Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	387700
Gene name	Solute carrier family 16 member 12
Gene symbol	SLC16A12
Synonyms (NCBI Gene)	CJMGCRT2CTRCT47MCT12
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]

Show/Hide all (3)

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

120

Show/Hide all (120)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005308	Function	Creatine transmembrane transporter activity	IDA	23578822, 29088427, 31784090
GO:0005308	Function	Creatine transmembrane transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21778275, 23578822, 29088427, 31784090
GO:0005886	Component	Plasma membrane	IEA
GO:0015292	Function	Uniporter activity	IDA	32249133
GO:0015881	Process	Creatine transmembrane transport	IBA
GO:0015881	Process	Creatine transmembrane transport	IDA	23578822, 29088427, 31784090
GO:0015881	Process	Creatine transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	26376857
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0046449	Process	Creatinine metabolic process	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653

MIM	HGNC	e!Ensembl
611910	23094	ENSG00000152779

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

Tissue specificity

TISSUE SPECIFICITY: Most highly expressed in kidney, followed by retina, lung, heart and testis. Very weakly expressed in brain and liver. Also detected in lens. {ECO:0000269|PubMed:18304496, ECO:0000269|PubMed:23578822}.

Sequence

MPSGSHWTANSSKIITWLLEQPGKEEKRKTMAKVNRARSTSPPDGGWGWMIVAGCFLVTI
CTRAVTRCISIFFVEFQTYFTQDYAQTAWIHSIVDCVTMLCAPLGSVVSNHLSCQVGIML
GGLLASTGLILSSFATSLKHLYLTLGVLTGLGFALCYSPAIAMVGKYFSRRKALAYGIAM
SGSGIGTFILAPVVQLLIEQFSWRGALLILGGFVLNLCVCGALMRPITLKEDHTTPEQNH
VCRTQKEDIKRVSPYSSLTKEWAQTCLCCCLQQEYSFLLMSDFVVLAVSVLFMAYGCSPL
FVYLVPYALSVGVSHQQAAFLMSILGVIDIIGNITFGWLTDRRCLKNYQYVCYLFAVGMD
GLCYLCLPMLQSLPLLVPFSCTFGYFDGAYVTLIPVVTTEIVGTTSLSSALGVVYFLHAV
PYLVSPPIAGRLVDTTGSYTAAFLLCGFSMIFSSVLLGFARLIKRMRKTQLQFIAKESDP
KLQLWTNGSVAYSVARELDQKHGEPVATAVPGYSLT

Sequence length

516

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Juvenile cataract-microcornea-renal glucosuria syndrome	Pathogenic	rs121909386	RCV000000820	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 47	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Developmental cataract	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC16A12-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia Areata	Alopecia Areata	GWASDB_DG	22027810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	28540987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18446232, 25415228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31348313, 37065178, 37689589, 37781030, 39247556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	18304496, 26376857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	20181839, 23578822, 29088427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 47	Cataract	ORPHANET_DG	18304496		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 47	Cataract	GENOMICS_ENGLAND_DG	18304496, 20181839		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	18304496, 26376857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract, Juvenile, With Microcornea And Glucosuria	Cataract with microcornea and glucosuria	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	18446232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18446232, 28540987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31348313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	18304496, 26376857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria, Renal	Glycosuria, Renal	BEFREE	18304496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile cataract-microcornea-renal glucosuria syndrome	Cataract-Microcornea-Renal Glucosuria Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long Qt Syndrome 2	Long qt syndrome	Pubtator	26376857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29978464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18446232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	18304496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18446232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	31577462		★★★★★ ★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	31577462		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC16A12 (solute carrier family 16 member 12)