Property Summary

NCBI Gene PubMed Count 59
PubMed Score 230.58
PubTator Score 156.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma -5.900 3.3e-10
posterior fossa group A ependymoma 1.500 2.6e-14
cystic fibrosis 2.997 4.3e-08
adrenocortical carcinoma -1.470 4.9e-03
active ulcerative colitis 1.693 1.6e-02
breast carcinoma -1.200 1.1e-04

Gene RIF (47)

PMID Text
26426690 MCT8 Mutation is associated with Allan-Herndon-Dudley Syndrome.
25527620 Specific mutations of MCT8 located in transmembrane helix 2 (del230F, V235M, and ins236V) increase the capacity of MCT8 variants to dimerize.
25247785 we report 4 Allan-Herndon-Dudley syndrome patients in unrelated Turkish families harboring novel MCT8 mutations
25222753 brain damage in MCT8 deficiency is diffuse, without evidence of focal lesions, and present from fetal stages despite apparent normality at birth
24204008 A reduction in MCT8 expression in the intrauterine growth retardation fetal brain could further compromise Thyroid hormone-dependent brain development.
23978482 two SNPs in MCT8 were related to circulating thyroid hormone levels in men but not in women: the rs5937843 polymorphism (G/T) was inversely associated with FT4 levels and the rs6647476 (T/C) polymorphism related negatively to circulating FT3
23776477 Monocarboxylate transporter 8 modulates the viability and invasive capacity of human placental cells and fetoplacental growth in mice.
23744248 A boy with Allan-Herndon-Dudley syndrome and his heterozygous mother had a point mutation in exon 3 of the MCT8 gene 1201G>A:G401R which changes the properties of the protein.
23610131 Results indicate that His192 is sensitive to modification by DEPC and may be located close to a putative substrate recognition site within the MCT8 protein, important for efficient TH uptake.
23568789 We describe three new SLC16A2 mutations associated with different levels of clinical severity in patients with psychomotor retardation disorders.
23550058 MCT8 mutations in Allan-Herndon-Dudley Syndrome patients may have tissue-specific effects on thyroid hormone transport.
23546606 Importance of cysteine residues in the thyroid hormone transporter MCT8.
23419639 study reports a family with two patients affected by Allan-Herndon-Dudley syndrome in two consecutive generations with a c.670 G->A, p.A224 mutation in the MCT8 gene
22924588 This study indicates that MCT8 mutations are a relatively frequent cause of X-linked mental retardation.
22805248 3 males patients with marked delayed brain myelination and in which the clinical picture was dominated by early onset nonparoxysmal extrapyramidal symptoms. In one subject a novel mutation is described.
21813593 Our results implicate peripheral deiodination in the peculiar hormonal constellation of MCT8-deficient patients
21486766 From the early first trimester, immunohistochemistry localised MCT8 to the microvasculature and to undifferentiated CNS cells in the cerebral cortex. However, human NT2 cell neurodifferentiation is not dependent upon triiodothyronine or MCT8.
21415082 nonsense mutation in MCT8 (c.1102A-->T (p.R368X)) was identified in the proband causing X-linked leucoencephalopathy
21315799 monocarboxylate transporter 8 facilitates bromoacetyl [(125)I] iodothyronine transport, but is not labeled by it
21208750 Group-by-genotype interactions for 2 highly correlated SNPs (rs496549 & rs479640) revealed co-localised association clusters in the left occipital cortex.
20705735 findings demonstrate a potential link between FUS mutations and cellular pathways involved in stress responses that may be relevant to altered motor neuron homeostasis in ALS
20660035 Increased monocarboxylate transporter 8 expression and intracellular T(3) accumulation may contribute to the altered T(3) responsiveness of IUGR cytotrophoblasts.
20628049 structural model and functional data
20373986 Thigh subcutaneous adipose tissue from subjects with familial partial lipodystrophy 2 has lower expression of MCT8 and activity than abdominal SAT, suggesting that changes in local thyroid hormone metabolism may occur in areas with lipoatrophy.
20167367 Increased MCT8 and decreased MCT10 expression within placentae of pregnancies complicated by IUGR may contribute to aberrant development of the fetoplacental unit.
19811520 Data show that SLC16A2 involvement should be considered in males with learning disability, an associated motor or movement disorder, and evidence of delayed myelination on brain MRI.
19797118 MCT8 exists as monomer and homodimer in transiently and stably transfected cells.
19648159 The finding that the cell type determines surface expression and T(3) transport activities of missense mutants in MCT8 may be important to understand phenotypic variability among carriers of different mutations.
19641107 lack of functional complementation by alternative thyroid hormone transporters in developing human neurons precipitates the neurodevelopmental phenotype in MCT8-deficiencies; Mct8-deficient mouse neurons are functionally complemented by other transporters
19439506 In prolonged critically ill patients, authors measured increased MCT8 but not MCT10 gene expression levels in liver and skeletal muscle as compared with patients undergoing acute surgical stress.
19194886 Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
19022891 Data show that small interfering RNA depletion of endogenous MCT8 resulted in increased cell survival and decreased T(3) uptake.
18710470 The S107P single nucleotide polymorphism in SLC16A2, the gene encoding the thyroid hormone (TH)-specific transporter monocarboxylate transporter 8 (MCT8), is frequent in the male population in Galicia.
18710470 Observational study of gene-disease association. (HuGE Navigator)
18687783 Data report that in addition to neuronal expression, MCT8 mRNA and protein are expressed in cerebral microvessels in human.
18636565 abnormal brain development associated with MCT8 mutations may be the consequence of either decreased or increased intracellular 3,3',5-triiodothyronine concentrations.
18398436 Allan-Herndon-Dudley syndrome clinical features can be present in female MCT8 mutation carriers whenever there is unfavorable nonrandom X-inactivation.
18337592 MCT10 is at least as active a thyroid hormone transporter as hMCT8, and that both transporters facilitate iodothyronine uptake as well as efflux.
18187543 Mutants L434W, L568P, and S194F showed significant residual transport capacity, which may underlie the more advanced psychomotor development observed in patients with these mutations.
17684393 MCT8 plays an important role in the development of the central nervous system by transporting thyroid hormone into neurons as its main target cells. (Review)
17356046 findings support the hypothesis that the severe psychomotor retardation and elevated serum T3 hormone levels in these patients are caused by inactivation of the MCT8 transporter, preventing action and metabolism of T(3) in central neurons
16957765 The SLC16A2 (formerly MCT8) gene is located on chromosome Xq13.2 and has recently been associated with a syndrome combining severe, X-linked, psychomotor retardation and high serum T3 levels.
16887882 hMCT8 mediates plasma membrane transport of iodothyronines, thus increasing their intracellular availability.
15889350 Abnormal transporter function is reflected in elevated free triiodothyronine and lowered free thyroxine levels in the blood. Infancy and childhood in the Allan-Herndon-Dudley syndrome are marked by hypotonia, weakness, reduced
15834651 X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
15661862 MCT8 plays an important role for proper central nervous system development by transporting TH into neurons as its main target cells.
15488219 Association between mutations in MCT8, a thyroid hormone transporter, and severe X-linked psychomotor retardation

AA Sequence

MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFE      1 - 70
SERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVE     71 - 140
FQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCS    141 - 210
FAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTY    211 - 280
RPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEF    281 - 350
SEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFL    351 - 420
GLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIG    421 - 490
AVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI                         491 - 539
//

Text Mined References (60)

PMID Year Title
26426690 2015 Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.
25527620 2015 Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.
25247785 2014 Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.
25222753 2014 Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
24204008 2014 MCT8 expression in human fetal cerebral cortex is reduced in severe intrauterine growth restriction.
23978482 2013 Associations between single nucleotide polymorphisms in thyroid hormone transporter genes (MCT8, MCT10 and OATP1C1) and circulating thyroid hormones.
23776477 2013 Monocarboxylate transporter 8 modulates the viability and invasive capacity of human placental cells and fetoplacental growth in mice.
23744248 2013 [MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature].
23610131 2013 Importance of His192 in the human thyroid hormone transporter MCT8 for substrate recognition.
23568789 2013 Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
23550058 2013 Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.
23546606 2013 Importance of cysteine residues in the thyroid hormone transporter MCT8.
23419639 2013 Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels.
22924588 2013 Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation.
22805248 2013 MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21813593 2011 Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy.
21486766 2011 The expression of thyroid hormone transporters in the human fetal cerebral cortex during early development and in N-Tera-2 neurodifferentiation.
21415082 2011 Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.
21315799 2011 The thyroid hormone transporters MCT8 and MCT10 transport the affinity-label N-bromoacetyl-[(125)I]T3 but are not modified by it.
21208750 2011 Thyroid hormone transporter genes and grey matter changes in patients with major depressive disorder and healthy controls.
20705735 2010 Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.
20660035 2010 Differential triiodothyronine responsiveness and transport by human cytotrophoblasts from normal and growth-restricted pregnancies.
20628049 2010 Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.
20373986 2010 Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism.
20167367 2010 Expression of thyroid hormone transporters in the human placenta and changes associated with intrauterine growth restriction.
19811520 2010 White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
19797118 2009 Evidence for a homodimeric structure of human monocarboxylate transporter 8.
19648159 2009 Surface translocation and tri-iodothyronine uptake of mutant MCT8 proteins are cell type-dependent.
19641107 2009 Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.
19439506 2009 Expression of thyroid hormone transporters during critical illness.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19194886 2009 Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
19022891 2009 Monocarboxylate transporter 8 in neuronal cell growth.
18710470 2009 Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia).
18687783 2008 Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.
18636565 2009 Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.
18398436 2008 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
18337592 2008 Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10.
18187543 2008 Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.
17684393 2007 Thyroid hormone transporter defects.
17356046 2007 Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16957765 2006 Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.
16887882 2006 Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism.
15889350 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
15834651 2005 X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
15772651 2005 The DNA sequence of the human X chromosome.
15661862 2005 The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations.
15488219 2004 Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14661163 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
12871948 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.
12739169 2004 The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond.
9545634 1998 Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene.
9425115 1998 Cloning and sequencing of four new mammalian monocarboxylate transporter (MCT) homologues confirms the existence of a transporter family with an ancient past.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
7981683 1994 A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.