| Type | Description |
|---|---|
| Definition | solute carrier family 26 member 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:49:00 | Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. | 31880411 |
| 2020-02-08 10:53:00 | Molecular analysis revealed that patient I is heterozygous for two known pathogenic variants in SLC26A2, a splice site variant c.-26+2T > C and a missense variant c.1957T > A (p.Cys653Ser), while patient II is compound heterozygous for missense variants c.835C > T (p.Arg279Trp) and c.1535C > A (p.Thr512Lys) | 30423444 |
| 2019-09-14 10:50:00 | N-glycosylation plays three roles in the functional expression of SLC26 proteins: (1) to retain misfolded proteins in the endoplamic reticulum, (2) to stabilize the protein at the cell surface, and (3) to maintain the transport protein in a functional state. | 30462520 |
| 2019-03-02 11:44:00 | Data identified two novel mutations in SLC26A2 gene: c.824 T > C and c.1198C > T in two siblings multiple epiphyseal dysplasia 4 within a Chinese family. Both mutations were inherited from both parents, one mutation from each. | 29724173 |
| 2018-09-22 11:48:00 | Two heterozygous mutations in SLC26A2 mutations occur in a three-generational family with cases of multiple epiphyseal dysplasias. | 29024831 |
| Type | IDs |
|---|---|
| Synonymous | D5S1708, DTD, DTDST, EDM4, MST153, MSTP157 |
| Gene |
UniProtKB-ID:
S26A2_HUMAN
UniprotKB:
P50443
UniParc:
UPI000013DE3D
EMBL:
AK290358,
AK312596,
U14528,
BC059390,
CH471062,
BX640696,
AC008427
Ensembl:
ENSG00000155850
KO:
hsa:1836
|
| Nucleutide sequences |
EMBL-CDS:
CAE45819.1,
BAG35488.1,
EAW61755.1,
AAH59390.1,
AAA70081.1,
BAF83047.1
Ensembl_TRS:
ENST00000286298
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000286298
RefSeq:
NP_000103.2,
XP_016864680.1
|
| Others |
UniRef100:
UniRef100_P50443
UniRef90:
UniRef90_P50443
UniRef50:
UniRef50_P50443
UniGene:
Hs.302738
CCDS:
CCDS4300.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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