Property Summary

NCBI Gene PubMed Count 29
PubMed Score 247.26
PubTator Score 70.21

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
interstitial cystitis -1.100 2.9e-04

Gene RIF (20)

PMID Text
24894595 novel mutation c.401G>A associated with pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome
24535606 SLC29A3 genetic polymorphisms may have a role in overall survival in advanced non-small-cell lung cancer treated with gemcitabine
23406517 Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation in H syndrome with agenesis of the inferior vena cava.
22989030 Homozygous mutation in SLC29A3 in 2 children of consanguineous parents exhibit H syndrome: insulin-dependent diabetes, hyperpigmentation, hepatosplenomegaly, lymphadenopathy, left ventricular hypertrophy, sensorineural hearing loss. [CASE REPORT]
22875837 we describe two unrelated children with DSS associated with autosomal recessive inheritance of variants in SLC29A3.
22653152 Two novel mutations in the SLC29A3 gene were identified: a homozygous splice site mutation IVS1+2T>1 G, and a homozygous missense mutation c.1157G>1 A (p.R386Q) which substituted highly conserved amino acid residue in a transmembrane domain.
22238637 The 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic.
20677642 The genotype (CC, TC, IT) and allele distribution of the ENT3 single nudcleotide polymorphism in the patients with lung cancer was not significantly different compared with that in controls (P > 0.05).
20595384 severe reductions/losses of hENT3 nucleoside transport functions of hENT3 syndrome mutants
20392501 Observational study of gene-disease association. (HuGE Navigator)
20199539 Mutation analysis showed that both parents and one of the three siblings were heterozygous for the mutation and that the mutation was absent in the remaining two siblings as well as in 100 normal control samples from the same ethnic population.
20140240 Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the Faisalabad histiocytosis kindred and in two families reported to have familial Rosai-Dorfman disease.
19889517 analysis of two novel mutations affecting the same amino acid residue of hENT3 in H syndrome [case report]
19581757 Data show that SLC29A3 is expressed in the islet and recessive mutations are likely to result in beta cell failure.
19581757 Observational study of gene-disease association. (HuGE Navigator)
19336477 Five loss-of-function mutations were identified in the SLC29A3 gene in patients with pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.
19164483 These data suggest that cellular localization of hENT3 is cell type dependent and the native transporter is substantially expressed in mitochondria and/or cell surface.
18940313 H syndrome is caused by mutations in the nucleoside transporter hENT3
16385451 Observational study of gene-disease association. (HuGE Navigator)
15701636 broad selectivity, low affinity nucleoside transporter that can also transport adenine

AA Sequence

MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNF      1 - 70
FITAKEYWMFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLT     71 - 140
VILAIFMVITALVKVDTSSWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGT    141 - 210
VSAVASLVDLAASSDVRNSALAFFLTATVFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDS    211 - 280
LSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFITSLIYPAICTNIESLNKGSGSLWTTKFFIPLT    281 - 350
TFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNYQPRVHLKTVVFQSDVYPALLSS    351 - 420
LLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI                   421 - 475
//

Text Mined References (34)

PMID Year Title
24894595 2015 Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.
24535606 2014 Genomic polymorphisms of SLC29A3 associated with overall survival in advanced non-small-cell lung cancer treated with gemcitabine.
23406517 Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation.
23273568 2013 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22989030 2013 An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
22951725 2013 Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
22875837 2012 Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
22653152 2012 Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.
22238637 2012 A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.
21888995 2012 Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
20677642 2010 [Relationship between single nucleotide polymorphism of the equilibrative nucleoside transporter ENT3 and susceptibility to lung cancer].
20619369 Expanding the clinical spectrum of SLC29A3 gene defects.
20595384 2010 Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.
20399510 2010 Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
20392501 2010 Contribution of adenosine related genes to the risk of depression with disturbed sleep.
20199539 2010 H syndrome: novel and recurrent mutations in SLC29A3.
20140240 2010 Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
19889517 2010 The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
19581757 2009 Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes.
19336477 2009 SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
19164483 2009 Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3.
18940313 2008 The H syndrome is caused by mutations in the nucleoside transporter hENT3.
17897319 2007 Integral and associated lysosomal membrane proteins.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
15701636 2005 Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12384580 2002 Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity.
11396612 The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms.