SLC16A12 (solute carrier family 16 member 12)

Gene

• Entrez ID: 387700
• Gene name: Solute carrier family 16 member 12
• Gene symbol: SLC16A12
• Synonyms: CJMG, CRT2, CTRCT47, MCT12
• Chromosome: 10
• Chromosome location: 10q23.31
• Summary: This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909386	G>A	Pathogenic	Stop gained, coding sequence variant
rs786205460	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1564568546	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1352791	hsa-miR-106a	CLIP-seq
MIRT1352792	hsa-miR-106b	CLIP-seq
MIRT1352793	hsa-miR-1245b-5p	CLIP-seq
MIRT1352794	hsa-miR-1294	CLIP-seq
MIRT1352795	hsa-miR-141	CLIP-seq
MIRT1352796	hsa-miR-150	CLIP-seq
MIRT1352797	hsa-miR-17	CLIP-seq
MIRT1352798	hsa-miR-1976	CLIP-seq
MIRT1352799	hsa-miR-200a	CLIP-seq
MIRT1352800	hsa-miR-20a	CLIP-seq
MIRT1352801	hsa-miR-20b	CLIP-seq
MIRT1352802	hsa-miR-219-5p	CLIP-seq
MIRT1352803	hsa-miR-298	CLIP-seq
MIRT1352804	hsa-miR-302a	CLIP-seq
MIRT1352805	hsa-miR-302b	CLIP-seq
MIRT1352806	hsa-miR-302c	CLIP-seq
MIRT1352807	hsa-miR-302d	CLIP-seq
MIRT1352808	hsa-miR-302e	CLIP-seq
MIRT1352809	hsa-miR-3142	CLIP-seq
MIRT1352810	hsa-miR-3199	CLIP-seq
MIRT1352811	hsa-miR-372	CLIP-seq
MIRT1352812	hsa-miR-373	CLIP-seq
MIRT1352813	hsa-miR-4258	CLIP-seq
MIRT1352814	hsa-miR-4282	CLIP-seq
MIRT1352815	hsa-miR-4312	CLIP-seq
MIRT1352816	hsa-miR-4316	CLIP-seq
MIRT1352817	hsa-miR-433	CLIP-seq
MIRT1352818	hsa-miR-4438	CLIP-seq
MIRT1352819	hsa-miR-4643	CLIP-seq
MIRT1352820	hsa-miR-4695-3p	CLIP-seq
MIRT1352821	hsa-miR-4707-3p	CLIP-seq
MIRT1352822	hsa-miR-4717-3p	CLIP-seq
MIRT1352823	hsa-miR-4731-5p	CLIP-seq
MIRT1352824	hsa-miR-4735-5p	CLIP-seq
MIRT1352825	hsa-miR-4775	CLIP-seq
MIRT1352826	hsa-miR-4782-3p	CLIP-seq
MIRT1352827	hsa-miR-4794	CLIP-seq
MIRT1352828	hsa-miR-4802-3p	CLIP-seq
MIRT1352829	hsa-miR-489	CLIP-seq
MIRT1352830	hsa-miR-5095	CLIP-seq
MIRT1352831	hsa-miR-512-3p	CLIP-seq
MIRT1352832	hsa-miR-514	CLIP-seq
MIRT1352833	hsa-miR-514b-3p	CLIP-seq
MIRT1352834	hsa-miR-519d	CLIP-seq
MIRT1352835	hsa-miR-520a-3p	CLIP-seq
MIRT1352836	hsa-miR-520b	CLIP-seq
MIRT1352837	hsa-miR-520c-3p	CLIP-seq
MIRT1352838	hsa-miR-520d-3p	CLIP-seq
MIRT1352839	hsa-miR-520e	CLIP-seq
MIRT1352840	hsa-miR-520g	CLIP-seq
MIRT1352841	hsa-miR-520h	CLIP-seq
MIRT1352842	hsa-miR-590-3p	CLIP-seq
MIRT1352843	hsa-miR-640	CLIP-seq
MIRT1352844	hsa-miR-642b	CLIP-seq
MIRT1352845	hsa-miR-93	CLIP-seq
MIRT1352824	hsa-miR-4735-5p	CLIP-seq
MIRT1352825	hsa-miR-4775	CLIP-seq
MIRT1352829	hsa-miR-489	CLIP-seq
MIRT1352832	hsa-miR-514	CLIP-seq
MIRT1352833	hsa-miR-514b-3p	CLIP-seq
MIRT1352842	hsa-miR-590-3p	CLIP-seq
MIRT2104474	hsa-miR-122	CLIP-seq
MIRT2104475	hsa-miR-1915	CLIP-seq
MIRT2104476	hsa-miR-3194-3p	CLIP-seq
MIRT1352810	hsa-miR-3199	CLIP-seq
MIRT2104477	hsa-miR-3622b-5p	CLIP-seq
MIRT1352813	hsa-miR-4258	CLIP-seq
MIRT1352818	hsa-miR-4438	CLIP-seq
MIRT1352821	hsa-miR-4707-3p	CLIP-seq
MIRT1352824	hsa-miR-4735-5p	CLIP-seq
MIRT1352825	hsa-miR-4775	CLIP-seq
MIRT1352827	hsa-miR-4794	CLIP-seq
MIRT1352829	hsa-miR-489	CLIP-seq
MIRT1352830	hsa-miR-5095	CLIP-seq
MIRT1352832	hsa-miR-514	CLIP-seq
MIRT1352833	hsa-miR-514b-3p	CLIP-seq
MIRT1352842	hsa-miR-590-3p	CLIP-seq
MIRT2104474	hsa-miR-122	CLIP-seq
MIRT2104475	hsa-miR-1915	CLIP-seq
MIRT2328894	hsa-miR-199a-5p	CLIP-seq
MIRT2328895	hsa-miR-199b-5p	CLIP-seq
MIRT2328896	hsa-miR-24	CLIP-seq
MIRT2104477	hsa-miR-3622b-5p	CLIP-seq
MIRT2328897	hsa-miR-3664-3p	CLIP-seq
MIRT2328898	hsa-miR-411	CLIP-seq
MIRT2328899	hsa-miR-4284	CLIP-seq
MIRT2328900	hsa-miR-4317	CLIP-seq
MIRT1352817	hsa-miR-433	CLIP-seq
MIRT1352818	hsa-miR-4438	CLIP-seq
MIRT1352824	hsa-miR-4735-5p	CLIP-seq
MIRT2328901	hsa-miR-4764-3p	CLIP-seq
MIRT2328902	hsa-miR-4772-3p	CLIP-seq
MIRT1352825	hsa-miR-4775	CLIP-seq
MIRT2328903	hsa-miR-4793-5p	CLIP-seq
MIRT1352830	hsa-miR-5095	CLIP-seq
MIRT2328904	hsa-miR-510	CLIP-seq
MIRT1352842	hsa-miR-590-3p	CLIP-seq
MIRT1352843	hsa-miR-640	CLIP-seq
MIRT2328896	hsa-miR-24	CLIP-seq
MIRT2104477	hsa-miR-3622b-5p	CLIP-seq
MIRT2328899	hsa-miR-4284	CLIP-seq
MIRT2328902	hsa-miR-4772-3p	CLIP-seq
MIRT2459496	hsa-miR-144	CLIP-seq
MIRT1352819	hsa-miR-4643	CLIP-seq
MIRT1352822	hsa-miR-4717-3p	CLIP-seq
MIRT1352828	hsa-miR-4802-3p	CLIP-seq
MIRT1352844	hsa-miR-642b	CLIP-seq
MIRT2623275	hsa-miR-129-5p	CLIP-seq
MIRT2623276	hsa-miR-33a	CLIP-seq
MIRT2623277	hsa-miR-33b	CLIP-seq
MIRT2328898	hsa-miR-411	CLIP-seq
MIRT1352813	hsa-miR-4258	CLIP-seq
MIRT2623278	hsa-miR-450b-5p	CLIP-seq
MIRT1352821	hsa-miR-4707-3p	CLIP-seq
MIRT1352824	hsa-miR-4735-5p	CLIP-seq
MIRT1352825	hsa-miR-4775	CLIP-seq
MIRT1352827	hsa-miR-4794	CLIP-seq
MIRT2623279	hsa-miR-507	CLIP-seq
MIRT2623280	hsa-miR-557	CLIP-seq
MIRT1352842	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005308	Function	Creatine transmembrane transporter activity	IDA	23578822, 29088427
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IDA	21778275, 29088427
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	23578822
GO:0008028	Function	Monocarboxylic acid transmembrane transporter activity	IBA	21873635
GO:0015293	Function	Symporter activity	IEA
GO:0015718	Process	Monocarboxylic acid transport	IBA	21873635
GO:0015881	Process	Creatine transmembrane transport	IDA	23578822, 29088427
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	ISS	26376857
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653

Other IDs

• MIM: 611910
• HGNC: 23094
• e!Ensembl: ENSG00000152779

Protein

• UniProt ID: Q6ZSM3
• Protein name: Monocarboxylate transporter 12 (MCT 12) (Creatine transporter 2) (CRT2) (Solute carrier family 16 member 12)
• Protein function: Functions as a transporter for creatine and as well for its precursor guanidinoacetate. Transport of creatine and GAA is independent of resting membrane potential and extracellular Na(+), Cl(-), or pH. Contributes to the process of creatine bios
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	55 → 359	Major Facilitator Superfamily	Family
  PF07690	MFS_1	284 → 496	Major Facilitator Superfamily	Family

• Sequence:

  MPSGSHWTANSSKIITWLLEQPGKEEKRKTMAKVNRARSTSPPDGGWGWMIVAGCFLVTI
  CTRAVTRCISIFFVEFQTYFTQDYAQTAWIHSIVDCVTMLCAPLGSVVSNHLSCQVGIML
  GGLLASTGLILSSFATSLKHLYLTLGVLTGLGFALCYSPAIAMVGKYFSRRKALAYGIAM
  SGSGIGTFILAPVVQLLIEQFSWRGALLILGGFVLNLCVCGALMRPITLKEDHTTPEQNH
  VCRTQKEDIKRVSPYSSLTKEWAQTCLCCCLQQEYSFLLMSDFVVLAVSVLFMAYGCSPL
  FVYLVPYALSVGVSHQQAAFLMSILGVIDIIGNITFGWLTDRRCLKNYQYVCYLFAVGMD
  GLCYLCLPMLQSLPLLVPFSCTFGYFDGAYVTLIPVVTTEIVGTTSLSSALGVVYFLHAV
  PYLVSPPIAGRLVDTTGSYTAAFLLCGFSMIFSSVLLGFARLIKRMRKTQLQFIAKESDP
  KLQLWTNGSVAYSVARELDQKHGEPVATAVPGYSLT

• Sequence length: 516

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract, CATARACT 47	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692	18304496, 20181839
Cataract-microcornea-renal glucosuria syndrome	Juvenile cataract-microcornea-renal glucosuria syndrome	rs121909386

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia areata	Alopecia Areata		22027810
Cataract with microcornea and glucosuria	Cataract, Juvenile, With Microcornea And Glucosuria
Microcornea	Microcornea
Nephritis	Nephritis, Interstitial, Nephritis, Tubulointerstitial