Property Summary

NCBI Gene PubMed Count 59
Grant Count 15
Funding $2,743,312.89
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 0.000
posterior fossa group A ependymoma 1.500 0.000
cystic fibrosis 2.997 0.000
adrenocortical carcinoma -1.470 0.005
active ulcerative colitis 1.693 0.016
breast carcinoma -1.200 0.000

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.
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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.
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