| Type | Description |
|---|---|
| Definition | sphingomyelin synthase 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 13:01:00 | Chlamydia trachomatis-infected human cells convert ceramide to sphingomyelin without sphingomyelin synthases 1 and 2. | 31596951 |
| 2020-08-01 14:01:00 | SGMS2-dependent signaling was investigated in human monocyte-derived macrophages of nonsmokers and human bronchial epithelial (HBE) cells isolated from healthy nonsmokers and subjects with COPD. Reduced SGMS2 expression was seen in HBE cells isolated from subjects with COPD. SGMS2 overexpression reduced the production of several matrix metalloproteinases in HBE cells and monocyte-derived macrophages. | 31517509 |
| 2020-07-04 11:16:00 | Study in 6 families with rare skeletal phenotypes and osteoporosis identified a heterozygous variant in SGMS2, a gene prominently expressed in cortical bone and encoding the plasma membrane-resident sphingomyelin synthase SMS2. Four unrelated families shared the same nonsense variant, c.148C>T (p.Arg50*), whereas the other families had a missense variant, c.185T>G (p.Ile62Ser) or c.191T>G (p.Met64Arg). | 30779713 |
| 2020-04-11 12:38:00 | SGMS2 increased the expression of TGF-beta1 by upregulating ceramide, which subsequently activated the TGF-beta/Smad signalling pathway and promoted epithelial-to-mesenchymal transition in breast cancer cells, thus increasing the migration and invasiveness of breast cancer cells. | 30770781 |
| 2019-12-07 11:49:00 | our results demonstrate that SMS2 can activate the Wnt/beta-catenin pathway and promote intracellular cholesterol accumulation, both of which can contribute to the induction of ER stress and finally lead to ED. | 31212751 |
| Type | IDs |
|---|---|
| Synonymous | SMS2 |
| Gene |
UniProtKB-ID:
SMS2_HUMAN,
A0A024RDH4_HUMAN
UniprotKB:
Q8NHU3,
A0A024RDH4
UniParc:
UPI000000D9A6
EMBL:
AF452717,
CH471057,
BC041369,
AC096564,
BC028705,
AK314049,
AK290344
Ensembl:
ENSG00000164023
KO:
hsa:166929
|
| Nucleutide sequences |
EMBL-CDS:
AAH41369.1,
AAP13352.1,
AAH28705.1,
EAX06211.1,
BAG36758.1,
BAF83033.1,
EAX06212.1,
EAX06213.1
Gene_ORFName:
hCG_2044070
Ensembl_TRS:
ENST00000394684,
ENST00000394686,
ENST00000359079
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000378178,
ENSP00000378176,
ENSP00000351981
RefSeq:
NP_001362836.1,
NP_001362837.1,
NP_001129729.1,
NP_001362835.1,
NP_001362834.1,
NP_001362839.1,
XP_011530003.1,
NP_689834.1,
NP_001129730.1,
XP_011530001.1,
NP_001362840.1
|
| Others |
UniRef100:
UniRef100_Q8NHU3
UniRef90:
UniRef90_Q8NHU3
UniRef50:
UniRef50_Q8NHU3
UniGene:
Hs.595423
CCDS:
CCDS3677.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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