UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:MCT8
HGNC Symbol:SLC16A2
HGNC Description:solute carrier family 16, member 2 (thyroid hormone transporter)
HGNC ID:10923
Superfamily:SLC
Chromosome:Chr.X(+): 73641328-73753764 GRCh37
Location:Xq13.2
OMIM:300095
OMIM Phenotype:Monocarboxylate transporter 8 deficiency
Accessions:NM_006517
Nucleotide RefSeq:NM_006517
Protein RefSeq:NP_006508
Entrez:6567
Ensembl:ENSG00000147100
Isoforms:2
Evidence:Substrate In Vitro Evidence: When expressed in X. laevis oocytes, MCT8 transported thyroid hormone (T3 and T4) in a sodium- and proton-independent manner, but did not transport lactate or aromatic amino acids (Halestrap AP, Meredith D. The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. Pflugers Arch, May 9, 2003 [Epub ahead of print]). Substrate In Vivo Evidence: A recent report found mutations in the MCT8 gene in two unrelated families in which affected males exhibited a syndrome of thyroid hormone abnormalities, including abnormal relative concentrations of three circulating iodothyronines, as well as neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing (Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 74(1):168-75, 2004). Tissue Distribution Evidence: Northern blot analysis showed MCT8 to be widely expressed, with highest expression in liver and heart (Halestrap AP, Meredith D. The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. Pflugers Arch, May 9, 2003 [Epub ahead of print]).
Tissues:Ubiquitous; liver, heart (high)
Type:protein-coding
Sets:V
PharmGKB ID:PA35814
HPRD ID:02106
Substrates:Thyroid hormone (T3, T4)
Trivial Names:AHDS, MCT7, MCT8, XPCT, MCT 7, MCT 8, MRX22, DXS128, DXS128E
Transcripts:NM_006517.4 [Chr.X(+): 73641328-73753764 GRCh37]
XM_005262294.1 [Chr.X(+): 73641392-73753752 GRCh37]
ENST00000276033 [Chr.X(+): 73641085-73753743 GRCh37]
ENST00000587091 [Chr.X(+): 73641296-73753752 GRCh37]
ENST00000590447 [Chr.X(+): 73740955-73752443 GRCh37]
Annotation History:View Events (17)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC16A2.

Variant Data

View all PMT variants for SLC16A2 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.