| Type | Description |
|---|---|
| Definition | serine palmitoyltransferase long chain base subunit 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:48:00 | A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. | 30955194 |
| 2020-12-12 13:29:00 | Increased expression of serine palmitoyl transferase and ORMDL3 polymorphism are associated with eosinophilic inflammation and airflow limitation in aspirin-exacerbated respiratory disease. | 33031402 |
| 2019-10-26 11:13:00 | Elevated levels of atypical deoxysphingolipids, caused by variant SPTLC1 or SPTLC2 or by low serine levels, were risk factors for macular telangiectasia type 2, as well as for peripheral neuropathy. | 31509666 |
| 2019-10-19 10:31:00 | HSAN-I-associated mutations in serine palmitoyltransferase subunit SPTLC2 dampened human T cell responses. SPTLC2 underpins protective immunity by translating extracellular stimuli into intracellular anabolic signals and antagonizes endoplasmic reticulum stress to promote T cell metabolic fitness. | 30952607 |
| 2016-12-31 11:52:00 | 2 families had late-onset autosomal dominant HSAN1C caused by a new variant in SPTLC2, c.547C>T, p.(Arg183Trp). The variant changed a conserved amino acid. | 26573920 |
| Type | IDs |
|---|---|
| Synonymous | HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a |
| Gene |
UniProtKB-ID:
SPTC2_HUMAN,
A0A024R6H1_HUMAN
UniprotKB:
O15270,
A0A024R6H1
UniParc:
UPI0000000C6B
EMBL:
CH471061,
AB011098,
Y08686,
AF111168,
BC005123,
U15555
Ensembl:
ENSG00000100596
KO:
hsa:9517
|
| Nucleutide sequences |
EMBL-CDS:
AAD09621.1,
CAA69942.1,
AAH05123.1,
BAA25452.2,
AAC50871.1,
EAW81299.1,
EAW81297.1
Gene_ORFName:
hCG_22264
Ensembl_TRS:
ENST00000216484
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000216484
RefSeq:
XP_011535686.1,
NP_004854.1
|
| Others |
UniRef100:
UniRef100_O15270
UniRef90:
UniRef90_O15270
UniRef50:
UniRef50_O15270
UniGene:
Hs.435661
CCDS:
CCDS9865.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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