Aliases for TXNDC2 Gene

Aliases for TXNDC2 Gene

  • Thioredoxin Domain Containing 2 2 3 5
  • SPTRX1 2 3 4
  • Thioredoxin Domain Containing 2 (Spermatozoa) 2 3
  • Thioredoxin Domain-Containing Protein 2 3 4
  • Spermatid-Specific Thioredoxin-1 3 4
  • Sperm-Specific Thioredoxin 1 2 3
  • Sptrx-1 3 4
  • SPTRX 3 4
  • Testicular Tissue Protein Li 215 3
  • TXNDC2 5

External Ids for TXNDC2 Gene

Previous GeneCards Identifiers for TXNDC2 Gene

  • GC18P010019
  • GC18P009875

Summaries for TXNDC2 Gene

GeneCards Summary for TXNDC2 Gene

TXNDC2 (Thioredoxin Domain Containing 2) is a Protein Coding gene. Diseases associated with TXNDC2 include Chromosome 18P Deletion Syndrome and Pelvic Varices. Gene Ontology (GO) annotations related to this gene include protein disulfide oxidoreductase activity and oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor. An important paralog of this gene is TXN.

UniProtKB/Swiss-Prot Summary for TXNDC2 Gene

  • 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.

Gene Wiki entry for TXNDC2 Gene

Additional gene information for TXNDC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TXNDC2 Gene

Genomics for TXNDC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TXNDC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J009884 Promoter/Enhancer 1.4 EPDnew Ensembl dbSUPER 600.7 -0.3 -327 2 LEF1 IKZF1 JUND MTA2 ZNF740 BRD9 ZNF24 DPF2 HDAC1 SOX6 TXNDC2 ENSG00000272799 PIGPP4 lnc-PPP4R1-16 RAB31
GH18J009845 Promoter/Enhancer 0.6 EPDnew dbSUPER 600.3 -40.2 -40161 0.1 MEIS2 RF00001-149 RNA5SP449 TXNDC2 HSALNG0119944 RAB31
GH18J009912 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.5 +29.7 29736 7.3 ARHGAP35 SP1 HNRNPL TEAD4 PRDM10 ZNF629 TFE3 ZNF512 SIX5 LEF1 ENSG00000272799 VAPA NONHSAG023340.2 lnc-TXNDC2-1 TXNDC2 NAPG ANKRD12 PPP4R1 RAB31 RNA5SP450
GH18J009735 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -145.3 -145270 9 GATAD2A PRDM10 ZNF629 ZNF512 RFX1 LEF1 IKZF1 JUND FOXA1 ZIC2 PPP4R1 RAB31 ENSG00000263847 TXNDC2 RNU6-903P VAPA ENSG00000266891 lnc-PPP4R1-13 ZNF415P1
GH18J009823 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -59.3 -59309 6.7 ARHGAP35 CREB1 LEF1 IKZF1 TARDBP JUND ETV6 FOXA1 MTA2 ZSCAN4 ANKRD12 VAPA PPP4R1 RAB31 TXNDC2 RALBP1 RF00017-2620 RN7SL862P lnc-PPP4R1-14 ZNF415P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TXNDC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TXNDC2

Top Transcription factor binding sites by QIAGEN in the TXNDC2 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • NF-YC

Genomic Locations for TXNDC2 Gene

Genomic Locations for TXNDC2 Gene
chr18:9,885,726-9,889,275
(GRCh38/hg38)
Size:
3,550 bases
Orientation:
Plus strand
chr18:9,885,723-9,889,272
(GRCh37/hg19)
Size:
3,550 bases
Orientation:
Plus strand

Genomic View for TXNDC2 Gene

Genes around TXNDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TXNDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TXNDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TXNDC2 Gene

Proteins for TXNDC2 Gene

  • Protein details for TXNDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VQ3-TXND2_HUMAN
    Recommended name:
    Thioredoxin domain-containing protein 2
    Protein Accession:
    Q86VQ3
    Secondary Accessions:
    • A5YM73
    • Q8N7U4
    • Q96RX3
    • Q9H0L8

    Protein attributes for TXNDC2 Gene

    Size:
    553 amino acids
    Molecular mass:
    60404 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TXNDC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TXNDC2 Gene

Post-translational modifications for TXNDC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TXNDC2 Gene

No data available for DME Specific Peptides for TXNDC2 Gene

Domains & Families for TXNDC2 Gene

Gene Families for TXNDC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TXNDC2 Gene

InterPro:
Blocks:
  • Thioredoxin type domain
ProtoNet:

Suggested Antigen Peptide Sequences for TXNDC2 Gene

GenScript: Design optimal peptide antigens:
  • TXNDC2 protein (A5YM73_HUMAN)
  • Spermatid-specific thioredoxin-1 (TXND2_HUMAN)
genes like me logo Genes that share domains with TXNDC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TXNDC2 Gene

Function for TXNDC2 Gene

Molecular function for TXNDC2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for TXNDC2 Gene

Gene Ontology (GO) - Molecular Function for TXNDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004791 thioredoxin-disulfide reductase activity IDA 11399755
genes like me logo Genes that share ontologies with TXNDC2: view
genes like me logo Genes that share phenotypes with TXNDC2: view

Animal Models for TXNDC2 Gene

MGI Knock Outs for TXNDC2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TXNDC2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNDC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TXNDC2 Gene

Localization for TXNDC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TXNDC2 Gene

Cytoplasm. Note=In ejaculated spermatozoa, it localizes in the caudal region of the head to the end of the principal piece.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TXNDC2 gene
Compartment Confidence
cytosol 4
nucleus 3
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TXNDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA,IDA 11399755
genes like me logo Genes that share ontologies with TXNDC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TXNDC2 Gene

Pathways & Interactions for TXNDC2 Gene

PathCards logo

SuperPathways for TXNDC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TXNDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis NAS 11399755
GO:0030154 cell differentiation IEA --
GO:0045454 cell redox homeostasis NAS 11399755
GO:0098869 cellular oxidant detoxification IEA --
genes like me logo Genes that share ontologies with TXNDC2: view

No data available for Pathways by source and SIGNOR curated interactions for TXNDC2 Gene

Drugs & Compounds for TXNDC2 Gene

(2) Drugs for TXNDC2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADP Experimental Pharma 0
genes like me logo Genes that share compounds with TXNDC2: view

Transcripts for TXNDC2 Gene

mRNA/cDNA for TXNDC2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNDC2

Alternative Splicing Database (ASD) splice patterns (SP) for TXNDC2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c
SP1: - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for TXNDC2 Gene

GeneLoc Exon Structure for
TXNDC2

Expression for TXNDC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TXNDC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for TXNDC2 Gene

This gene is overexpressed in Testis (x50.5).

Protein differential expression in normal tissues from HIPED for TXNDC2 Gene

This gene is overexpressed in Ovary (63.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TXNDC2 Gene



Protein tissue co-expression partners for TXNDC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TXNDC2

SOURCE GeneReport for Unigene cluster for TXNDC2 Gene:

Hs.98712

mRNA Expression by UniProt/SwissProt for TXNDC2 Gene:

Q86VQ3-TXND2_HUMAN
Tissue specificity: Testis-specific. Only expressed during spermiogenesis, prominently in round and elongating spermatids.

Evidence on tissue expression from TISSUES for TXNDC2 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TXNDC2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TXNDC2 Gene

Orthologs for TXNDC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TXNDC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TXNDC2 30 31
  • 97.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TXNDC2 30 31
  • 71.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TXNDC2 30 31
  • 69.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Txndc2 30
  • 69.38 (n)
Mouse
(Mus musculus)
Mammalia Txndc2 30 17 31
  • 68.17 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
OneToMany
Chicken
(Gallus gallus)
Aves TXN 31
  • 57 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 52 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii txn 31
  • 50 (a)
ManyToMany
zgc:56493 31
  • 44 (a)
ManyToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10782 30
Fruit Fly
(Drosophila melanogaster)
Insecta Trx-2 31
  • 42 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea trx-1 31
  • 28 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRX2 31
  • 32 (a)
ManyToMany
TRX3 31
  • 31 (a)
ManyToMany
TRX1 31
  • 28 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11205 31
  • 38 (a)
ManyToMany
Species where no ortholog for TXNDC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for TXNDC2 Gene

ENSEMBL:
Gene Tree for TXNDC2 (if available)
TreeFam:
Gene Tree for TXNDC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TXNDC2: view image

Paralogs for TXNDC2 Gene

Paralogs for TXNDC2 Gene

genes like me logo Genes that share paralogs with TXNDC2: view

Variants for TXNDC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TXNDC2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs11081510 - p.Glu341Lys
rs11662946 - p.Ala225Pro
rs17732496 - p.Ala461Thr
rs17805544 - p.Arg487Thr
rs2240906 - p.Gly357Asp

Additional dbSNP identifiers (rs#s) for TXNDC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TXNDC2 Gene

Variant ID Type Subtype PubMed ID
esv2716777 CNV deletion 23290073
esv2716778 CNV deletion 23290073
nsv527829 CNV gain 19592680
nsv833586 CNV loss 17160897

Variation tolerance for TXNDC2 Gene

Residual Variation Intolerance Score: 84.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.93; 91.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TXNDC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TXNDC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TXNDC2 Gene

Disorders for TXNDC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TXNDC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 18p deletion syndrome
  • 18p- syndrome
pelvic varices
primary ciliary dyskinesia
  • pcd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TXNDC2

genes like me logo Genes that share disorders with TXNDC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TXNDC2 Gene

Publications for TXNDC2 Gene

  1. Characterization of Sptrx, a novel member of the thioredoxin family specifically expressed in human spermatozoa. (PMID: 11399755) Miranda-Vizuete A … Spyrou G (The Journal of biological chemistry 2001) 2 3 4 23
  2. Human spermatid-specific thioredoxin-1 (Sptrx-1) is a two-domain protein with oxidizing activity. (PMID: 12387870) Jiménez A … Miranda-Vizuete A (FEBS letters 2002) 3 4 23
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for TXNDC2 Gene

Sources for TXNDC2 Gene