SLC16A2 (solute carrier family 16 member 2)

2017-10-01 Affiliation

Identity

HGNC

SLC16A2

LOCATION

Xq13.2

LOCUSID

6567

ALIAS

AHDS,DXS128,DXS128E,MCT 7,MCT 8,MCT7,MCT8,MRX22,XPCT

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6567
MIM: 300095
HGNC: 10923
Ensembl: ENSG00000147100

Variants:

dbSNP: 6567
ClinVar: 6567
TCGA: ENSG00000147100
COSMIC: SLC16A2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000147100	ENST00000587091	P36021
ENSG00000147100	ENST00000590447	K7ELT4
ENSG00000147100	ENST00000636771	A0A1B0GVB4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Thyroid hormone signaling pathway	KEGG	hsa04919
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of vitamins, nucleosides, and related molecules	REACTOME	R-HSA-425397
Transport of organic anions	REACTOME	R-HSA-879518

References

Pubmed ID	Year	Title	Citations
15488219	2004	Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.	142
18687783	2008	Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.	80
15889350	2005	Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.	73
18337592	2008	Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10.	66
15661862	2005	The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations.	56
19641107	2009	Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.	50
16887882	2006	Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism.	47
19194886	2009	Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.	25
20628049	2010	Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.	23
25222753	2014	Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.	23

Citation

Dessen P

SLC16A2 (solute carrier family 16 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57153/slc16a2