| Type | Description |
|---|---|
| Definition | xylosyltransferase 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:31:00 | Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis. | 31973761 |
| 2020-08-01 12:27:00 | HEK293 cells lacking both XT-isoforms are not viable | 31677793 |
| 2020-02-08 10:52:00 | We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. A novel XYLT2 missense mutation was detected in a region evolutionary conserved across the species | 30496831 |
| 2019-10-05 11:43:00 | Using DNA from affected members of the same 2 families, we performed whole exome sequencing, which revealed 2 novel homozygous missense variants (c.1159C > T, p.Arg387Trp) and (c.2548G > C, p.Asp850His). Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene | 29136277 |
| 2017-12-23 12:27:00 | mutations in the XYLT2 gene result in a variable phenotype dominated by spinal osteoporosis, cataract, and hearing loss. | 26987875 |
| Type | IDs |
|---|---|
| Synonymous | PXYLT2, SOS, XT-II, XT2, xylT-II |
| Gene |
UniProtKB-ID:
XYLT2_HUMAN,
B4DT06_HUMAN
UniprotKB:
Q9H1B5,
B4DT06
UniParc:
UPI0000F0A589,
UPI000013C536,
UPI00017A7A9F
EMBL:
BC052262,
AC015909,
AK299999,
AY358090,
AJ277442
Ensembl:
ENSG00000015532
KO:
hsa:64132
|
| Nucleutide sequences |
EMBL-CDS:
AAQ88457.1,
AAH52262.2,
CAC16788.1,
BAG61818.1
Gene_ORFName:
UNQ3058/PRO9878
Ensembl_TRS:
ENST00000017003,
ENST00000507602
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000017003,
ENSP00000426501
RefSeq:
XP_005257629.1,
NP_071450.2
|
| Others |
UniRef100:
UniRef100_B4DT06,
UniRef100_Q9H1B5
UniRef90:
UniRef90_Q9H1B5,
UniRef90_A0A2R9CC74
UniRef50:
UniRef50_Q9H1B5,
UniRef50_A0A2R9CC74
UniGene:
Hs.463416
CCDS:
CCDS11563.1
|
| {{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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