| Type | Description |
|---|---|
| Definition | golgi SNAP receptor complex member 2 |
| Date | Results | Publications |
|---|---|---|
| 2018-11-03 11:50:00 | Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. | 29855340 |
| 2018-07-28 10:13:00 | Molecular dynamics (MD) simulations showed that the hydrophobic core, which triggers SNARE complex formation, is compromised due to the glycine-to-tryptophan substitution in both GOSR2 and Bos1. | 28982678 |
| 2018-05-26 11:11:00 | Mutations in GOSR2 reveal stringent secretory pathway demands of dendritic growth and synaptic integrity. | 28978487 |
| 2017-03-18 11:15:00 | review of the phenotype/genotype of GOSR2-associated progressive myoclonus epilepsy [review] | 27618868 |
| 2016-10-22 11:19:00 | The SNAREs(Soluble N-ethylmaleimide-sensitive factor attachment protein receptors), that regulate both the biogenesis and secretion of multiple lysosome-related organelles(LROs). | 26760525 |
| Type | IDs |
|---|---|
| Synonymous | Bos1, EPM6, GS27 |
| Gene |
UniProtKB-ID:
GOSR2_HUMAN,
A0A1W2PRL0_HUMAN,
A0A1W2PQE0_HUMAN,
A0A1W2PQM3_HUMAN,
I3NI02_HUMAN,
A0A1W2PR02_HUMAN
UniprotKB:
O14653,
A0A1W2PRL0,
A0A1W2PQE0,
A0A1W2PQM3,
I3NI02,
A0A1W2PR02
UniParc:
UPI000012BB68,
UPI0003EAE8CF,
UPI000007015C,
UPI0000489DAB,
UPI000387D6C2,
UPI0000E59FE4,
UPI000002AACF,
UPI0000E59FE3
EMBL:
CH471231,
AC005670,
AF007548,
AK290890,
AF229796,
BC034762,
BC009710
Ensembl:
ENSG00000108433
KO:
hsa:9570
|
| Nucleutide sequences |
EMBL-CDS:
EAW57695.1,
AAK01855.1,
AAB82651.1,
EAW57700.1,
BAF83579.1,
EAW57699.1,
AAH34762.1,
AAH09710.1,
EAW57694.1,
EAW57696.1
Gene_ORFName:
hCG_1993582
Ensembl_TRS:
ENST00000640621,
ENST00000225567,
ENST00000640051,
ENST00000638216,
ENST00000640443,
ENST00000393456,
ENST00000640068,
ENST00000638189,
ENST00000573224,
ENST00000640608
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000225567,
ENSP00000492830,
ENSP00000492751,
ENSP00000492548,
ENSP00000491961,
ENSP00000491682,
ENSP00000377101,
ENSP00000491785,
ENSP00000461784,
ENSP00000491979
RefSeq:
XP_016880884.1,
NP_004278.2,
XP_016880875.1,
NP_001340044.1,
XP_016880867.1,
XP_016880870.1,
NP_001012529.1,
XP_011523803.1,
XP_016880871.1,
NP_001340045.1,
NP_001350780.1,
XP_016880883.1,
NP_001308063.1,
XP_016880876.1,
XP_016880869.1,
XP_006722253.1,
NP_001340043.1,
XP_011523804.1,
XP_016880868.1,
XP_016880872.1,
NP_473363.1,
XP_016880878.1,
NP_001317181.1,
NP_001308062.1,
XP_016880881.1
|
| Others |
UniRef100:
UniRef100_I3NI02,
UniRef100_A0A1W2PQM3,
UniRef100_A0A1W2PR02,
UniRef100_O14653
UniRef90:
UniRef90_O14653,
UniRef90_A0A1W2PR02
UniRef50:
UniRef50_A0A1S3WKB4,
UniRef50_O14653
UniGene:
Hs.463278
CCDS:
CCDS11507.1,
CCDS45719.1,
CCDS42355.1
|
| {{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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