SLC29A3 (solute carrier family 29 member 3)

2010-09-01 Affiliation

Identity

HGNC

SLC29A3

LOCATION

10q22.1

LOCUSID

55315

ALIAS

ENT3,HCLAP,HJCD,PHID

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: 55315
MIM: 612373
HGNC: 23096
Ensembl: ENSG00000198246

Variants:

dbSNP: 55315
ClinVar: 55315
TCGA: ENSG00000198246
COSMIC: SLC29A3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000198246	ENST00000373189	Q9BZD2
ENSG00000198246	ENST00000479577	A0A2R8YDR8
ENSG00000198246	ENST00000642198	A0A2R8Y5U2
ENSG00000198246	ENST00000642772	A0A2R8Y4I0
ENSG00000198246	ENST00000643042	A0A2R8Y863
ENSG00000198246	ENST00000643619	A0A2R8YDA4
ENSG00000198246	ENST00000643752	A0A2R8Y5R8
ENSG00000198246	ENST00000644088	A0A2R8Y4I0
ENSG00000198246	ENST00000644591	A0A2R8Y4B7
ENSG00000198246	ENST00000644895	A0A2R8Y4B7
ENSG00000198246	ENST00000645345	A0A2R8YGC2
ENSG00000198246	ENST00000647524	A0A2R8Y657

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA443622	Carcinoma, Non-Small-Cell Lung	Disease	ClinicalAnnotation	associated		PD
PA449748	gemcitabine	Chemical	ClinicalAnnotation	associated		PD

References

Pubmed ID	Year	Title	Citations
15701636	2005	Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.	69
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
19164483	2009	Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3.	37
18940313	2008	The H syndrome is caused by mutations in the nucleoside transporter hENT3.	30
20140240	2010	Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.	27
22875837	2012	Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.	26
20595384	2010	Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.	23
20392501	2010	Contribution of adenosine related genes to the risk of depression with disturbed sleep.	20
19336477	2009	SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.	18
22238637	2012	A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.	9

Citation

Dessen P

SLC29A3 (solute carrier family 29 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-09-01

Online version: http://atlasgeneticsoncology.org/gene/51657/slc29a3