SLC16A12 - solute carrier family 16 member 12 Gene

Also Known as CJMG; CRT2; MCT12; CTRCT47

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 387700

About SLC16A12

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:89,430,299-89,556,704 (from NCBI)

This gene has 2 transcripts (splice variants), 302 orthologues, 13 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 36.5), placenta (RPKM 6.6) and 1 other tissue.

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]

SLC16A12 Products (1)

mRNA	Protein	Name
NM_213606.4	NP_998771.3	monocarboxylate transporter 12

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables creatine transmembrane transporter activity	IDA IDA: Inferred from direct assay	23578822	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables uniporter activity	IDA IDA: Inferred from direct assay	32249133	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in creatine transmembrane transport	IDA IDA: Inferred from direct assay	23578822	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	21778275	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC16A12 Protein Structure

MFS_1

0
100
200
300
400
486 a.a.

Protein Preferred Names	Protein Names
monocarboxylate transporter 12	creatine transporter 2

SLC16A12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC16A12	Q6ZSM3	FXYD3	Homo sapiens	Q14802-3	Y2H Array	32296183
Intra	SLC16A12	Q6ZSM3	FXYD3	Homo sapiens	Q14802-3	Y2H Prey Pooling	32296183
Intra	SLC16A12	Q6ZSM3	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	SLC16A12	Q6ZSM3	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	SLC16A12	Q6ZSM3	GJA8	Homo sapiens	P48165	Y2H Prey Pooling	32296183
Intra	SLC16A12	Q6ZSM3	GJA8	Homo sapiens	P48165	Y2H Array	32296183
Intra	SLC16A12	Q6ZSM3	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	SLC16A12	Q6ZSM3	CD79A	Homo sapiens	P11912	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cataract 47	CTRCT47 Juvenile Cataract-Microcornea-Renal Glucosuria Syndrome Cataract, Juvenile, With Microcornea And Glucosuria Cataract, Juvenile, With Microcornea Cataract 47, Juvenile, With Microcornea Cataract, Juvenile, With Microcornea And Glucosuria, Formerly Cjmg, Formerly Juvenile Cataract-Microcornea-Renal Glycosuria Syndrome Cjmg Cataract, Type 47, Juvenile, With Microcornea
Renal Glucosuria	Renal Glycosuria Familial Renal Glucosuria GLYS Glys1 Glycosuria, Renal Glucosuria, Renal Renal Diabetes Familial Renal Glycosuria Sglt2 Deficiency Gly Diabetes Renal
Hypotrichosis 4	HYPT4 Marie Unna Hereditary Hypotrichosis 1 Muhh1 Hypotrichosis, Marie Unna Type, 1 Hypotrichosis Marie Unna 1 Marie Unna Hereditary Hypotrichosis Type 1 Hypotrichosis, Hereditary, Marie Unna Type, 1 Hypotrichosis, Type 4
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Galactosemia Ii	Galactokinase Deficiency Galk Deficiency Galactokinase Deficiency With Cataracts Deficiency Of Galactokinase GALAC2 Galk-D Galactokinase Deficiency Galactosemia Galactosemia 2 Galactosemia Type 2 Hereditary Galactokinase Deficiency Galactokinase Deficiency, Cataract Galactosemias Galk - [Galactokinase Deficiency]
Cataract 28	CTRCT28 Cataract, Age-Related Cortical, 1 Arcc1 Cataract 28, Age-Related Cortical, Susceptibility To Cataract 28, Age-Related Cortical Age-Related Cortical Cataract 1
Axenfeld-Rieger Syndrome, Type 3	Axenfeld-Rieger Syndrome Type 3 RIEG3 Anterior Chamber Cleavage Syndrome Anterior Segment Mesenchymal Dysgenesis Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss Rieger Syndrome Type 3 Axenfeld-Rieger Anomaly Rieger Syndrome, Type 3 Axenfeld-Rieger Syndrome 3 Axenfeld Anomaly Rieger Anomaly Rieger Syndrome Rieger Eye Malformation Sequence
Ayme-Gripp Syndrome	AYGRP Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation Aymé-Gripp Syndrome Fine-Lubinsky Syndrome Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13021	SLC16A12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC16A12	RGD	RGD:1311468
Bos taurus	SLC16A12	VGNC	VGNC:34686
Macaca mulatta	SLC16A12	VGNC	VGNC:77559
Felis catus	SLC16A12	VGNC	VGNC:65206
Canis familiaris	SLC16A12	VGNC	VGNC:46238
Mus musculus	SLC16A12	MGD	MGI:2147716
Others	SLC16A12	NCBI