| Type | Description |
|---|---|
| Definition | solute carrier family 16 member 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-07 10:24:00 | Mutations across the entire SLC16A2 gene, including large deletions, missense mutations, and splicing mutations, overlap with the known genetic spectrum in Allan-Herndon-Dudley syndrome. | 31410843 |
| 2019-06-29 10:20:00 | Allan-Herndon-Dudley syndrome is an X-linked mental retardation caused by SLC16A2 gene mutations | 30098239 |
| 2019-05-18 10:37:00 | Data indicate that p.Arg445Ser and p.Pro561del mutants preserve residual function, whereas p.Asp498Asn, p.Gly276Arg, p.Gly196Glu, p.Gly401Arg, p.Gly312Arg, p.Arg355Profs*64, and p.Tyr550Serfs*17 mutants lack function. These findings suggest that the mutations in MCT8 cause loss of function by reducing protein expression, impairing trafficking of protein to plasma membrane, and disrupting substrate channel. | 30369548 |
| 2019-04-06 10:16:00 | he main clinical manifestations of Allan-Herndon-Dudley syndrome are severe global developmental retardation, hypotonia, spastic paraplegia, abnormal serum levels of thyroid hormone and delayed brain myelination. SLC16A2 c. 431-1 (IVS1) G > C mutation is accountable for this disease. | 30392207 |
| 2018-11-03 10:33:00 | MCT8 and TSHR form heteromers. | 29290039 |
| Type | IDs |
|---|---|
| Synonymous | AHDS, DXS128, DXS128E, MCT 7, MCT 8, MCT7, MCT8, MRX22, XPCT |
| Gene |
UniProtKB-ID:
MOT8_HUMAN
UniprotKB:
P36021
UniParc:
UPI000019C3D5
EMBL:
AC004073,
AB085789,
U05318,
U05316,
U05315,
U05320,
U05319,
AL157934,
U05317,
U05321
Ensembl:
ENSG00000147100
KO:
hsa:6567
|
| Nucleutide sequences |
EMBL-CDS:
AAB60374.1,
BAC76827.1,
AAB60375.1
Ensembl_TRS:
ENST00000587091
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000465734
RefSeq:
NP_006508.2
|
| Others |
UniRef100:
UniRef100_P36021
UniRef90:
UniRef90_P36021
UniRef50:
UniRef50_P36021
UniGene:
Hs.75317
CCDS:
CCDS14426.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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