GeneID: 288

Names

Common Name:	SLC16A2	Type:	Gene
Chromosome:	X (NC_000023.11)	Locus:	NG_011641.2 (SLC16A2)
HUGO Symbol:	SLC16A2	Full Name:	solute carrier family 16 member 2
Exons:	6	Introns:	5

Description:
This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. Thyroid hormone is an important modulator of cardiac function, including cardiac contractility, heart rate, blood pressure, and systemic vascular resistance. This gene was associated with diastolic dysfunction in patients with sickle cell disease (SCD), following experimental validation in a mouse SCD model.

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

Comments:
N/A

Number of entries/variants: 0

External Links

NCBI Gene	UniProtKB
HGNC	OMIM

IthaScore

Sequence Viewer

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Publications / Origin

Danzi S, Klein I, Thyroid hormone and the cardiovascular system., Minerva Endocrinol., 29(3), 139-50, 2004 PubMed
Duarte JD, Desai AA, Sysol JR, Abbasi T, Patel AR, Lang RM, Gupta A, Garcia JG, Gordeuk VR, Machado RF, Genome-Wide Analysis Identifies IL-18 and FUCA2 as Novel Genes Associated with Diastolic Function in African Americans with Sickle Cell Disease., PLoS ONE , 11(9), e0163013, 2016 PubMed

Created on 2019-09-30 14:24:40, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-09-30 14:24:40	The IthaGenes Curation Team	Created

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