Property Summary

NCBI Gene PubMed Count 50
PubMed Score 79.21
PubTator Score 110.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count P-value
nephrosclerosis 329 3.7e-02
Disease Target Count Z-score Confidence
Kidney disease 397 0.0 2.0
Disease Target Count Z-score Confidence
Nephrolithiasis 31 5.253 2.6
Lysinuric protein intolerance 15 3.684 1.8
Disease Target Count
Cystinuria 18

Expression

  Differential Expression (1)

Disease log2 FC p
nephrosclerosis -1.942 3.7e-02

 OMIM Phenotype (1)

Protein-protein Interaction (1)

Gene RIF (35)

PMID Text
26540609 Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients
26123750 G105R but not R333W mutation found in Iranian cystinuria patients
25964309 Report no association of SLC7A9 mutations with clinical course of disease in cystinuria patients.
25599739 Case Report: novel mutation of SLC7A9 gene in cystinuria.
24045899 We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B).
21255007 In SLC7A9 gene, one large genomic rearrangement and 24 sequence variants are found in cystinuria patients.
20424473 Observational study of gene-disease association. (HuGE Navigator)
20383146 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20383145 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19782624 Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9.
19782624 Observational study of genetic testing. (HuGE Navigator)
19322909 Suggest that amino acid transporters B(0)AT1 and b(0,+)AT are involved in the reabsorption of L-citrulline in the kidney, at least in part, by mediating the apical membrane transport of L-citrulline in renal tubule cells.
18778962 SLC3A1 and SLC7A9 mutations identified in 52 Greek cystinuria patients; in total 14 mutations were identified in SLC3A1 and 12 in SLC7A9.
18778962 Observational study of gene-disease association. (HuGE Navigator)
18752446 Twenty-four novel mutations in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinyuria genes are reported.
17710781 To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs
17701443 a novel splice-acceptor site mutation in the SLC7A9 gene may have a role in cystinuria [case report]
16838140 all carriers of a SLC7A9 mutation manifested cystinuria if their normal allele had non-wild type nucleotides in two or more of the identified polymorphic sites
16609684 Observational study of genotype prevalence. (HuGE Navigator)
16609684 Mutations of SLC7A9 for Japanese cystinuria patients are different from those reported for European and American population.
16138908 SLC3A1 and SLC7A9 mutations may have roles in cystinuria
15818803 gene deletion , codon 423 in cystinuria, type non-1.
15818799 Disease: cystinuria, type non-I.Deletion codon 50.
15635077 Observational study of gene-disease association. (HuGE Navigator)
15635077 Mutational analysis should focus on this gene in inheritance of cytinuria.
14991253 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
14991253 Mutations of this protein have a population-specific distribution among south-east Europeans living in Germany.
14531788 deletions in SLC7A9 in cystinuria
12820697 Observational study of genotype prevalence. (HuGE Navigator)
12820697 Three novel SLC7A9 mutations were identified: two missense mutations (P261L and V330M) and one single base-pair deletion (1009 delA)
12779097 Observational study of gene-disease association. (HuGE Navigator)
12371955 The finding of SLC7A9 mutations in all three subtypes underscores the complex interactions between specific cystinuria genes and other factors influencing cystine excretion.
12239244 Observational study of gene-disease association. (HuGE Navigator)
12234283 in cystinuria, the detection rate for mutations in SLC7A9 in children was 25% in the SLC7A9 gene for non-type I chromosomes.
12167606 a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption

AA Sequence

MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWA      1 - 70
ACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPF     71 - 140
YVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNS    141 - 210
FEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTA    211 - 280
TELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLT    281 - 350
PAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLI    351 - 420
SVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE       421 - 487
//

Text Mined References (51)

PMID Year Title
26540609 2015 Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
26123750 2015 Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
25964309 2015 Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
25599739 2015 Cystinuria in a patient with a novel mutation in SLC7A9 gene.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24586186 2014 Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
24045899 2014 Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
22197932 2011 Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
21912425 2013 A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
21572414 2011 A genome-wide association study of metabolic traits in human urine.
21255007 2012 Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20383146 2010 New loci associated with kidney function and chronic kidney disease.
20383145 2010 Genetic loci influencing kidney function and chronic kidney disease.
19782624 2010 Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
19322909 2009 Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells.
18778962 2008 An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
18752446 2008 Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.
18195088 2008 Amino acid transport across mammalian intestinal and renal epithelia.
17710781 2007 A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.
17701443 2007 LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene.
16838140 2006 Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.
16801163 2006 Cystinuria.
16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
15901826 2005 Metabolic activation-related CD147-CD98 complex.
15818803 2005 Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
15818799 2005 Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
15499206 2004 The molecular basis of cystinuria.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14991253 2004 The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14531788 2003 Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
12820697 2003 Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
12779097 2003 Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12371955 2002 SLC7A9 mutations in all three cystinuria subtypes.
12239244 2002 Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
12167606 2002 rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.
11318953 2001 Human cystinuria-related transporter: localization and functional characterization.
11157794 2001 Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
10799513 2000 Differential influence of the 4F2 heavy chain and the protein related to b(0,+) amino acid transport on substrate affinity of the heteromeric b(0,+) amino acid transporter.
10588648 1999 Luminal heterodimeric amino acid transporter defective in cystinuria.
10471498 1999 Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
9042922 1997 Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.
9042921 1997 Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.