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FLASH GENE

Symbol

SLC16A2

contributors: mct - updated : 24-03-2010

HGNC name	solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
HGNC id	10923

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AHDS Allan-Herndon-Dudley syndrome DUPXQ13 chromosome Xq13.2–13.3 duplication MCT8D monocarboxylate transporter 8 deficiency
Location	Xq13.2      Physical location : 73.641.084 - 73.753.752
Synonym name	solute carrier family 16 (monocarboxylic acid transporters), member 2
	X-linked PEST-containing transporter
	solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)
Synonym symbol(s)	DXS128E, MCT7, XPCT, DXS128, MCT8

DNA

TYPE	functioning gene
STRUCTURE	112.67 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - DXS559 - OGT - DXS131 - DXS162 - RPS4X - CITED1 - DXS227 - NAP1L2 - CDX4 - CHIC1 - XIST - JPX - FTX FTX - ZCCHC13 - SLC16A2 - DXS441 - DXS171 - DXS347 - DXS325 - DXS356 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006517 6 - 4396 NP_006508 - 613 - 2008 18668440

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Homo sapiens Nervous brain       highly Homo sapiens   brain limbic system hippocampus   highly Homo sapiens   brain forebrain cerebral cortex     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve hydrophobic transmembrane spanning segments
	a large cytoplasmic loop between TM6 and TM7 and
	a N terminal PEST domain

HOMOLOGY

interspecies

homolog to murine Slc16a2

Homologene

FAMILY	major facilitator superfamily
	monocarboxylate porter family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	mediating movement of lactate and pyruvate across membranes
	involved in the transport of triiodothyronine into neurons, very active and specific thyroid hormone transporter
	with SLC16A10, facilitate iodothyronine uptake as well as efflux
	may play an important role in the transport of thyroid hormone in the brain, which is essential for the crucial action of the hormone during brain development
	may be important to modulate thyroid hormone effects on osteoblast differentiation and on bone development and metabolism
	hypoxia stimulates lactate release and modulates monocarboxylate transporter (SLC16A1, SLC16A2, and SLC16A4) expression in human adipocytes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	monocarboxylate transporter

PATHWAY

metabolism

monocarbon

signaling

a component

INTERACTION

DNA

RNA

small molecule	other,
	proton linked

protein

PTTG1IP binds and alters the subcellular localization of SLC16A2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCT8D , AHDS , DUPXQ13

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS