factor peptidase, site 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-04 13:04:00 | MBTPS2 mutation is associated with Retinal venous tortuosity. | 30589367 |
| 2019-12-14 11:58:00 | Study reports a novel missense mutation c.638C>T (p.Ser213Leu) in MBTPS2 in a large Chinese family with keratosis follicularis spinulosa decalvans. | 29951998 |
| 2019-08-31 10:27:00 | Study reports a three-generation Chinese pedigree with a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome caused by a novel hemizygous missense mutation c.1494G>T (p.Leu498Phe) in exon 11 of MBTPS2. | 30294811 |
| 2018-08-25 12:10:00 | MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. | 27380894 |
| 2018-07-07 10:03:00 | This study identified a direct regulatory effect of MBTPS2 on TRPV3 which can partially contribute to the overlapping clinical features of IFAP and Olmsted syndromes under a common signaling pathway. | 28717930 |
| Type | IDs |
|---|---|
| Synonymous | BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P |
| Gene |
UniProtKB-ID:
MBTP2_HUMAN
UniprotKB:
O43462
UniParc:
UPI000012F5A0
EMBL:
U72788,
AF019612,
U73479
Ensembl:
ENSG00000012174
KO:
hsa:51360
|
| Nucleutide sequences |
EMBL-CDS:
AAD08631.1,
AAD08632.1,
AAC51937.1
Ensembl_TRS:
ENST00000379484
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000368798
RefSeq:
NP_056968.1
|
| Others |
UniRef100:
UniRef100_O43462
UniRef90:
UniRef90_O43462
UniRef50:
UniRef50_O43462
UniGene:
Hs.443490
CCDS:
CCDS14201.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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