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Aliases for SLC16A2 Gene

Aliases for SLC16A2 Gene

  • Solute Carrier Family 16, Member 2 (Thyroid Hormone Transporter) 2 3
  • XPCT 3 4 6
  • X-Linked PEST-Containing Transporter 3 4
  • Monocarboxylate Transporter 7 3 4
  • DXS128 3 6
  • MCT 7 3 4
  • MCT 8 3 4
  • MCT8 3 4
  • Solute Carrier Family 16 (Monocarboxylic Acid Transporters), Member 2 (Putative Transporter) 2
  • Solute Carrier Family 16, Member 2 (Monocarboxylic Acid Transporter 8) 2
  • Solute Carrier Family 16 (Monocarboxylic Acid Transporters), Member 2 2
  • Solute Carrier Family 16 Member 2 4
  • Mental Retardation, X-Linked 22 2
  • Allan-Herndon-Dudley Syndrome 2
  • Monocarboxylate Transporter 8 3
  • DXS128E 3
  • MRX22 3
  • MCT7 3
  • AHDS 3

External Ids for SLC16A2 Gene

Previous Symbols for SLC16A2 Gene

  • DXS128
  • AHDS
  • MRX22

Summaries for SLC16A2 Gene

Entrez Gene Summary for SLC16A2 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). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]

GeneCards Summary for SLC16A2 Gene

SLC16A2 (Solute Carrier Family 16, Member 2 (Thyroid Hormone Transporter)) is a Protein Coding gene. Diseases associated with SLC16A2 include mct8-specific thyroid hormone cell-membrane transporter deficiency and allan-herndon-dudley syndrome. Among its related pathways are Thyroid hormone signaling pathway. GO annotations related to this gene include transporter activity and monocarboxylic acid transmembrane transporter activity. An important paralog of this gene is SLC16A10.

UniProtKB/Swiss-Prot for SLC16A2 Gene

  • 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).

Gene Wiki entry for SLC16A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC16A2 Gene

Genomics for SLC16A2 Gene

Genomic Location for SLC16A2 Gene

Start:
74,421,461 bp from pter
End:
74,533,929 bp from pter
Size:
112,469 bases
Orientation:
Plus strand

Genomic View for SLC16A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC16A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC16A2 Gene

Regulatory Elements for SLC16A2 Gene

Proteins for SLC16A2 Gene

  • Protein details for SLC16A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36021-MOT8_HUMAN
    Recommended name:
    Monocarboxylate transporter 8
    Protein Accession:
    P36021
    Secondary Accessions:
    • Q7Z797

    Protein attributes for SLC16A2 Gene

    Size:
    539 amino acids
    Molecular mass:
    59511 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • Abnormal brain development associated with MCT8 deficiency may be the consequence of either decreased or increased intracellular T3 concentrations
    SequenceCaution:
    • Sequence=AAB60374.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAB60375.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for SLC16A2 Gene

Proteomics data for SLC16A2 Gene at MOPED

Post-translational modifications for SLC16A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC16A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC16A2 Gene

Domains for SLC16A2 Gene

Gene Families for SLC16A2 Gene

Protein Domains for SLC16A2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

MOT8_HUMAN
Family:
  • Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.:
    • P36021
genes like me logo Genes that share domains with SLC16A2: view

Function for SLC16A2 Gene

Molecular function for SLC16A2 Gene

GENATLAS Biochemistry: solute carrier family 16,member A2,monocarboxylic acids transporter,67kDa,mediating movement of lactate and pyruvate across membranes
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for SLC16A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 7981683
GO:0008028 monocarboxylic acid transmembrane transporter activity TAS 9425115
GO:0015293 symporter activity IEA --
GO:0015349 thyroid hormone transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC16A2: view
genes like me logo Genes that share phenotypes with SLC16A2: view

Animal Models for SLC16A2 Gene

MGI Knock Outs for SLC16A2:

miRNA for SLC16A2 Gene

miRTarBase miRNAs that target SLC16A2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC16A2 Gene

Localization for SLC16A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC16A2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC16A2 Gene COMPARTMENTS Subcellular localization image for SLC16A2 gene
Compartment Confidence
plasma membrane 5
cytosol 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC16A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9425115
GO:0016020 membrane TAS 9425115
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with SLC16A2: view

Pathways for SLC16A2 Gene

genes like me logo Genes that share pathways with SLC16A2: view

Pathways by source for SLC16A2 Gene

1 KEGG pathway for SLC16A2 Gene

Interacting Proteins for SLC16A2 Gene

Selected Interacting proteins: P36021-MOT8_HUMAN for SLC16A2 Gene via I2D

Symbol External ID(s) Details
SERPINA7
THRA

Gene Ontology (GO) - Biological Process for SLC16A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7981683
GO:0015718 monocarboxylic acid transport TAS 9425115
GO:0034220 ion transmembrane transport IBA --
GO:0055085 transmembrane transport --
GO:0070327 thyroid hormone transport IBA --
genes like me logo Genes that share ontologies with SLC16A2: view

Compounds for SLC16A2 Gene

(1) HMDB Compounds for SLC16A2 Gene

Compound Synonyms Cas Number PubMed IDs
Pyruvic acid
  • 2-Oxopropanoate
127-17-3

(6) Drugbank Compounds for SLC16A2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Levothyroxine
  • (-)-Thyroxine
51-48-9 transporter inhibitor
Liotrix
8065-29-0 transporter inhibitor
L-Leucine
  • (2S)-2-Amino-4-methylpentanoic acid
61-90-5 transporter substrate
L-Tryptophan
  • (-)-Tryptophan
73-22-3 transporter inhibitor
L-Tyrosine
  • 2-Amino-3-(p-hydroxyphenyl)propionic acid
60-18-4 transporter inhibitor

(2) Novoseek inferred chemical compound relationships for SLC16A2 Gene

Compound -log(P) Hits PubMed IDs
triiodothyronine 70.7 6
thyroxine 66.4 2
genes like me logo Genes that share compounds with SLC16A2: view

Transcripts for SLC16A2 Gene

mRNA/cDNA for SLC16A2 Gene

Unigene Clusters for SLC16A2 Gene

Solute carrier family 16, member 2 (thyroid hormone transporter):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC16A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -

Relevant External Links for SLC16A2 Gene

GeneLoc Exon Structure for
SLC16A2
ECgene alternative splicing isoforms for
SLC16A2

Expression for SLC16A2 Gene

mRNA expression in normal human tissues for SLC16A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC16A2 Gene

This gene is overexpressed in Liver (4.5) and Adrenal Gland (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC16A2 Gene

SOURCE GeneReport for Unigene cluster for SLC16A2 Gene Hs.75317

mRNA Expression by UniProt/SwissProt for SLC16A2 Gene

P36021-MOT8_HUMAN
Tissue specificity: Highly expressed in liver and heart
genes like me logo Genes that share expressions with SLC16A2: view

Orthologs for SLC16A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC16A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC16A2 37
  • 76 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC16A2 36
  • 92.09 (n)
  • 92.71 (a)
SLC16A2 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC16A2 36
  • 92.63 (n)
  • 94.6 (a)
SLC16A2 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc16a2 36
  • 89.67 (n)
  • 93.88 (a)
Slc16a2 16
Slc16a2 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC16A2 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC16A2 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc16a2 36
  • 89.73 (n)
  • 92.75 (a)
chicken
(Gallus gallus)
Aves SLC16A2 36
  • 70.46 (n)
  • 67.81 (a)
SLC16A2 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC16A2 37
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494635 36
  • 65.09 (n)
  • 66.89 (a)
zebrafish
(Danio rerio)
Actinopterygii slc16a2 36
  • 67.09 (n)
  • 65.4 (a)
slc16a2 37
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kar 37
  • 14 (a)
OneToMany
kar 38
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea gem-1 37
  • 7 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 15 (a)
ManyToMany
Species with no ortholog for SLC16A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC16A2 Gene

ENSEMBL:
Gene Tree for SLC16A2 (if available)
TreeFam:
Gene Tree for SLC16A2 (if available)

Paralogs for SLC16A2 Gene

Paralogs for SLC16A2 Gene

Selected SIMAP similar genes for SLC16A2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC16A2: view

Variants for SLC16A2 Gene

Sequence variations from dbSNP and Humsavar for SLC16A2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs9361 -- 74,533,474(+) CCAGG(A/G)GAGAC utr-variant-3-prime
rs478537 -- 74,456,048(+) GATTA(C/T)GTGTG intron-variant
rs479640 -- 74,448,994(+) CTGCC(C/T)AATTG intron-variant
rs484079 -- 74,456,658(+) GAGAA(A/C)CTGAA intron-variant
rs485156 -- 74,456,808(-) TTACC(A/G)GACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC16A2 Gene

Variant ID Type Subtype PubMed ID
nsv521472 CNV Gain 19592680
esv1645631 CNV Insertion 17803354
nsv424889 CNV Insertion 16902084
nsv507971 CNV Insertion 20534489

Relevant External Links for SLC16A2 Gene

HapMap Linkage Disequilibrium report
SLC16A2
Human Gene Mutation Database (HGMD)
SLC16A2
Locus Specific Mutation Databases (LSDB)
SLC16A2

Disorders for SLC16A2 Gene

(1) OMIM Diseases for SLC16A2 Gene (300095)

UniProtKB/Swiss-Prot

MOT8_HUMAN
  • Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]: 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. {ECO:0000269 PubMed:14661163, ECO:0000269 PubMed:15488219, ECO:0000269 PubMed:15889350, ECO:0000269 PubMed:18636565, ECO:0000269 Ref.8}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SLC16A2 Gene

(4) Novoseek inferred disease relationships for SLC16A2 Gene

Disease -log(P) Hits PubMed IDs
muscle hypoplasia 85.3 1
developmental delay 45.9 1
mental retardation 43.7 3
critically ill 38.8 6

Relevant External Links for SLC16A2

Genetic Association Database (GAD)
SLC16A2
Human Genome Epidemiology (HuGE) Navigator
SLC16A2
genes like me logo Genes that share disorders with SLC16A2: view

Publications for SLC16A2 Gene

  1. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. (PMID: 14661163) Dumitrescu A.M. … Refetoff S. (Am. J. Hum. Genet. 2004) 3 4 23 49
  2. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. (PMID: 15889350) Schwartz C.E. … Stevenson R.E. (Am. J. Hum. Genet. 2005) 2 3 4 23
  3. A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. (PMID: 7981683) Lafreniere R.G. … Willard H.F. (Hum. Mol. Genet. 1994) 2 3 4 23
  4. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. (PMID: 15488219) Friesema E.C.H. … Visser T.J. (Lancet 2004) 3 4 23
  5. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. (PMID: 18398436) Frints S.G. … Kuss A.W. (Eur. J. Hum. Genet. 2008) 3 4 23

Products for SLC16A2 Gene

Sources for SLC16A2 Gene

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