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Aliases for SLC16A2 Gene

Aliases for SLC16A2 Gene

  • Solute Carrier Family 16 Member 2 2 3 4 5
  • Solute Carrier Family 16, Member 2 (Thyroid Hormone Transporter) 2 3
  • X-Linked PEST-Containing Transporter 3 4
  • Monocarboxylate Transporter 7 3 4
  • MCT 7 3 4
  • MCT 8 3 4
  • MCT8 3 4
  • XPCT 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
  • Mental Retardation, X-Linked 22 2
  • Allan-Herndon-Dudley Syndrome 2
  • Monocarboxylate Transporter 8 3
  • DXS128E 3
  • DXS128 3
  • MRX22 3
  • MCT7 3
  • AHDS 3

External Ids for SLC16A2 Gene

Previous HGNC Symbols for SLC16A2 Gene

  • DXS128
  • AHDS
  • MRX22

Previous GeneCards Identifiers for SLC16A2 Gene

  • GC0XP069442
  • GC0XP070815
  • GC0XP071855
  • GC0XP072507
  • GC0XP073424
  • GC0XP073557
  • GC0XP073640
  • GC0XP067253

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) is a Protein Coding gene. Diseases associated with SLC16A2 include Allan-Herndon-Dudley Syndrome and Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of vitamins, nucleosides, and related molecules. 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.

Gene Wiki entry for SLC16A2 Gene

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

Genomics for SLC16A2 Gene

Regulatory Elements for SLC16A2 Gene

Enhancers for SLC16A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG074534 1.4 FANTOM5 Ensembl ENCODE 12.6 +114.6 114612 3.8 PKNOX1 ZNF133 FEZF1 RAD21 YY1 GLIS2 SCRT2 EGR2 ZNF263 ZNF654 SLC16A2 RLIM PIR45746 PIR50185
GH0XG074449 1 Ensembl ENCODE 12.8 +29.5 29512 2.9 ZNF146 ZSCAN26 NFIB MAX ZNF195 FEZF1 ZIC2 ZNF664 GATA3 SCRT2 SLC16A2 CHIC1 ENSG00000271533 ENSG00000271199 GC0XM074453
GH0XG074381 0.9 Ensembl ENCODE 12.4 -39.1 -39086 1.3 CTCF MAZ ZNF654 PKNOX1 ZSCAN4 TRIM22 REST RAD21 ZNF707 AEBP2 SLC16A2 RN7SL790P RPS6P26
GH0XG074419 0.9 ENCODE 0.7 +0.3 321 4.6 HDGF PKNOX1 ZNF76 KLF17 SIN3A GLI4 RAD21 YY1 GLIS2 ZNF366 ENSG00000271533 SLC16A2 GC0XM074453
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC16A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC16A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247271 39 3401 HDGF PKNOX1 ZNF76 KLF17 GLI4 RAD21 GLIS2 ZNF366 SCRT2 EGR2

Genomic Location for SLC16A2 Gene

Chromosome:
X
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

Genes around SLC16A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC16A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC16A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for SLC16A2 Gene

Protein Domains for SLC16A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC16A2 Gene

Graphical View of Domain Structure for InterPro Entry

P36021

UniProtKB/Swiss-Prot:

MOT8_HUMAN :
  • Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.
Family:
  • Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.
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.

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 TAS,IEA --
genes like me logo Genes that share ontologies with SLC16A2: view

Phenotypes for SLC16A2 Gene

MGI mutant phenotypes for SLC16A2:
inferred from 4 alleles
GenomeRNAi human phenotypes for SLC16A2:
genes like me logo Genes that share phenotypes with SLC16A2: view

Human Phenotype Ontology for SLC16A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC16A2 Gene

MGI Knock Outs for SLC16A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC16A2

CRISPR Products

miRNA for SLC16A2 Gene

miRTarBase miRNAs that target SLC16A2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC16A2 gene
Compartment Confidence
plasma membrane 5
cytosol 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC16A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA,IEA 26426690
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC16A2: view

Pathways & Interactions for SLC16A2 Gene

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

Interacting Proteins for SLC16A2 Gene

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

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:0043252 sodium-independent organic anion transport TAS --
GO:0055085 transmembrane transport IEA --
GO:0070327 thyroid hormone transport IEA,IMP 26426690
genes like me logo Genes that share ontologies with SLC16A2: view

No data available for SIGNOR curated interactions for SLC16A2 Gene

Drugs & Compounds for SLC16A2 Gene

(7) Drugs for SLC16A2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Liotrix Approved Pharma Transporter, inhibitor 0
L-Tryptophan Approved, Withdrawn Nutra Positive, Allosteric regulator, Transporter, inhibitor 0
L-Tyrosine Approved Nutra Transporter, inhibitor 0
Pyruvic acid Approved Nutra Target 0
Levothyroxine Approved Pharma Transporter, inhibitor 0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.5) and Adrenal Gland (x4.1).

Protein differential expression in normal tissues from HIPED for SLC16A2 Gene

This gene is overexpressed in Adrenal (26.9), Frontal cortex (14.1), Pancreas (11.7), and Liver (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC16A2 Gene



Protein tissue co-expression partners for SLC16A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC16A2 Gene:

SLC16A2

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.

Evidence on tissue expression from TISSUES for SLC16A2 Gene

  • Nervous system(3.6)
  • Thyroid gland(3.5)
  • Liver(2.3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC16A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • salivary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • heart
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • pelvis
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SLC16A2: view

Primer Products

Orthologs for SLC16A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC16A2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia SLC16A2 34 35
  • 92.63 (n)
cow
(Bos Taurus)
Mammalia SLC16A2 34 35
  • 92.09 (n)
rat
(Rattus norvegicus)
Mammalia Slc16a2 34
  • 89.73 (n)
mouse
(Mus musculus)
Mammalia Slc16a2 34 16 35
  • 89.67 (n)
chimpanzee
(Pan troglodytes)
Mammalia SLC16A2 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC16A2 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC16A2 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC16A2 34 35
  • 70.46 (n)
lizard
(Anolis carolinensis)
Reptilia SLC16A2 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494635 34
  • 65.09 (n)
zebrafish
(Danio rerio)
Actinopterygii slc16a2 34 35
  • 67.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta kar 36 35
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea gem-1 35
  • 7 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 15 (a)
ManyToMany
Species where no ortholog for SLC16A2 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs104894931 Pathogenic, Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] 74,529,355(+) TGAGC(C/T)GGTGG reference, missense
rs104894936 Pathogenic, Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] 74,521,008(+) CCTCG(A/C/T)GATGG reference, missense
rs104894938 Pathogenic, Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] 74,531,414(+) AATCC(C/T)CTTCT reference, missense
rs104894939 Pathogenic, Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] 74,525,802(+) GCTCT(G/T)GGTGT reference, missense
rs113994162 Pathogenic, Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523] 74,421,996(+) TAACT(C/T)TGTCG upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
esv1645631 CNV insertion 17803354
esv3574055 CNV loss 25503493
esv3574056 CNV loss 25503493
esv3574057 CNV loss 25503493
nsv424889 CNV insertion 16902084
nsv471844 CNV novel sequence insertion 20440878
nsv507971 OTHER sequence alteration 20534489
nsv521472 CNV gain 19592680

Variation tolerance for SLC16A2 Gene

Residual Variation Intolerance Score: 45.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC16A2 Gene

Human Gene Mutation Database (HGMD)
SLC16A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC16A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC16A2 Gene

Disorders for SLC16A2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SLC16A2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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 PubMed:23550058, ECO:0000269 PubMed:25527620, ECO:0000269 PubMed:26426690, ECO:0000269 Ref.8}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC16A2

Genetic Association Database (GAD)
SLC16A2
Human Genome Epidemiology (HuGE) Navigator
SLC16A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC16A2
genes like me logo Genes that share disorders with SLC16A2: view

No data available for Genatlas for SLC16A2 Gene

Publications for SLC16A2 Gene

  1. 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 22 64
  2. 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 22 46 64
  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 22 64
  4. Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. (PMID: 18636565) Visser W.E. … Visser T.J. (Hum. Mutat. 2009) 3 4 22 64
  5. Evidence for a homodimeric structure of human monocarboxylate transporter 8. (PMID: 19797118) Visser W.E. … Visser T.J. (Endocrinology 2009) 3 4 22 64

Products for SLC16A2 Gene

Sources for SLC16A2 Gene

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