Sptrx 2

Summary

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)
Species: human

Top Publications

  1. ncbi Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells
    C M Sadek
    Center for Biotechnology, Department of Biosciences at Novum, Karolinska Institutet, S 14157 Huddinge, Sweden
    Genes Cells 6:1077-90. 2001
  2. pmc Cis- and trans-acting gene regulation is associated with osteoarthritis
    Sandra Mahr
    Institute for Immunology, Medical Faculty, University of Rostock, Rostock, Germany
    Am J Hum Genet 78:793-803. 2006
  3. pmc Genetic association analysis of RHOB and TXNDC3 in osteoarthritis
    John Loughlin
    Am J Hum Genet 80:383-6; author reply 386-7. 2007
  4. pmc A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
    Bénédicte 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
  5. ncbi The human Nm23/nucleoside diphosphate kinases
    M L Lacombe
    INSERM U402, Faculte de Medecine Saint Antoine, Paris, France
    J Bioenerg Biomembr 32:247-58. 2000
  6. ncbi Molecular cloning and characterization of a thioredoxin/nucleoside diphosphate kinase related dynein intermediate chain from the ascidian, Ciona intestinalis
    P Padma
    Asamushi Marine Biological Station, Graduate School of Science, Tohoku University, Asamushi, Aomori 039 3501, Japan
    Gene 275:177-83. 2001
  7. doi Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study
    Jan 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
  8. pmc NME8 rs2718058 polymorphism with Alzheimer's disease risk: a replication and meta-analysis
    Shu Lei Liu
    Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, PR China
    Oncotarget 7:36014-36020. 2016
  9. pmc Gene-based aggregate SNP associations between candidate AD genes and cognitive decline
    Jasmine 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
  10. pmc CD33 modulates TREM2: convergence of Alzheimer loci
    Gail Chan
    Ann Romney Center for Neurologic Diseases, Brigham and Women s Hospital, Boston, Massachusetts, USA
    Nat Neurosci 18:1556-8. 2015

Scientific Experts

  • Rui Zhi Liu
  • Jasmine Nettiksimmons
  • Elias Zinzaras
  • S Ikegawa
  • M L Lacombe
  • Sandra Mahr
  • Estelle Escudier
  • Thomas Desvignes
  • Shu Lei Liu
  • Jan Bressler
  • Jin Tai Yu
  • S Shimizu
  • Hui Fu Wang
  • Gail Chan
  • Lan Tan
  • Celeste M Karch
  • Laura M Yerges-Armstrong
  • Vincent Chouraki
  • Ying Liu
  • T B Smith
  • Elias Zintzaras
  • M Failly
  • Mike Failly
  • Maciej Geremek
  • Dongquan Shi
  • Bénédicte Duriez
  • John Loughlin
  • Beverly Gwen Windham
  • Alan Penman
  • Lisa M Wruck
  • Xue Chun Wang
  • David S Knopman
  • Meng Shan Tan
  • Eric Boerwinkle
  • Thomas H Mosley
  • Wei Zhang
  • Zi xuan Wang
  • Rebecca F Gottesman
  • T Nagasawa
  • K Ashikawa
  • H Kobayashi
  • Philip L De Jager
  • M Tsuji
  • Y Furuichi
  • Y Momozawa
  • Keith A Johnson
  • Lori B Chibnik
  • Alison M Goate
  • Maria Cimpean
  • Reisa A Sperling
  • Joseph M Replogle
  • Nicole E Cuerdon
  • Phoebe A Winn
  • Charles C White
  • Elizabeth M Bradshaw
  • A Takahashi
  • David A Bennett
  • Laura R Glick
  • M Kubo
  • Y Izumi
  • Julie A Schneider
  • Y Terada
  • Katie J Ryan
  • Marc C Hochberg
  • Teng Jiang
  • Subha Krishnan
  • Joanne M Jordan
  • Youfang Liu
  • Rebecca D Jackson
  • David J Duggan
  • C Kent Kwoh
  • Sudha Seshadri
  • Michelle S Yau
  • Jordan B Renner
  • Xi Chen Zhu
  • Dao Qiang Zhang
  • Lei Cao
  • Charles B Eaton
  • Braxton D Mitchell
  • Xiao ke Hao
  • Michael C Nevitt
  • Yu Fen Yang
  • R J Aitken
  • M A Baker
  • H S Connaughton
  • U Habenicht
  • C M Sadek
  • P Padma
  • Dimitrios C Ziogas
  • Paraskevi Rodopoulou

Detail Information

Publications26

  1. ncbi Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells
    C 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...
  2. pmc Cis- and trans-acting gene regulation is associated with osteoarthritis
    Sandra 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...
  3. pmc Genetic association analysis of RHOB and TXNDC3 in osteoarthritis
    John Loughlin
    Am J Hum Genet 80:383-6; author reply 386-7. 2007
  4. pmc A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
    Bénédicte 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 (..
  5. ncbi The human Nm23/nucleoside diphosphate kinases
    M 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...
  6. ncbi Molecular cloning and characterization of a thioredoxin/nucleoside diphosphate kinase related dynein intermediate chain from the ascidian, Ciona intestinalis
    P 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...
  7. doi Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study
    Jan 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...
  8. pmc NME8 rs2718058 polymorphism with Alzheimer's disease risk: a replication and meta-analysis
    Shu 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...
  9. pmc Gene-based aggregate SNP associations between candidate AD genes and cognitive decline
    Jasmine 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. ..
  10. pmc CD33 modulates TREM2: convergence of Alzheimer loci
    Gail 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. ..
  11. doi A genome-wide association study of periodontitis in a Japanese population
    S 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. ..
  12. pmc Association between NME8 locus polymorphism and cognitive decline, cerebrospinal fluid and neuroimaging biomarkers in Alzheimer's disease
    Ying 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...
  13. doi Genetics of Alzheimer's disease
    Vincent 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. ..
  14. pmc Alzheimer's disease risk genes and mechanisms of disease pathogenesis
    Celeste 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. ..
  15. ncbi [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...
  16. pmc Association analysis of BMD-associated SNPs with knee osteoarthritis
    Laura 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)...
  17. doi Functional deletion of Txndc2 and Txndc3 increases the susceptibility of spermatozoa to age-related oxidative stress
    T 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)...
  18. doi Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system
    Elias 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...
  19. pmc Nme protein family evolutionary history, a vertebrate perspective
    Thomas 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...
  20. doi Ciliary defects and genetics of primary ciliary dyskinesia
    Estelle 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 ..
  21. doi Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
    M 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.
  22. pmc Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis
    Dongquan 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. 2008
    Conflicting 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...
  23. doi DNAI1 mutations explain only 2% of primary ciliary dykinesia
    Mike 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.
  24. doi Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q
    Maciej 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...
  25. ncbi 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...