Property Summary

NCBI Gene PubMed Count 29
Grant Count 20
R01 Count 14
Funding $904,078.47
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 0.000

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)
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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.
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