ID:TXND2_HUMAN DESCRIPTION: RecName: Full=Thioredoxin domain-containing protein 2; AltName: Full=Spermatid-specific thioredoxin-1; Short=Sptrx-1; FUNCTION: Probably plays a regulatory role in sperm development. May participate in regulation of fibrous sheath (FS) assembly by supporting the formation of disulfide bonds during sperm tail morphogenesis. May also be required to rectify incorrect disulfide pairing and generate suitable pairs between the FS constituents. Can reduce disulfide bonds in vitro in the presence of NADP and thioredoxin reductase. SUBCELLULAR LOCATION: Cytoplasm. Note=In ejaculated spermatozoa, it localizes in the caudal region of the head to the end of the principal piece. TISSUE SPECIFICITY: Testis-specific. Only expressed during spermiogenesis, prominently in round and elongating spermatids. SIMILARITY: Contains 1 thioredoxin domain.
Genetic Association Studies of Complex Diseases and Disorders
Echocardiography Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
Phosphorus Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
Sleep Daniel J Gottlieb et al. BMC medical genetics 2007, Genome-wide association of sleep and circadian phenotypes., BMC medical genetics.
This analysis confirms prior reports of significant heritability of sleepiness, usual bedtime, and usual sleep duration. Several genetic loci with suggestive linkage to these traits are identified, including linkage peaks containing circadian clock-related genes. Association tests identify NPSR1 and PDE4D as possible mediators of bedtime and sleepiness.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q86VQ3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004791 thioredoxin-disulfide reductase activity GO:0015035 protein disulfide oxidoreductase activity GO:0016671 oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor GO:0047134 protein-disulfide reductase activity