SLC16A12 - solute carrier family 16 member 12 Gene

Homo sapiens

Also known as CJMG; CRT2; MCT12; CTRCT47

Gene ID: 387700 | Gene type: protein coding

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

SLC16A12 Protein Structure

MFS_1

0
100
200
300
400
486 a.a.

Protein Preferred Names

Protein Names

monocarboxylate transporter 12

creatine transporter 2

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

Bioactive Molecules (1)

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

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