Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6567
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 16 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC16A2
Synonyms (NCBI Gene) Gene synonyms aliases
AHDS, DXS128, DXS128E, MCT 7, MCT 8, MCT7, MCT8, MRX22, XPCT
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). T
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894931 T>C Pathogenic Coding sequence variant, missense variant
rs104894936 C>A,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs104894938 T>C,G Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs104894939 T>G Pathogenic Coding sequence variant, missense variant
rs104894940 C>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050975 hsa-miR-17-5p CLASH 23622248
MIRT054165 hsa-miR-191-5p Immunoprecipitation, In situ hybridization, Luciferase assay, Microarray, Northern blot, QRTPCR, Western blot 23505378
MIRT1352997 hsa-miR-1236 CLIP-seq
MIRT1352998 hsa-miR-1271 CLIP-seq
MIRT1352999 hsa-miR-1273f CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 35271311
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 19022891, 21315799, 26426690
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300095 10923 ENSG00000147100
Protein
UniProt ID P36021
Protein name Monocarboxylate transporter 8 (MCT 8) (Monocarboxylate transporter 7) (MCT 7) (Solute carrier family 16 member 2) (X-linked PEST-containing transporter)
Protein 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 exte
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 98 441 Major Facilitator Superfamily Family
PF07690 MFS_1 408 532 Major Facilitator Superfamily Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver and heart (PubMed:7981683). In adult brain tissue expression is largely confined to endothelial cells of the blood-brain barrier (at protein level) (PubMed:18687783, PubMed:32143555). {ECO:0000269|PubMed:18687
Sequence
Sequence length 539
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Hormone signaling
Thyroid hormone signaling pathway
  Transport of organic anions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Allan-Herndon-Dudley Syndrome allan-herndon-dudley syndrome rs1602099961, rs1555989375, rs104894938, rs587784384, rs1555989729, rs1602143383, rs104894939, rs1555989364, rs1602143432, rs104894940, rs387906501, rs797045965, rs1555989846, rs113994166, rs797045966
View all (13 more)
N/A
Hereditary spastic paraplegia Hereditary spastic paraplegia rs587784384 N/A
Mental retardation intellectual disability rs122455132 N/A
Spastic Paraplegia spastic paraplegia rs886042238, rs587784383, rs1602099961, rs587784384, rs1555979596, rs1034820850, rs1930458591, rs1569280986, rs766773277, rs1569281085 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 27929073
Abortion Spontaneous Associate 37968664
Allan Herndon Dudley syndrome Associate 15889350, 15980113, 19811520, 24721225, 25284458, 26426690, 28742507, 29111262, 30369548, 31410843, 31856685, 32559475, 32603881, 33141165, 35382784
View all (5 more)
Allan Herndon Dudley syndrome Inhibit 33141165
Aortic Valve Stenosis Associate 24721225
Atrial Premature Complexes Associate 32559475
Brain Damage Chronic Associate 25222753
Breast Neoplasms Associate 34868337, 37986376
Cardiovascular Diseases Associate 34679181
Cerebral Palsy Associate 19811520, 35076175