SLC16A2
entrez
6567
canonical
uniprot
P36021
canonical
ensembl
ENSG00000147100
resolver
ensp
ENSP00000465734
resolver
enst
ENST00000587091
resolver
genesymbol
SLC16A2
resolver
genesymbol_syn
MCT7
resolver
genesymbol_syn
MCT8
resolver
genesymbol_syn
XPCT
resolver
hgnc
HGNC:10923
resolver
uniprot
Q7Z797
resolver
uniprot_entry
MOT8_HUMAN
resolver
uniprot_sec
Q7Z797
resolver
amino_acid_sequence
MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIGAVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI
uniprot
proteins
disease_involvement
DISEASE: Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]: Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects. {ECO:0000269|PubMed:14661163, ECO:0000269|PubMed:15488219, ECO:0000269|PubMed:15889350, ECO:0000269|PubMed:18636565, ECO:0000269|PubMed:23550058, ECO:0000269|PubMed:25380603, ECO:0000269|PubMed:25527620, ECO:0000269|PubMed:26426690, ECO:0000269|PubMed:27805744, ECO:0000269|Ref.10}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) (PubMed:16887882, PubMed:18337592, PubMed:20628049, PubMed:23550058, PubMed:27805744, PubMed:31436139, PubMed:26426690, PubMed:38661522, PubMed:40140416, PubMed:40368961, PubMed:40680733). Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) (PubMed:28526555). Mediates the efflux of 3,5-diiodo-L-tyrosine (DIT) and 3-iodo-L-tyrosine (MIT) (PubMed:38661522). {ECO:0000269|PubMed:16887882, ECO:0000269|PubMed:18337592, ECO:0000269|PubMed:20628049, ECO:0000269|PubMed:23550058, ECO:0000269|PubMed:26426690, ECO:0000269|PubMed:27805744, ECO:0000269|PubMed:28526555, ECO:0000269|PubMed:31436139, ECO:0000269|PubMed:38661522, ECO:0000269|PubMed:40140416, ECO:0000269|PubMed:40368961, ECO:0000269|PubMed:40680733, ECO:0000305|PubMed:18636565}.
uniprot
proteins
mass_dalton
59511
uniprot
proteins
mutagenesis
MUTAGEN 115; /note="F->A: Reduced T3 and T4 uptake."; /evidence="ECO:0000269|PubMed:40140416, ECO:0000269|PubMed:40368961"; MUTAGEN 118; /note="H->A: Reduction of thyroid hormone (TH) transport."; /evidence="ECO:0000269|PubMed:23610131"; MUTAGEN 118; /note="H->Q: Does not alter kinetic characteristics of thyroid hormone (TH) transport."; /evidence="ECO:0000269|PubMed:31436139"; MUTAGEN 119; /note="N->A: Significant reduction in T4 uptake."; /evidence="ECO:0000269|PubMed:40368961"; MUTAGEN 119; /note="N->K: Does not affect localization to the cell membrane. Loss of T3 and T4 uptake."; /evidence="ECO:0000269|PubMed:40680733"; MUTAGEN 155; /note="F->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 165; /note="T->P: Reduced T3 uptake and DIT efflux."; /evidence="ECO:0000269|PubMed:38661522"; MUTAGEN 182; /note="F->A: Loss of homodimerization. No effect on T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 186; /note="H->A: Loss of homodimerization. No effect on thyroid hormone (TH) transport."; /evidence="ECO:0000269|PubMed:23610131, ECO:0000269|PubMed:40140416"; MUTAGEN 213; /note="F->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 216; /note="S->A: No effect on thyroid hormone transport. No effect on protein abundance. No effect on protein localization to the plasma membrane."; /evidence="ECO:0000269|PubMed:26426690"; MUTAGEN 271; /note="F->A: Loss of homodimerization. No effect on T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 335; /note="Y->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 335; /note="Y->F: Does not affect localization to the cell membrane. Significant reduction in T3 and T4 uptake."; /evidence="ECO:0000269|PubMed:40680733"; MUTAGEN 336; /note="F->A: Reduced T4 uptake."; /evidence="ECO:0000269|PubMed:40368961"; MUTAGEN 371; /note="R->A: Does not affect localization to the cell membrane. Abolishes T3 uptake activity. Significant reduction in T4 uptake."; /evidence="ECO:0000269|PubMed:20628049, ECO:0000269|PubMed:40140416, ECO:0000269|PubMed:40368961, ECO:0000269|PubMed:40680733"; MUTAGEN 376; /note="H->A: No effect on thyroid hormone (TH) transport."; /evidence="ECO:0000269|PubMed:23610131"; MUTAGEN 424; /note="D->A: Does not affect localization to the cell membrane. Abolishes T3 and T4 uptake activity."; /evidence="ECO:0000269|PubMed:20628049, ECO:0000269|PubMed:40680733"; MUTAGEN 424; /note="D->N: Does not affect localization to the cell membrane. Loss of T3 and T4 uptake. Significant reduction in DIT efflux."; /evidence="ECO:0000269|PubMed:38661522, ECO:0000269|PubMed:40368961, ECO:0000269|PubMed:40680733"; MUTAGEN 427; /note="F->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 428; /note="I->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 428; /note="I->F: Does not affect localization to the cell membrane. Significant reduction in T4 uptake but not much effect on T3 uptake."; /evidence="ECO:0000269|PubMed:40680733"; MUTAGEN 431; /note="M->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 448; /note="I->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 452; /note="L->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 455; /note="M->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 459; /note="M->A: Reduced T3 uptake."; /evidence="ECO:0000269|PubMed:40140416"; MUTAGEN 469; /note="L->P: Reduced T3 uptake and DIT efflux."; /evidence="ECO:0000269|PubMed:38661522"; MUTAGEN 490; /note="G->A: No effect on thyroid hormone (TH) transport."; /evidence="ECO:0000269|PubMed:27805744
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
protein_family
Monocarboxylate porter (TC 2.A.1.13) family
uniprot
proteins
pubmed
14661163
uniprot
proteins
pubmed
15488219
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15889350
uniprot
proteins
pubmed
16887882
uniprot
proteins
pubmed
18337592
uniprot
proteins
pubmed
18398436
uniprot
proteins
pubmed
18636565
uniprot
proteins
pubmed
18687783
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19797118
uniprot
proteins
pubmed
20628049
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23550058
uniprot
proteins
pubmed
23610131
uniprot
proteins
pubmed
25380603
uniprot
proteins
pubmed
25527620
uniprot
proteins
pubmed
26426690
uniprot
proteins
pubmed
27805744
uniprot
proteins
pubmed
28526555
uniprot
proteins
pubmed
31436139
uniprot
proteins
pubmed
32143555
uniprot
proteins
pubmed
38661522
uniprot
proteins
pubmed
40140416
uniprot
proteins
pubmed
40368961
uniprot
proteins
pubmed
40680733
uniprot
proteins
pubmed
7981683
uniprot
proteins
sequence_length
539
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20628049, ECO:0000269|PubMed:23550058, ECO:0000269|PubMed:25527620, ECO:0000269|PubMed:26426690, ECO:0000269|PubMed:40680733}; Multi-pass membrane protein {ECO:0000269|PubMed:40680733}. Apical cell membrane {ECO:0000269|PubMed:18687783}; Multi-pass membrane protein {ECO:0000269|PubMed:40680733}.
uniprot
proteins
transmembrane_region
TRANSMEM 97..117; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 144..164; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 172..192; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 201..221; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 230..250; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 259..279; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 323..343; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 357..377; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 387..407; /note="Helical; Name=9"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 410..430; /note="Helical; Name=10"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 448..468; /note="Helical; Name=11"; /evidence="ECO:0000269|PubMed:40680733"; TRANSMEM 478..498; /note="Helical; Name=12"; /evidence="ECO:0000269|PubMed:40680733
uniprot
proteins