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FLASH GENE

Symbol

SLC16A12

contributors: mct/npt - updated : 26-10-2018

HGNC name	solute carrier family 16 (monocarboxylic acid transporters), member 12
HGNC id	23094

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CJMG juvenile cataract, microcornea and renal glycosuria
Location	10q23.31      Physical location : 91.190.050 - 91.295.313
Synonym name	monocarboxylate transporter 12
	creatine transporter 2
Synonym symbol(s)	MCT12, CJMG, DKFZp686E188, CRT2

DNA

TYPE	functioning gene
STRUCTURE	105.74 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_213606 8 - 4622 NP_998771 - 516 - 2013 23578822

EXPRESSION

Type	restricted

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 Endocrine adrenal gland           pancreas         Urinary kidney tubule convoluted tubule proximal tubule highly Homo sapiens Visual eye retina     highly Homo sapiens   eye lens       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	12 transmembrane domains (TMDs)
	intracellular N- and C-termini and a large intracellular loop between TMDs 6 and 7

HOMOLOGY

Homologene

FAMILY	major facilitator superfamily
	monocarboxylate porter family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	proton-linked monocarboxylate transporter, catalyzing the rapid transport across the plasma membrane of many monocarboxylates
	playing an important for lens and kidney homeostasis
	mediates creatine transport, and may function as a guanidinoacetate transporter
	functions as a basolateral exit pathway for creatine in the proximal tubule

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CJMG

Susceptibility

to age-related cataract

Variant & Polymorphism other	alterations of the 5prime untranslated region of SLC16A12 lead to age-related cataract

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS