Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55315
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 29 member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC29A3
Synonyms (NCBI Gene) Gene synonyms aliases
ENT3, HCLAP, HJCD, PHID
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperp
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs780668 C>T Drug-response, benign Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs113542201 C>T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, synonymous variant
rs121912583 G>A Pathogenic Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs121912584 G>A Pathogenic Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs139857136 G>T Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017125 hsa-miR-335-5p Microarray 18185580
MIRT1358331 hsa-miR-1 CLIP-seq
MIRT1358332 hsa-miR-206 CLIP-seq
MIRT1358333 hsa-miR-3179 CLIP-seq
MIRT1358334 hsa-miR-3673 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005337 Function Nucleoside transmembrane transporter activity IBA 21873635
GO:0005337 Function Nucleoside transmembrane transporter activity TAS
GO:0005515 Function Protein binding IPI 25910212
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005765 Component Lysosomal membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612373 23096 ENSG00000198246
Protein
UniProt ID Q9BZD2
Protein name Equilibrative nucleoside transporter 3 (hENT3) (Solute carrier family 29 member 3)
Protein function Uniporter that mediates the facilitative transport of nucleoside across lysosomal and mitochondrial membranes (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Functions as a non-electrogenic Na(+)-independent transporter (Pu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01733 Nucleoside_tran 168 473 Nucleoside transporter Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in both adult and fetal tissues (PubMed:15701636). Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow (PubMed:15701636). Expressed in liver (PubMed:19164483). Lowest levels in brain and heart
Sequence
Sequence length 475
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Alcoholism   Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Iron-Refractory Iron Deficiency Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Autoinflammatory disease Autoinflammatory disorder rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587
View all (32 more)
22875837
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Depressive disorder 20392501 ClinVar
Dysosteosclerosis dysosteosclerosis GenCC
Vitiligo Vitiligo GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 29751792
Diabetes Mellitus Associate 31276222, 37897565
Diabetes Mellitus Transient Neonatal 1 Associate 37897565
Diabetes Mellitus Type 1 Associate 22238637, 31276222, 33947670, 34657628
Dykes Markes Harper syndrome Associate 37897565
Genetic Diseases Inborn Associate 22238637, 37738562, 37767683
Growth Disorders Associate 37897565
Hearing Loss Associate 35732371
Heart Diseases Associate 33947670
Histiocytosis Associate 33284430, 34657628, 37738562, 37767683