SLC16A12 (solute carrier family 16 member 12)

2014-11-01 Affiliation

Identity

HGNC

SLC16A12

LOCATION

10q23.31

LOCUSID

387700

ALIAS

CJMG,CRT2,CTRCT47,MCT12

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 387700
MIM: 611910
HGNC: 23094
Ensembl: ENSG00000152779

Variants:

dbSNP: 387700
ClinVar: 387700
TCGA: ENSG00000152779
COSMIC: SLC16A12

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000152779	ENST00000371790	Q6ZSM3
ENSG00000152779	ENST00000475682	E9PPP4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
23578822	2013	The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.	14
18304496	2008	Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.	0
20181839	2010	Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.	0
20181839	2010	Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.	0
26376857	2016	Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.	0
29088427	2017	Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.	0

Citation

Dessen P

SLC16A12 (solute carrier family 16 member 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73290/slc16a12