| Type | Description |
|---|---|
| Definition | exostosin glycosyltransferase 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-19 13:40:00 | Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing. | 32293802 |
| 2020-02-15 10:16:00 | AREXT2 (autosomal recessive EXT2-related syndrome) can be considered as a multiorgan Congenital Disorder of Glycosylation caused by a significant, but non-lethal, decrease in EXT2 expression, thereby affecting the synthesis of the heparan sulfate proteoglycans, which is relevant in many physiological processes. | 30288735 |
| 2020-02-01 10:57:00 | a novel frameshift mutation in EXT2 is identified in a fourth-generation Korean family with multiple osteochondromas | 30730578 |
| 2019-09-28 12:03:00 | a heterozygous missense variation in the exon 1 and a heterozygous frameshift variation in exon 6 of EXT1 are associated with hereditary multiple exostosis | 31400121 |
| 2019-09-07 12:15:00 | identification of mutations in EXT1 and EXT2 in Cypriot patients with a clinical diagnosis of hereditary multiple osteochondromas (HMO); five patients, representing the first report of genetic screening of HMO affected individuals in the Cypriot population are described | 26690531 |
| Type | IDs |
|---|---|
| Synonymous | SOTV, SSMS |
| Gene |
UniProtKB-ID:
EXT2_HUMAN,
D3DR24_HUMAN
UniprotKB:
Q93063,
D3DR24
UniParc:
UPI0000EE3A5E,
UPI0000EE3A5D,
UPI0000EE3A5C,
UPI000012A3A5
EMBL:
U67364,
U67363,
U67356,
U72263,
U62740,
U64511,
U67361,
AC068457,
U67360,
AC103854,
BC010058,
U67366,
U67362,
U67357,
U67365,
U67367,
AK312375,
BX648142,
U67358,
CH471064,
AC134775,
U67368
Ensembl:
ENSG00000151348
KO:
hsa:2132
|
| Nucleutide sequences |
EMBL-CDS:
BAG35293.1,
AAC50764.1,
EAW68068.1,
EAW68070.1,
AAC51219.1,
AAB62718.1,
AAB07008.1,
AAH10058.1,
EAW68071.1,
EAW68069.1,
EAW68067.1
Gene_ORFName:
hCG_1811183
Ensembl_TRS:
ENST00000533608,
ENST00000358681,
ENST00000395673,
ENST00000343631
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000342656,
ENSP00000431173,
ENSP00000379032,
ENSP00000351509
RefSeq:
NP_001171554.1,
XP_011518253.1,
NP_000392.3,
XP_024304151.1,
NP_997005.1,
XP_011518252.1
|
| Others |
UniRef100:
UniRef100_Q93063
UniRef90:
UniRef90_Q93063
UniRef50:
UniRef50_Q93063
UniGene:
Hs.368404
CCDS:
CCDS53618.1,
CCDS7908.1,
CCDS53619.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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