| Type | Description |
|---|---|
| Definition | solute carrier family 35 member A2 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:34:00 | [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation type]. | 32605344 |
| 2020-06-27 12:26:00 | Although normal glycosylation studies together with clinical variability and genetic results complicate the diagnosis of SLC35A2-CDG, the data indicate that the combination of these three elements can support the pathogenicity of mutations in SLC35A2. | 30746764 |
| 2020-03-21 10:36:00 | Data characterize 26 new variants in the single largest study involving SLC35A2-congenital disorders of glycosylation. These variants had normal transferrin glycosylation. The biochemical assay assess SLC35A2-dependent UDP-galactose transport activity in primary fibroblasts of the patients that seems to be directly correlated to the ratio of wild-type to mutant alleles. | 30817854 |
| 2019-08-17 12:23:00 | nonsynonymous variants in SCL35A2 were detected in the brains of 2 males with intractable epilepsy | 29679388 |
| 2019-02-23 11:59:00 | SLC35A2 missense mutation is associated with congenital disorder of glycosylation. | 29907092 |
| Type | IDs |
|---|---|
| Synonymous | CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL |
| Gene |
UniProtKB-ID:
S35A2_HUMAN,
A6NKM8_HUMAN,
B4DE15_HUMAN,
A6NFI1_HUMAN
UniprotKB:
P78381,
A6NKM8,
B4DE15,
A6NFI1
UniParc:
UPI000059DB12,
UPI0000E25D09,
UPI00017A6C35,
UPI0000137AEA,
UPI00000746BA,
UPI000002B68C,
UPI000059DB10,
UPI00017A6C40
EMBL:
D88146,
AK292816,
BC035747,
AB042425,
AF207550,
AC233300,
D84454,
AK293415,
AK293419,
CH471224,
AK298484,
AK290284
Ensembl:
ENSG00000102100
KO:
hsa:7355
|
| Nucleutide sequences |
EMBL-CDS:
BAA95615.1,
EAW50734.1,
BAF82973.1,
BAA12673.1,
BAA13545.1,
BAG56922.1,
AAH35747.1,
BAA95614.1,
BAG60694.1,
EAW50733.1,
BAF85505.1,
BAG56926.1
Ensembl_TRS:
ENST00000445167,
ENST00000452555,
ENST00000376521,
ENST00000247138,
ENST00000635589,
ENST00000635285,
ENST00000376515,
ENST00000616181,
ENST00000376529
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000489197,
ENSP00000402726,
ENSP00000416002,
ENSP00000365704,
ENSP00000489484,
ENSP00000247138,
ENSP00000365698,
ENSP00000478617,
ENSP00000365712
RefSeq:
NP_001269578.1,
NP_001269580.1,
NP_001269576.1,
NP_001269579.1,
NP_001269577.1,
NP_001027460.1,
NP_001035963.1,
NP_005651.1
|
| Others |
UniRef100:
UniRef100_A6NKM8,
UniRef100_A6NFI1,
UniRef100_B4DE15,
UniRef100_P78381
UniRef90:
UniRef90_A6NFI1,
UniRef90_P78381-3,
UniRef90_P78381
UniRef50:
UniRef50_P78381,
UniRef50_P78381-3,
UniRef50_A6NFI1
UniGene:
Hs.21899
CCDS:
CCDS65253.1,
CCDS43937.1,
CCDS35247.1,
CCDS14311.1,
CCDS65254.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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