SLC22A4 (solute carrier family 22 member 4)

2011-07-01 Affiliation

Identity

HGNC

SLC22A4

LOCATION

5q31.1

LOCUSID

6583

ALIAS

DFNB60,OCTN1

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: 6583
MIM: 604190
HGNC: 10968
Ensembl: ENSG00000197208

Variants:

dbSNP: 6583
ClinVar: 6583
TCGA: ENSG00000197208
COSMIC: SLC22A4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000197208	ENST00000200652	Q9H015

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

Pathways

Pathway	Source	External ID
Choline metabolism in cancer	KEGG	hsa05231
Choline metabolism in cancer	KEGG	ko05231
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	REACTOME	R-HSA-425366
Organic cation/anion/zwitterion transport	REACTOME	R-HSA-549132
Organic cation transport	REACTOME	R-HSA-549127

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA10804	imatinib	Chemical	ClinicalAnnotation	associated	PD	22875622, 23127916
PA151958383	Gastrointestinal Stromal Tumors	Disease	ClinicalAnnotation	associated	PD	22875622, 23127916
PA443890	Diabetes Mellitus, Type 2	Disease	VariantAnnotation	not associated	PD
PA446171	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	Disease	ClinicalAnnotation	associated	PD	22875622, 23127916
PA450395	metformin	Chemical	VariantAnnotation	not associated	PD

References

Pubmed ID	Year	Title	Citations
15107849	2004	Functional variants of OCTN cation transporter genes are associated with Crohn disease.	153
14608356	2003	An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.	135
17609683	2008	Effect of genetic variation in the organic cation transporter 1, OCT1, on metformin pharmacokinetics.	122
15795384	2005	Discovery of the ergothioneine transporter.	96
19656490	2009	Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.	77
19536068	2009	The effects of genetic polymorphisms in the organic cation transporters OCT1, OCT2, and OCT3 on the renal clearance of metformin.	68
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
15883854	2005	Ethnic differences in allele frequency of autoimmune-disease-associated SNPs.	60
17786191	2007	rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.	44
17786191	2007	rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.	44

Citation

Dessen P

SLC22A4 (solute carrier family 22 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2011-07-01

Online version: http://atlasgeneticsoncology.org/gene/52522/slc22a4