Human Gene TXNDC2 (uc002koi.4) Description and Page Index
  Description: Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr18:9,885,723-9,888,156 Size: 2,434 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr18:9,886,172-9,888,138 Size: 1,967 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr18:9,885,723-9,888,156)mRNA (may differ from genome)Protein (553 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
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
  Genetic Association Database (archive): TXNDC2
CDC HuGE Published Literature: TXNDC2
Positive Disease Associations: Echocardiography , Phosphorus , Sleep
Related Studies:
  1. 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. [PubMed 17903301]
    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.
  2. 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. [PubMed 17903292]
    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.
  3. Sleep
    Daniel J Gottlieb et al. BMC medical genetics 2007, Genome-wide association of sleep and circadian phenotypes., BMC medical genetics. [PubMed 17903308]
    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.
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 65.21 RPKM in Testis
Total median expression: 66.58 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -131.10449-0.292 Picture PostScript Text
3' UTR 0.00180.000 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001419 - Glutenin
IPR005746 - Thioredoxin
IPR012336 - Thioredoxin-like_fold
IPR013766 - Thioredoxin_domain

Pfam Domains:
PF00085 - Thioredoxin

SCOP Domains:
52833 - Thioredoxin-like

ModBase Predicted Comparative 3D Structure on Q86VQ3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  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

Biological Process:
GO:0006662 glycerol ether metabolic process
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0034599 cellular response to oxidative stress
GO:0045454 cell redox homeostasis
GO:0055114 oxidation-reduction process
GO:0098869 cellular oxidant detoxification

Cellular Component:
GO:0005737 cytoplasm

-  Descriptions from all associated GenBank mRNAs
  AK303045 - Homo sapiens cDNA FLJ61503 complete cds, moderately similar to Thioredoxin domain-containing protein 2.
BC050132 - Homo sapiens thioredoxin domain containing 2 (spermatozoa), mRNA (cDNA clone MGC:35026 IMAGE:5164861), complete cds.
JD523892 - Sequence 504916 from Patent EP1572962.
AK097656 - Homo sapiens cDNA FLJ40337 fis, clone TESTI2032044, moderately similar to THIOREDOXIN.
AF080095 - Homo sapiens sperm-specific thioredoxin (Sptrx) mRNA, complete cds.
EF560747 - Homo sapiens clone IMAGp998K0211411 TXNDC2 protein (TXNDC2) mRNA, complete cds.
HM005528 - Homo sapiens clone HTL-T-215 testicular tissue protein Li 215 mRNA, complete cds.
JD307625 - Sequence 288649 from Patent EP1572962.
JD335455 - Sequence 316479 from Patent EP1572962.
JD062679 - Sequence 43703 from Patent EP1572962.
EU832471 - Synthetic construct Homo sapiens clone HAIB:100067500; DKFZo008C0929 thioredoxin domain-containing 2 (spermatozoa) protein (TXNDC2) gene, encodes complete protein.
EU832550 - Synthetic construct Homo sapiens clone HAIB:100067579; DKFZo004C0930 thioredoxin domain-containing 2 (spermatozoa) protein (TXNDC2) gene, encodes complete protein.
AL136742 - Homo sapiens mRNA; cDNA DKFZp434H0311 (from clone DKFZp434H0311).

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001098529, NP_115619, Q86VQ3, Q8N7U4, Q96RX3, Q9H0L8, SPTRX, SPTRX1, TXND2_HUMAN
UCSC ID: uc002koi.4
RefSeq Accession: NM_001098529
Protein: Q86VQ3 (aka TXND2_HUMAN)
CCDS: CCDS42414.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001098529.1
exon count: 2CDS single in 3' UTR: no RNA size: 2175
ORF size: 1662CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1703.00frame shift in genome: no % Coverage: 97.89
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.