Genomes and Genes
Gene Symbol: Sptrx 2
Description: NME/NM23 family member 8
Alias: CILD6, HEL-S-99, NM23-H8, SPTRX2, TXNDC3, sptrx-2, thioredoxin domain-containing protein 3, epididymis secretory protein Li 99, sperm-specific thioredoxin 2, spermatid-specific thioredoxin-2, thioredoxin domain containing 3 (spermatozoa)
- Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cellsC M Sadek
Center for Biotechnology, Department of Biosciences at Novum, Karolinska Institutet, S 14157 Huddinge, Sweden
Genes Cells 6:1077-90. 2001..In mammalian organisms, thioredoxins are generally ubiquitously expressed in all tissues, with the exception of Sptrx-1 which is specifically expressed in sperm cells...
- Cis- and trans-acting gene regulation is associated with osteoarthritisSandra Mahr
Institute for Immunology, Medical Faculty, University of Rostock, Rostock, Germany
Am J Hum Genet 78:793-803. 2006..expression imbalances suggests, the presence of allelic imbalances confirms cis-regulatory mechanisms for RHOB and TXNDC3. Interestingly, on/off-switching suggests additional trans-regulation for TXNDC3...
- Genetic association analysis of RHOB and TXNDC3 in osteoarthritisJohn Loughlin
Am J Hum Genet 80:383-6; author reply 386-7. 2007
- A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesiaBénédicte Duriez
Institut National de la Sante et de la Recherche Medicale, Unité 654, F 94000 Creteil, France
Proc Natl Acad Sci U S A 104:3336-41. 2007..So far, none of the 18 members of this family has been involved in human pathology. Here we identified TXNDC3, which encodes a thioredoxin-nucleoside diphosphate kinase, as a gene implicated in primary ciliary dyskinesia (..
- The human Nm23/nucleoside diphosphate kinasesM L Lacombe
INSERM U402, Faculte de Medecine Saint Antoine, Paris, France
J Bioenerg Biomembr 32:247-58. 2000..This suggests that Nm23/NDP kinases possess different, but specific, functions within the cell, depending on their localization. The roles of NDP kinases in metabolic pathways and nucleic acid synthesis are discussed...
- Molecular cloning and characterization of a thioredoxin/nucleoside diphosphate kinase related dynein intermediate chain from the ascidian, Ciona intestinalisP Padma
Asamushi Marine Biological Station, Graduate School of Science, Tohoku University, Asamushi, Aomori 039 3501, Japan
Gene 275:177-83. 2001..Thus, thioredoxin/NDPK-related dynein intermediate chains (TNDK-DIC) would be a characteristic of metazoan flagella and they have become smaller in size and less acidic during evolution...
- Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities StudyJan Bressler
Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas
Am J Med Genet B Neuropsychiatr Genet . 2016..2016 Wiley Periodicals, Inc...
- NME8 rs2718058 polymorphism with Alzheimer's disease risk: a replication and meta-analysisShu Lei Liu
Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, PR China
Oncotarget 7:36014-36020. 2016..05, 95%CI = 0.93-1.17). In conclusion, the rs2718058 near gene NME8 on chromosome 7p14.1 might not play a major role in the genetic predisposition to LOAD in the North Han Chinese...
- Gene-based aggregate SNP associations between candidate AD genes and cognitive declineJasmine Nettiksimmons
Department of Psychiatry, University of San Francisco California, 4150 Clement Street, Box VAMC 116H, San Francisco, CA, 94121, USA
Age (Dordr) 38:41. 2016..We also identified a block of eight correlated SNPs in CD33 and several blocks of correlated SNPs in CELF1 that were significantly associated with cognitive decline in univariate analysis in the all-female cohort. ..
- CD33 modulates TREM2: convergence of Alzheimer lociGail Chan
Ann Romney Center for Neurologic Diseases, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Neurosci 18:1556-8. 2015..There was also a decreased TREM1/TREM2 ratio with a TREM1 risk allele, decreased TREM2 expression with CD33 suppression and elevated cortical TREM2 mRNA expression with amyloid pathology. ..
- A genome-wide association study of periodontitis in a Japanese populationS Shimizu
Laboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan Department of Oral Rehabilitation, Division of Periodontology and Endodontology, School of Dentistry, Health Sciences University of Hokkaido, Tobetsu cho, Ishikari, Hokkaido, Japan
J Dent Res 94:555-61. 2015..In conclusion, this study identified 2 suggestive loci for periodontitis in a Japanese population. This study should contribute to a further understanding of genetic factors for enhanced susceptibility to periodontitis. ..
- Association between NME8 locus polymorphism and cognitive decline, cerebrospinal fluid and neuroimaging biomarkers in Alzheimer's diseaseYing Liu
Department of Neurology, Dalian Medical University, Qingdao Municipal Hospital, Qingdao, China
PLoS ONE 9:e114777. 2014..Together, our results are consistent with the direction of previous research, suggesting that NME8 rs2718058 appears to play a role in lowering the brain neurodegeneration...
- Genetics of Alzheimer's diseaseVincent Chouraki
Department of Neurology, Boston University School of Medicine, Boston, MA, USA Framingham Heart Study, Framingham, MA, USA
Adv Genet 87:245-94. 2014..This effort has identified two novel genes, TREM2 and PLD3, and shown a role for APP in LOAD. The identification of these recently identified genes has implicated previously unsuspected biological pathways in the pathophysiology of AD. ..
- Alzheimer's disease risk genes and mechanisms of disease pathogenesisCeleste M Karch
Department of Psychiatry and Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, Missouri
Biol Psychiatry 77:43-51. 2015..Understanding the mechanisms underlying the association of these genes with risk for disease will provide the most meaningful targets for therapeutic development to date. ..
- [Molecular genetic mechanisms of teratozoospermia]Rui Zhi Liu
Center for Prenatal Diagnosis Center for Reproductive Medicine, The First Hospital of Jilin University, Changchun, Jilin 130021, China
Zhonghua Nan Ke Xue 19:1059-67. 2013..TH2A, TH2B, ODF1, Cntrob, OAZ-t, HOOK1, SPEM1, GAT1, PRSS21, 15-LOX, Sptrx, AKAP3, AKAP4, DNAI1, DNAH5, RSPH4A, TXNDC3, CCDC39, LRRC6, LRRC50, KTU and so on...
- Association analysis of BMD-associated SNPs with knee osteoarthritisLaura M Yerges-Armstrong
Program in Personalized and Genomic Medicine, Division of Endocrinology, Diabetes, and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA
J Bone Miner Res 29:1373-9. 2014..22; 95% CI, 1.08-1.37) maps to 12q3, which contains a gene coding for SP7. Additional loci map to 7p14.1 (TXNDC3), 11q13.2 (LRP5), and 11p14.1 (LIN7C)...
- Functional deletion of Txndc2 and Txndc3 increases the susceptibility of spermatozoa to age-related oxidative stressT B Smith
Reproductive Science Group, Priority Research Centre in Reproductive Science, School of Environmental and Life Sciences, Discipline of Biological Sciences, University of Newcastle, Callaghan, NSW 2308, Australia
Free Radic Biol Med 65:872-81. 2013..germ line expresses three unique forms of thioredoxin, known as thioredoxin domain-containing proteins (Txndc2, Txndc3, and Txndc8)...
- Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information systemElias Zintzaras
Department of Biomathematics, University of Thessaly School of Medicine, 2 Panepistimiou Street, Biopolis, Larissa 41110, Greece
Am J Epidemiol 171:851-8. 2010..were derived for 2 variants (GDF5 rs143383, LRCH1 rs912428) in the main meta-analysis and for 2 other variants (TXNDC3 rs4720262, ESR1 rs2234693) in subgroup analysis by ethnicity or osteoarthritic body site...
- Nme protein family evolutionary history, a vertebrate perspectiveThomas Desvignes
INRA, UR1037 SCRIBE, IFR140, Ouest genopole, F 35000 Rennes, France
BMC Evol Biol 9:256. 2009..The present study therefore aimed at characterizing the Nme gene repertoire in vertebrates with special interest for teleosts, and providing a comprehensive overview of the Nme gene family evolutionary history in vertebrates...
- Ciliary defects and genetics of primary ciliary dyskinesiaEstelle Escudier
AP HP, Service de Génétique et d Embryologie médicales and Inserm U 933, Hopital Armand Trousseau, 26, avenue du Docteur Arnold Netter, 75571 Paris Cedex 13, France
Paediatr Respir Rev 10:51-4. 2009..genes, DNAI1 and DNAH5, underlie PCD in nearly half of the patients with ODA defects, whereas RPGR, DNAH11 and TXNDC3 are implicated in rare families with specific phenotypes (retinitis pigmentosa, abnormal beating of structurally ..
- Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesiaM Failly
Genetic Medicine and Development, University of Geneva Medical School, CH 1211 Geneva 4, Switzerland
J Med Genet 46:281-6. 2009..is mainly described with autosomal recessive inheritance and mutations have been found in five genes: the dynein arm protein subunits DNAI1, DNAH5 and DNAH11, the kinase TXNDC3, and the X-linked retinitis pigmentosa GTPase regulator RPGR.
- Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysisDongquan Shi
The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, 321 Zhongshan Road, Nanjing 210008, Jiangsu, China
Arthritis Res Ther 10:R54. 2008Conflicting findings on the association of single nucleotide polymorphisms (SNPs) in RHOB and TXNDC3 with susceptibility to knee osteoarthritis (OA) have been reported in European Caucasians...
- DNAI1 mutations explain only 2% of primary ciliary dykinesiaMike Failly
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
Respiration 76:198-204. 2008..To date, 5 genes encoding 3 dynein protein arm subunits (DNAI1, DNAH5 and DNAH11), the kinase TXNDC3 and the X-linked RPGR have been found to be mutated in PCD.
- Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15qMaciej Geremek
Complex Genetics Group, Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
Eur J Hum Genet 16:688-95. 2008..DNAH5 and DNAI1 are involved in 28 and 10% of PCD cases, respectively, while two other genes, DNAH11 and TXNDC3, have been identified as causal in one PCD family each. We have previously identified a 3.5 cM (2...
- New gene associations in osteoarthritis: what do they provide, and where are we going?Shiro Ikegawa
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan
Curr Opin Rheumatol 19:429-34. 2007..This review summarizes recent advances and emerging challenges in osteoarthritis association studies...