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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TXNDC8 Gene

protein-coding   GIFtS: 43
GCID: GC09M113065

Thioredoxin Domain Containing 8 (Spermatozoa)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Thioredoxin Domain Containing 8 (Spermatozoa)1 2     Thioredoxin 62
Sperm-Specific Thioredoxin 31 2     Thioredoxin Domain-Containing Protein 82
Spermatid-Specific Thioredoxin-32 3     thioredoxin-62
TRX62 3     SPTRX33
SPTRX-32     Sptrx-33
bA427L11.22     Thioredoxin-63
Spermatocyte/Spermatid-Specific Thioredoxin-32     

External Ids:    HGNC: 314541   Entrez Gene: 2552202   Ensembl: ENSG000002041937   UniProtKB: Q6A5553   

Export aliases for TXNDC8 gene to outside databases

Previous GC identifers: GC09U900588 GC09M110145 GC09M112105 GC09M082667


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TXNDC8 Gene: 
TXNDC8 (thioredoxin domain containing 8 (spermatozoa)) is a protein-coding gene. Diseases associated with TXNDC8 include infertility, and tuberculosis. GO annotations related to this gene include electron carrier activity and protein disulfide oxidoreductase activity. An important paralog of this gene is TXN.

UniProtKB/Swiss-Prot: TXND8_HUMAN, Q6A555
Function: May be required for post-translational modifications of proteins required for acrosomal biogenesis. May
act by reducing disulfide bonds within the sperm




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TXNDC8 gene promoter:
         STAT5B   STAT4   STAT6   STAT5A   CUTL1   HNF-1A   Nkx6-1   HNF-1   STAT3   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTXNDC8 promoter sequence
   Search SABiosciences Chromatin IP Primers for TXNDC8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TXNDC8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q31.3   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31.3

TXNDC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TXNDC8 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M113065:  view genomic region     (about GC identifiers)

Start:
113,065,801 bp from pter      End:
113,100,127 bp from pter
Size:
34,327 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TXND8_HUMAN, Q6A555 (See protein sequence)
Recommended Name: Thioredoxin domain-containing protein 8  
Size: 127 amino acids; 14575 Da
Subcellular location: Cytoplasm. Golgi apparatus
Miscellaneous: Increased levels, possibly caused by overexpression, are observed in morphologically abnormal
spermatozoa from infertile men, suggesting that it may be used as a marker of aberrant spermatogenesis
Sequence caution: Sequence=CAI14069.1; Type=Erroneous gene model prediction;
Secondary accessions: A1L4I2 A6NDK7 Q5T934
Alternative splicing: 2 isoforms:  Q6A555-1   Q6A555-2   

Explore the universe of human proteins at neXtProt for TXNDC8: NX_Q6A555

Explore proteomics data for TXNDC8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6A555

  • TXNDC8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TXNDC8 Protein Expression
    REFSEQ proteins: NP_001003936.1  
    ENSEMBL proteins: 
     ENSP00000363634   ENSP00000408768   ENSP00000363631   ENSP00000363635  

    Human Recombinant Protein Products for TXNDC8: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0019861flagellum ----

    TXNDC8 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR013766 Thioredoxin_domain
     IPR005746 Thioredoxin
     IPR012336 Thioredoxin-like_fold

    Graphical View of Domain Structure for InterPro Entry Q6A555

    ProtoNet protein and cluster: Q6A555

    1 Blocks protein domain: IPB006662 Thioredoxin type domain

    UniProtKB/Swiss-Prot: TXND8_HUMAN, Q6A555
    Similarity: Belongs to the thioredoxin family
    Similarity: Contains 1 thioredoxin domain


    TXNDC8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TXND8_HUMAN, Q6A555
    Function: May be required for post-translational modifications of proteins required for acrosomal biogenesis. May
    act by reducing disulfide bonds within the sperm

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009055electron carrier activity IEA--
    GO:0015035protein disulfide oxidoreductase activity IEA--
         
    TXNDC8 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TXNDC8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for TXNDC8 (ENSP000003636344) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MSRAENSP000003139214STRING: ENSP00000313921
    GSRENSP000002211304STRING: ENSP00000221130
    NSFENSP000003812934STRING: ENSP00000381293
    GLRXENSP000002378584STRING: ENSP00000237858
    PRDX5ENSP000002654624STRING: ENSP00000265462
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001675acrosome assembly IEA--
    GO:0006662glycerol ether metabolic process IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis ----
    GO:0045454cell redox homeostasis IEA--

    TXNDC8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TXNDC8 (TXND8)

    Search CenterWatch for drugs/clinical trials and news about TXNDC8 / TXND8

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TXNDC8 gene: 
    NM_001003936.2  

    Unigene Cluster for TXNDC8:

    Thioredoxin domain containing 8 (spermatozoa)
    Hs.147064  [show with all ESTs]
    Unigene Representative Sequence: BM559802
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374510(uc004bes.3 uc011lwl.2) ENST00000423740 ENST00000374507
    ENST00000374511
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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                         Customized lentivirus expression plasmids for stable overexpression of TXNDC8 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TXNDC8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TXNDC8

    Additional mRNA sequence: 

    AF305830.1 BC130549.1 BC130551.1 BC144461.1 

    3 DOTS entries:

    DT.75118799  DT.121164752  DT.97784391 

    6 AceView cDNA sequences:

    BX111879 BC035743 BM559802 AF305830 AI188241 NM_001003936 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TXNDC8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATGTCTGT
    TXNDC8 Expression
    About this image


    See TXNDC8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TXNDC8

    SOURCE GeneReport for Unigene cluster: Hs.147064

    UniProtKB/Swiss-Prot: TXND8_HUMAN, Q6A555
    Tissue specificity: Testis-specific. Only expressed during spermiogenesis, prominently in the Golgi apparatus of
    pachytene spermatocytes and round and elongated spermatids, with a transient localization in the developing
    acrosome of round spermatids (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TXNDC8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for TXNDC8 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Txndc81 , 5 thioredoxin domain containing 81, 5 73.52(n)1
    60.75(a)1
      4 (31.87 cM)5
    674021  NM_026132.21  NP_080408.21 
     579840275 
    lizard
    (Anolis carolinensis)
    Reptilia TXNDC86
    thioredoxin domain containing 8 (spermatozoa)
    31(a)
    1 ↔ 1
    GL343476.1(185771-203507)
    zebrafish
    (Danio rerio)
    Actinopterygii txn6
    zgc:564936
    zgc:56493
    32(a)
    31(a)
    many ↔ many
    many ↔ many
    7(25524322-25531917)
    1(40656189-40663079)
    worm
    (Caenorhabditis elegans)
    Secernentea trx-16
    Thioredoxin-1
    17(a)
    possible ortholog
    II(7752632-7753607)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TRX16
    TRX26
    (see all 3)
    Cytoplasmic thioredoxin isoenzyme of the thioredox...
    Cytoplasmic thioredoxin isoenzyme of the thioredox...
    (see all 3)
    26(a)
    25(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    XII(231702-232013)
    VII(912913-913227)


    ENSEMBL Gene Tree for TXNDC8 (if available)
    TreeFam Gene Tree for TXNDC8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TXNDC8 gene
    TXN2  TXNDC22  TXNL12  
    2 SIMAP similar genes for TXNDC8 using alignment to 3 protein entries:     TXND8_HUMAN (see all proteins):
    TXNL1    TXN

    TXNDC8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/880 SNPs in TXNDC8 are shown (see all 880)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1456173281,2
    C--113065376(+) ATTTTG/TTACCA 1 -- int10--------
    rs1911526911,2
    C--113065441(+) CTAAGA/TCATTT 1 -- int10--------
    rs1121429731,2
    C,F--113065598(+) CCCAAG/TTTGGA 1 -- int12Minor allele frequency- T:0.50CSA 4
    rs1838542891,2
    --113065672(+) TTATGA/GTATTC 1 -- int10--------
    rs1881919711,2
    C--113065830(+) TTCCAA/GTTTTT 1 -- int10--------
    rs412784191,2
    C,F--113065894(+) ACATTT/GATTGA 1 -- ut311Minor allele frequency- G:0.01NA 120
    rs2012587661,2
    C--113065943(+) TATTCC/TTGATT 1 -- ut311Minor allele frequency- T:0.00EU 1143
    rs1413835811,2
    C,F--113065962(+) AAATCC/GTACTC 2 Y * stop-lost2Minor allele frequency- G:0.00NA EU 5277
    rs22744821,2
    C,F,H--113065974(+) TTTCCA/C/GTCATC 3 D E syn1 mis17NS EA 870
    rs1832668641,2
    --113066028(+) TCATAA/TTATTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for TXNDC8 (113065801 - 113100127 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TXNDC8:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2752274CNV Gain17911159
    nsv893714CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for TXNDC8:    About MalaCards
    infertility    tuberculosis


    TXNDC8 for disorders           About GeneDecksing


    Export disorders for TXNDC8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TXNDC8 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TXNDC8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Spermatocyte/spermatid-specific thioredoxin-3, a novel Golgi apparatus-associated thioredoxin, is a specific marker of aberrant spermatogenesis. (PubMed id 15181017)1, 2, 9 Jimenez A.... Miranda-Vizuete A. (2004)
    2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    5. High throughput, parallel imaging and biomarker quant ification of human spermatozoa by ImageStream flow cytometry. (PubMed id 19938959)9 Buckman C....Sutovsky P. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 255220 HGNC: 31454 AceView: TXNDC8 Ensembl:ENSG00000204193 euGenes: HUgn255220
    ECgene: TXNDC8 H-InvDB: TXNDC8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TXNDC8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TXNDC8 gene:
    Search GeneIP for patents involving TXNDC8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TXNDC8
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     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TXNDC8
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     inGenious Targeting Laboratory - Custom generated mouse model solutions for TXNDC8
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
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