SLC16A2
Protein name:
MCT8
Aliases:
MOT8, XPCT, MCT7
Substrates:
T2, rT3, T3, T4
Transport type:
Facilitated transporter
Tissue and cellular expression:
most tissues including liver, heart, brain, thymus, intestine, ovary, prostate, pancreas, placenta, lung kidney, skeletal muscle
Subcellular expression:
N/D
Disease:
Allan-Herndon-Dudley syndrome
Locus:
Xq13.2,
Sequence ID:
NP_006508.2,
NM_006517.4
Gene ID:
6567
Splice variants:
N/D
MOT8_HUMAN (UniProt)
Gene names:
SLC16A2, MCT8, XPCT
Protein names and data:
MOT8_HUMAN, Full=Monocarboxylate transporter 8;Short=MCT 8, Full=Monocarboxylate transporter 7;Short=MCT 7;Full=Solute carrier family 16 member 2;Full=X-linked PEST-containing transporter;
Length: 539 a.a., Mass: 59511 Da,
fasta formatted sequence
Function:
Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr (By similarity)
Disease:
(OMIM:
300095 300523)
Defects in SLC16A2 are the cause of monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]; also known as Allan-Herndon-Dudley syndrome (AHDS). MCT8 deficiency 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
Cellular location:
Cell membrane; Multi-pass membrane protein (By similarity)
Tissue specificity:
Highly expressed in liver and heart
Database cross-references
UniProt:
P36021
NextBio:
25551
OMIM:
300095
300523
Ensembl:
ENST00000276033
GeneCard:
GC0XP074423
PharmGenUCSF:
SLC16A2
Guide to Pharmacology:
SLC16A2 (992)
SLC16 family of monocarboxylate transporters (992)
HGNC:
HGNC:10923
Genetic variants
See also Ensembl:ENST00000276033
120 - 120
S -> F (in MCT8 deficiency). VAR_059054
150 - 150
A -> V (in MCT8 deficiency). VAR_022348
156 - 156
Missing (in MCT8 deficiency). VAR_059055
161 - 161
V -> M (in MCT8 deficiency). VAR_059056
323 - 323
I -> L (in dbSNP:rs12849411). VAR_057723
12849411
360 - 360
L -> W (in MCT8 deficiency). VAR_059057
397 - 397
L -> P (in MCT8 deficiency). VAR_022349
427 - 427
Missing (in MCT8 deficiency). VAR_059058
438 - 438
L -> P (in MCT8 deficiency). VAR_022350
490 - 490
G -> R (in MCT8 deficiency). VAR_059059
494 - 494
L -> P (in MCT8 deficiency). VAR_059060
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