SLC29A4 (solute carrier family 29 member 4)

2008-09-01 Affiliation

Identity

HGNC

SLC29A4

LOCATION

7p22.1

LOCUSID

222962

ALIAS

ENT4,PMAT

FUSION GENES

Show Gene Fusions

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: 222962
MIM: 609149
HGNC: 23097
Ensembl: ENSG00000164638

Variants:

dbSNP: 222962
ClinVar: 222962
TCGA: ENSG00000164638
COSMIC: SLC29A4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000164638	ENST00000297195	Q7RTT9
ENSG00000164638	ENST00000396872	Q7RTT9
ENSG00000164638	ENST00000406453	Q7RTT9
ENSG00000164638	ENST00000434816	C9IYM7
ENSG00000164638	ENST00000444741	C9JZA2

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
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of vitamins, nucleosides, and related molecules	REACTOME	R-HSA-425397
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane	REACTOME	R-HSA-83936

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA450395	metformin	Chemical	Pathway	associated			22722338

References

Pubmed ID	Year	Title	Citations
37458617	2023	PMAT variant rs3889348 is associated with metformin-induced gastrointestinal among Chinese Type 2 diabetes patients.	0
37458617	2023	PMAT variant rs3889348 is associated with metformin-induced gastrointestinal among Chinese Type 2 diabetes patients.	0
34551672	2022	Clinically significant findings of high-risk mutations in human SLC29A4 gene associated with diabetes mellitus type 2 in Pakistani population.	4
34551672	2022	Clinically significant findings of high-risk mutations in human SLC29A4 gene associated with diabetes mellitus type 2 in Pakistani population.	4
30885951	2019	Variation in the Plasma Membrane Monoamine Transporter (PMAT) (Encoded by SLC29A4) and Organic Cation Transporter 1 (OCT1) (Encoded by SLC22A1) and Gastrointestinal Intolerance to Metformin in Type 2 Diabetes: An IMI DIRECT Study.	31
31537831	2019	Bidirectional transport of 2-chloroadenosine by equilibrative nucleoside transporter 4 (hENT4): Evidence for allosteric kinetics at acidic pH.	4
30885951	2019	Variation in the Plasma Membrane Monoamine Transporter (PMAT) (Encoded by SLC29A4) and Organic Cation Transporter 1 (OCT1) (Encoded by SLC22A1) and Gastrointestinal Intolerance to Metformin in Type 2 Diabetes: An IMI DIRECT Study.	31
31537831	2019	Bidirectional transport of 2-chloroadenosine by equilibrative nucleoside transporter 4 (hENT4): Evidence for allosteric kinetics at acidic pH.	4
24471494	2014	Predominant role of plasma membrane monoamine transporters in monoamine transport in 1321N1, a human astrocytoma-derived cell line.	13
24471494	2014	Predominant role of plasma membrane monoamine transporters in monoamine transport in 1321N1, a human astrocytoma-derived cell line.	13
21822668	2012	Nucleoside transporters are widely expressed in ovarian carcinoma effusions.	8
22562044	2012	Residue Ile89 in human plasma membrane monoamine transporter influences its organic cation transport activity and sensitivity to inhibition by dilazep.	2
21822668	2012	Nucleoside transporters are widely expressed in ovarian carcinoma effusions.	8
22562044	2012	Residue Ile89 in human plasma membrane monoamine transporter influences its organic cation transport activity and sensitivity to inhibition by dilazep.	2
20392501	2010	Contribution of adenosine related genes to the risk of depression with disturbed sleep.	23

Citation

Dessen P

SLC29A4 (solute carrier family 29 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/50322