SLC16A12

Summary

SLC16A12 (solute carrier family 16 member 12, HGNC:23094) is a protein-coding gene on chromosome 10q23.31, encoding Monocarboxylate transporter 12 (Q6ZSM3). Functions as a transporter for creatine and as well for its precursor guanidinoacetate.

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.

Source: NCBI Gene 387700 — RefSeq curated summary.

At a glance

• Gene–disease (curated): juvenile cataract-microcornea-renal glucosuria syndrome (Strong, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 145 total — 1 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 5
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_213606

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23094
Approved symbol	SLC16A12
Name	solute carrier family 16 member 12
Location	10q23.31
Locus type	gene with protein product
Status	Approved
Aliases	MCT12, CRT2
Ensembl gene	ENSG00000152779
Ensembl biotype	protein_coding
OMIM	611910
Entrez	387700

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 22 protein_coding

ENST00000371790, ENST00000475682, ENST00000899673, ENST00000899674, ENST00000899675, ENST00000899676, ENST00000899677, ENST00000899678, ENST00000899679, ENST00000899680, ENST00000899681, ENST00000899682, ENST00000899683, ENST00000899684, ENST00000899685, ENST00000899686, ENST00000924870, ENST00000924871, ENST00000924872, ENST00000924873, ENST00000951865, ENST00000951866

RefSeq mRNA: 1 — MANE Select: NM_213606 NM_213606

CCDS: CCDS7404

Canonical transcript exons

ENST00000371790 — 8 exons

Exon	Start	End
ENSE00001007082	89436060	89436319
ENSE00001364295	89535442	89535594
ENSE00001375878	89534501	89534640
ENSE00001423643	89430299	89433326
ENSE00002432671	89443756	89443859
ENSE00002437367	89441108	89441251
ENSE00002521451	89438604	89439183
ENSE00002732467	89462379	89462624

Expression profiles

Bgee: expression breadth ubiquitous, 119 present calls, max score 88.87.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8166 / max 92.1172, expressed in 233 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110591	0.3038	118
110592	0.2336	101
110595	0.1092	54
110593	0.0656	34
110596	0.0635	25
110594	0.0409	24

Top tissues by expression

132 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	88.87	gold quality
adult mammalian kidney	UBERON:0000082	88.28	gold quality
pancreas	UBERON:0001264	87.15	gold quality
islet of Langerhans	UBERON:0000006	85.54	gold quality
kidney	UBERON:0002113	85.44	gold quality
metanephros cortex	UBERON:0010533	83.94	gold quality
placenta	UBERON:0001987	83.15	gold quality
tibial nerve	UBERON:0001323	79.58	gold quality
cortex of kidney	UBERON:0001225	79.18	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.55	gold quality
apex of heart	UBERON:0002098	75.19	gold quality
heart left ventricle	UBERON:0002084	74.65	gold quality
right atrium auricular region	UBERON:0006631	74.36	gold quality
right lung	UBERON:0002167	73.48	gold quality
heart	UBERON:0000948	73.35	gold quality
left lobe of thyroid gland	UBERON:0001120	72.50	gold quality
right lobe of thyroid gland	UBERON:0001119	72.47	gold quality
thyroid gland	UBERON:0002046	71.54	gold quality
thymus	UBERON:0002370	70.55	silver quality
sural nerve	UBERON:0015488	70.50	gold quality
right uterine tube	UBERON:0001302	70.01	gold quality
quadriceps femoris	UBERON:0001377	69.42	gold quality
adenohypophysis	UBERON:0002196	68.79	gold quality
gastrocnemius	UBERON:0001388	68.32	gold quality
cerebellar vermis	UBERON:0004720	67.75	gold quality
muscle of leg	UBERON:0001383	67.65	gold quality
mucosa of stomach	UBERON:0001199	66.77	gold quality
endometrium	UBERON:0001295	66.33	gold quality
pituitary gland	UBERON:0000007	65.70	gold quality
upper lobe of left lung	UBERON:0008952	65.48	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	2383.48
E-CURD-119	yes	2316.64
E-ANND-3	yes	13.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

106 targeting SLC16A12, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-489-3P	99.80	66.46	839

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 7)

• SLC16A12 is important for lens and kidney homeostasis; its potential role in age-related cataract is discussed. (PMID:18304496)
• The monocarboxylate transporter SLC16A12 may contribute to age-related cataract. Sequences within the 5’UTR modulate translational efficiency with pathogenic consequences. (PMID:20181839)
• study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels. (PMID:23578822)
• our data indicate that MCT12 functions as a basolateral exit pathway for creatine in the proximal tubule. Heterozygous mutation of MCT12 affects systemic levels and renal handling of guanidinoacetate, possibly through an indirect mechanism. Furthermore, our data reveal a digenic syndrome in the index family, with simultaneous MCT12 and SGLT2 mutation. Thus, glucosuria is not part of the MCT12 mutation syndrome (PMID:26376857)
• We screened the coding exons of the gene SLC16A12 in 877 patients. Their impact on creatine transport was tested in Xenopus laevis oocytes and human HEK293T cells. Four variants (p.Ser158Pro, p.Gly205Val, p.Pro395Gln and p.Ser453Arg) displayed severe reduction in both model systems. Our findings provide insight into molecular requirements of creatine transporter. (PMID:29088427)
• Functional characterization of monocarboxylate transporter 12 (SLC16A12/MCT12) as a facilitative creatine transporter. (PMID:32249133)
• Monocarboxylate transporter 12 as a guanidinoacetate efflux transporter in renal proximal tubular epithelial cells. (PMID:32781157)

Cross-species orthologs

18 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc16a12a	ENSDARG00000017773
danio_rerio	slc16a12b	ENSDARG00000089885
mus_musculus	Slc16a12	ENSMUSG00000009378
rattus_norvegicus	Slc16a12	ENSRNOG00000021916
drosophila_melanogaster	Mct1	FBGN0023549
drosophila_melanogaster	CG14196	FBGN0031002
drosophila_melanogaster	CG8051	FBGN0031012
drosophila_melanogaster	Sln	FBGN0033657
drosophila_melanogaster	CG8468	FBGN0033913
drosophila_melanogaster	Targ	FBGN0033955
drosophila_melanogaster	CG13907	FBGN0035173
drosophila_melanogaster	out	FBGN0259834
caenorhabditis_elegans		WBGENE00003986
caenorhabditis_elegans		WBGENE00010834
caenorhabditis_elegans		WBGENE00015273
caenorhabditis_elegans		WBGENE00015676
caenorhabditis_elegans		WBGENE00020168
caenorhabditis_elegans		WBGENE00021227

Paralogs (13): SLC16A8 (ENSG00000100156), SLC16A6 (ENSG00000108932), SLC16A10 (ENSG00000112394), SLC16A7 (ENSG00000118596), SLC16A3 (ENSG00000141526), SLC16A2 (ENSG00000147100), SLC16A1 (ENSG00000155380), SLC16A14 (ENSG00000163053), SLC16A9 (ENSG00000165449), SLC16A4 (ENSG00000168679), SLC16A5 (ENSG00000170190), SLC16A11 (ENSG00000174326), SLC16A13 (ENSG00000174327)

Protein

Protein identifiers

Monocarboxylate transporter 12 — Q6ZSM3 (reviewed: Q6ZSM3)

Alternative names: Creatine transporter 2, Solute carrier family 16 member 12

All UniProt accessions (2): E9PPP4, Q6ZSM3

UniProt curated annotations — full annotation on UniProt →

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 biosynthesis and distribution.

Subunit / interactions. Interacts with isoform 2 of BSG; this interaction is required for its localization to the plasma membrane.

Subcellular location. Cell membrane. Basolateral cell membrane.

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.

Disease relevance. Cataract 47 (CTRCT47) [MIM:612018] A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Creatine uptake is inhibited by carbonyl cyanide 3-chlorophenylhydrazone (CCCP) and by valinomycin.

Similarity. Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.

RefSeq proteins (1): NP_998771* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR050327	Proton-linked_MCT	Family

Pfam: PF07690

Catalyzed reactions (Rhea), 2 shown:

• creatine(in) = creatine(out) (RHEA:73043)
• guanidinoacetate(in) = guanidinoacetate(out) (RHEA:73047)

UniProt features (24 total): transmembrane region 12, mutagenesis site 5, topological domain 2, sequence variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZSM3-F1	80.04	0.51

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (5):

Position	Phenotype
67	abolishes creatine efflux activity. does not affect plasma membrane localization.
95	decreases in the creatine efflux activity. does not affect plasma membrane localization.
329	decreases creatine efflux activity. loss of localization to the plasma membrane.
360	does not affect creatine efflux activity. does not affect plasma membrane localization.
387	does not affect creatine efflux activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 83 (showing top): GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM, GOCC_PLASMA_MEMBRANE_REGION, GOCC_BASAL_PART_OF_CELL, GAUSSMANN_MLL_AF4_FUSION_TARGETS_D_UP, GOMF_MODIFIED_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, CAGTATT_MIR200B_MIR200C_MIR429

GO Biological Process (4): creatine transmembrane transport (GO:0015881), creatinine metabolic process (GO:0046449), transport across blood-brain barrier (GO:0150104), transmembrane transport (GO:0055085)

GO Molecular Function (4): creatine transmembrane transporter activity (GO:0005308), uniporter activity (GO:0015292), transmembrane transporter activity (GO:0022857), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), basolateral plasma membrane (GO:0016323), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
monocarboxylic acid transport	1
modified amino acid transport	1
carboxylic acid transmembrane transport	1
lactam metabolic process	1
vascular transport	1
transport	1
cellular process	1
monocarboxylic acid transmembrane transporter activity	1
creatine transmembrane transport	1
modified amino acid transmembrane transporter activity	1
secondary active transmembrane transporter activity	1
transporter activity	1
transmembrane transport	1
binding	1
membrane	1
cell periphery	1
basal plasma membrane	1
plasma membrane region	1
cellular anatomical structure	1

Protein interactions and networks

STRING

756 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC16A12	SLC6A8	P48029	603
SLC16A12	PANK1	Q8TE04	570
SLC16A12	GJA8	P48165	522
SLC16A12	TMEM114	B3SHH9	518
SLC16A12	GALK1	P51570	506
SLC16A12	C20orf141	Q9NUB4	506
SLC16A12	CRYAA	P02489	505
SLC16A12	BFSP2	Q13515	494
SLC16A12	CRYBB2	P43320	486
SLC16A12	HSF4	Q9ULV5	478
SLC16A12	KLLN	B2CW77	474
SLC16A12	GJA3	Q9Y6H8	462
SLC16A12	CRYGD	P07320	444
SLC16A12	CH25H	O95992	421
SLC16A12	ANKRD33B	A6NCL7	415

IntAct

14 interactions, top by confidence:

A	B	Type	Score
AQP6	SLC16A12	psi-mi:“MI:0915”(physical association)	0.560
GJA8	SLC16A12	psi-mi:“MI:0915”(physical association)	0.560
CD79A	SLC16A12	psi-mi:“MI:0915”(physical association)	0.560
FXYD3	SLC16A12	psi-mi:“MI:0915”(physical association)	0.560
SLC16A12	PSMD14	psi-mi:“MI:0914”(association)	0.350
SLC16A12	AQP6	psi-mi:“MI:0915”(physical association)	0.000
SLC16A12	GJA8	psi-mi:“MI:0915”(physical association)	0.000
SLC16A12	CD79A	psi-mi:“MI:0915”(physical association)	0.000
SLC16A12	FXYD3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): SLC16A12 (Two-hybrid), SLC16A12 (Two-hybrid), SLC16A12 (Two-hybrid), SLC16A12 (Two-hybrid), SLC16A12 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), ERLEC1 (Affinity Capture-MS), C2orf47 (Affinity Capture-MS), MFN2 (Affinity Capture-MS), PSMC6 (Affinity Capture-MS), PSMD13 (Affinity Capture-MS), PSMD14 (Affinity Capture-MS), PSMD4 (Affinity Capture-MS), UBB (Affinity Capture-MS), UGT8 (Affinity Capture-MS)

ESM2 similar proteins: A1DWM3, A4IF94, A4IHK6, A4QN56, A9JTG4, B0UYT5, B1AT66, B2RXV4, G8XYX6, O70324, O75387, P36021, P70187, Q0P5V9, Q0VCM6, Q1LUQ4, Q4LE88, Q569T7, Q5BIZ0, Q5BKX6, Q5J316, Q5RCN7, Q5RF58, Q5VW38, Q5XGZ9, Q68EU6, Q6DBX0, Q6P6V6, Q6PDC8, Q6ZSM3, Q6ZSS7, Q7SXB7, Q8BSM7, Q8CA03, Q8CBH5, Q8CGA3, Q8K1P8, Q8N370, Q8N468, Q8NBP5

Diamond homologs: D4A734, G5E8K6, O15374, O15427, O35308, O35440, O35910, O60669, O70451, O70461, O95907, P53985, P53986, P53987, P53988, P57787, P57788, Q03064, Q17QR6, Q3MHW6, Q503M4, Q5NC32, Q63344, Q66HE2, Q6GM59, Q6P2X9, Q6ZSM3, Q7RTY0, Q8BGC3, Q8CE94, Q8NCK7, Q8R0M8, Q90632, A0LNN5, M0RCI4, O15375, Q5R5M4, Q5ZJU0, Q7RTY1, Q7TM99

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

145 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	102
Likely benign	21
Benign	12

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
784	NM_213606.4(SLC16A12):c.733C>T (p.Gln245Ter)	Pathogenic
191007	NM_213606.4(SLC16A12):c.404C>T (p.Ala135Val)	Likely pathogenic
562311	NM_213606.4(SLC16A12):c.662del (p.Gly221fs)	Likely pathogenic

SpliceAI

1690 predictions. Top by Δscore:

Variant	Effect	Δscore
10:89439052:C:CT	donor_gain	1.0000
10:89439086:T:TA	donor_gain	1.0000
10:89535419:T:TA	donor_gain	1.0000
10:89439018:C:CA	donor_gain	0.9900
10:89439019:C:A	donor_gain	0.9900
10:89535299:AC:A	donor_gain	0.9900
10:89535300:CC:C	donor_gain	0.9900
10:89535321:C:CA	donor_gain	0.9900
10:89535368:T:TA	donor_gain	0.9900
10:89535371:T:TA	donor_gain	0.9900
10:89441252:C:CC	acceptor_gain	0.9800
10:89441255:C:CT	acceptor_gain	0.9800
10:89443857:CAT:C	acceptor_gain	0.9800
10:89462622:CATCT:C	acceptor_loss	0.9800
10:89462624:TC:T	acceptor_loss	0.9800
10:89462625:C:CC	acceptor_gain	0.9800
10:89462625:CTA:C	acceptor_loss	0.9800
10:89462626:T:G	acceptor_loss	0.9800
10:89463493:A:C	acceptor_gain	0.9800
10:89478290:ACT:A	donor_gain	0.9800
10:89478291:CTC:C	donor_gain	0.9800
10:89503862:A:AC	donor_gain	0.9800
10:89535297:GCAC:G	donor_loss	0.9800
10:89535298:CACCC:C	donor_loss	0.9800
10:89535299:A:AC	donor_gain	0.9800
10:89535299:ACCC:A	donor_loss	0.9800
10:89535300:C:CC	donor_gain	0.9800
10:89439086:TCCTG:T	donor_gain	0.9700
10:89439136:TGCCA:T	donor_gain	0.9700
10:89443755:CCA:C	donor_gain	0.9700

AlphaMissense

3331 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:89439128:G:C	F168L	0.998
10:89439128:G:T	F168L	0.998
10:89439130:A:G	F168L	0.998
10:89436073:G:C	S425R	0.996
10:89436073:G:T	S425R	0.996
10:89436075:T:G	S425R	0.996
10:89439177:C:T	G152E	0.995
10:89439178:C:G	G152R	0.994
10:89439178:C:T	G152R	0.994
10:89439087:C:T	G182E	0.993
10:89441192:C:G	G122R	0.993
10:89441194:C:T	G121D	0.993
10:89438637:C:T	G332D	0.991
10:89439075:C:T	G186D	0.991
10:89439076:C:G	G186R	0.991
10:89441160:G:C	S132R	0.991
10:89441160:G:T	S132R	0.991
10:89441162:T:G	S132R	0.991
10:89441191:C:T	G122D	0.991
10:89441195:C:G	G121R	0.991
10:89433256:A:C	S453R	0.990
10:89433256:A:T	S453R	0.990
10:89433258:T:G	S453R	0.990
10:89439001:C:G	G211R	0.990
10:89439001:C:T	G211R	0.990
10:89439108:G:T	A175D	0.990
10:89436197:C:T	G384D	0.989
10:89436195:A:C	Y385D	0.988
10:89439129:A:G	F168S	0.988
10:89439171:G:T	A154E	0.988

dbSNP variants (sampled 300 via entrez): RS1000047068 (10:89476016 C>T), RS1000053286 (10:89448090 C>T), RS1000064270 (10:89456676 A>G), RS1000131976 (10:89450606 G>A,T), RS1000184741 (10:89474788 T>A,C,G), RS1000199777 (10:89543701 G>T), RS1000218097 (10:89557068 G>A,T), RS1000225569 (10:89438550 C>A), RS1000226464 (10:89508812 A>G), RS1000231673 (10:89502422 G>A), RS1000233372 (10:89464705 T>C), RS1000267739 (10:89550669 T>C), RS1000296273 (10:89470826 A>G,T), RS1000320921 (10:89508622 G>A,T), RS1000363192 (10:89434912 C>T)

Disease associations

OMIM: gene MIM:611910 | disease phenotypes: MIM:612018

GenCC curated gene-disease

Disease	Classification	Inheritance
juvenile cataract-microcornea-renal glucosuria syndrome	Strong	Autosomal dominant

Mondo (2): juvenile cataract-microcornea-renal glucosuria syndrome (MONDO:0012786), coloboma (MONDO:0001476)

Orphanet (2): Juvenile cataract-microcornea-renal glucosuria syndrome (Orphanet:247794), OBSOLETE: Ocular coloboma (Orphanet:194)

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000482	Microcornea
HP:0000518	Cataract
HP:0003076	Glycosuria
HP:0003621	Juvenile onset

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST010796_3067	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_3068	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3069	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-09
GCST010796_3070	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_3071	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_3072	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004327	electrocardiography

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
C567434	Cataract, Juvenile, With Microcornea And Glucosuria (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC16 family of monocarboxylate transporters

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
chloropicrin	increases expression	2
Cadmium	decreases expression, increases abundance	2
Rifampin	decreases expression, increases expression	2
Aflatoxin B1	decreases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
methyleugenol	decreases expression	1
bisphenol A	increases expression	1
terbufos	increases methylation	1
nickel sulfate	decreases expression	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
ICG 001	increases expression	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Bilirubin	decreases expression	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Fonofos	increases methylation	1
Endosulfan	decreases reaction, decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
Parathion	increases methylation	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4RU	HuH7-SLC16A12-KO-c1	Cancer cell line	Male
CVCL_D4RV	HuH7-SLC16A12-KO-c9	Cancer cell line	Male

Clinical trials (associated diseases)

4 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00368004	Not specified	TERMINATED	Family Studies of Uveal Coloboma
NCT01778543	Not specified	RECRUITING	Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
NCT04833361	Not specified	COMPLETED	Potential Environmental Causes of Uveal Coloboma
NCT06293560	Not specified	RECRUITING	Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children