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Aliases for TDRD6 Gene

Aliases for TDRD6 Gene

  • Tudor Domain Containing 6 2 3 5
  • Cancer/Testis Antigen 41.2 2 3 4
  • Spermatogenesis Associated 36 2 3
  • Antigen NY-CO-45 3 4
  • CT41.2 3 4
  • Tudor Domain-Containing Protein 6 3
  • BA446F17.4 3
  • NY-CO-45 3
  • SPATA36 3
  • TDR2 3

External Ids for TDRD6 Gene

Previous GeneCards Identifiers for TDRD6 Gene

  • GC06P046702
  • GC06P046764
  • GC06P046378

Summaries for TDRD6 Gene

Entrez Gene Summary for TDRD6 Gene

  • This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016]

GeneCards Summary for TDRD6 Gene

TDRD6 (Tudor Domain Containing 6) is a Protein Coding gene. Diseases associated with TDRD6 include Autoimmune Polyendocrine Syndrome. Among its related pathways are Mitotic Prophase and PIWI-interacting RNA (piRNA) biogenesis. An important paralog of this gene is TDRD15.

UniProtKB/Swiss-Prot for TDRD6 Gene

  • Involved in spermiogenesis, chromatoid body formation and for proper precursor and mature miRNA expression.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TDRD6 Gene

Genomics for TDRD6 Gene

Regulatory Elements for TDRD6 Gene

Enhancers for TDRD6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F046651 1 ENCODE 34.4 -35.3 -35344 2.6 ATF1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 YY1 TDRD6 SLC25A27 PLA2G7 CYP39A1 RCAN2
GH06F046770 1.5 FANTOM5 Ensembl ENCODE 10.6 +84.9 84927 4.4 CTCF TFAP4 PKNOX1 MAX ZNF384 CEBPG TEAD3 NCOR1 FOS HES1 PLA2G7 MEP1A TDRD6 ENSG00000236164 GC06P046792
GH06F046733 0.9 ENCODE 16.3 +47.0 47029 1.8 ZNF76 KLF17 RAD21 ZNF2 ZNF121 GLIS2 ZNF302 ZNF366 EGR2 ZNF263 CD2AP TDRD6 SLC25A27 GC06P046731 PLA2G7
GH06F046729 0.9 FANTOM5 Ensembl 16.1 +42.5 42526 2.4 GATA3 REST ATF2 TDRD6 PLA2G7 GC06P046731 GC06P046726
GH06F046787 0.9 ENCODE 14.6 +101.9 101911 3.9 PKNOX1 INSM2 KLF17 FEZF1 ZBTB40 RARA ZNF335 ZNF366 SCRT2 CREM TDRD6 PLA2G7 SLC25A27 GC06P046792 ENSG00000236164
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TDRD6 on UCSC Golden Path with GeneCards custom track

Genomic Location for TDRD6 Gene

Chromosome:
6
Start:
46,687,875 bp from pter
End:
46,704,319 bp from pter
Size:
16,445 bases
Orientation:
Plus strand

Genomic View for TDRD6 Gene

Genes around TDRD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TDRD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TDRD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TDRD6 Gene

Proteins for TDRD6 Gene

  • Protein details for TDRD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60522-TDRD6_HUMAN
    Recommended name:
    Tudor domain-containing protein 6
    Protein Accession:
    O60522
    Secondary Accessions:
    • B3KWU2
    • F5H5M3
    • Q5HYB1
    • Q5VTS4
    • Q6ZMX5

    Protein attributes for TDRD6 Gene

    Size:
    2096 amino acids
    Molecular mass:
    236517 Da
    Quaternary structure:
    • Found in a mRNP complex, at least composed of TDRD1, TDRD6, TDRD7 and DDX4. Found in a complex, at least composed of PIWIL1, PIWIL2 and TDRD6. Interacts with DDX4 and PIWIL1 (By similarity).
    SequenceCaution:
    • Sequence=AAC18034.1; Type=Frameshift; Positions=1994; Evidence={ECO:0000305}; Sequence=CAI45997.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TDRD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TDRD6 Gene

Post-translational modifications for TDRD6 Gene

  • Undergoes proteolytic cleavage near the C-terminal by an unknown protease during the transition from meiosis I to meiosis II in primary spermatocytes.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TDRD6 Gene

No data available for DME Specific Peptides for TDRD6 Gene

Domains & Families for TDRD6 Gene

Gene Families for TDRD6 Gene

Protein Domains for TDRD6 Gene

Suggested Antigen Peptide Sequences for TDRD6 Gene

Graphical View of Domain Structure for InterPro Entry

O60522

UniProtKB/Swiss-Prot:

TDRD6_HUMAN :
  • Contains 8 Tudor domains.
Domain:
  • Contains 8 Tudor domains.
genes like me logo Genes that share domains with TDRD6: view

Function for TDRD6 Gene

Molecular function for TDRD6 Gene

UniProtKB/Swiss-Prot Function:
Involved in spermiogenesis, chromatoid body formation and for proper precursor and mature miRNA expression.
genes like me logo Genes that share phenotypes with TDRD6: view

Animal Models for TDRD6 Gene

MGI Knock Outs for TDRD6:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TDRD6 Gene

Localization for TDRD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TDRD6 Gene

Cytoplasm. Note=Present in chromatoid body (CB) of spermatids (mammalian counterpart of germplasm, pole plasm or polar granules in Drosophila germ cells), also named processing bodies (P-bodies) in somatic cells. Detected in the multilobular cytoplasmic CBs (also called intermitochondrial cementin) in pachytene spermatocytes and as a single perinuclear CB in haploid round spermatids. Colocalizes in CB with DDX4, PIWIL1, PIWIL2, TDRD1 and TDRD7 (By similarity). {ECO:0000250}.

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 TDRD6 gene
Compartment Confidence
plasma membrane 3
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TDRD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0033391 chromatoid body ISS --
genes like me logo Genes that share ontologies with TDRD6: view

Pathways & Interactions for TDRD6 Gene

genes like me logo Genes that share pathways with TDRD6: view

Pathways by source for TDRD6 Gene

Gene Ontology (GO) - Biological Process for TDRD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis ISS --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with TDRD6: view

No data available for SIGNOR curated interactions for TDRD6 Gene

Transcripts for TDRD6 Gene

Unigene Clusters for TDRD6 Gene

Tudor domain containing 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TDRD6 Gene

No ASD Table

Relevant External Links for TDRD6 Gene

GeneLoc Exon Structure for
TDRD6
ECgene alternative splicing isoforms for
TDRD6

Expression for TDRD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TDRD6 Gene

mRNA differential expression in normal tissues according to GTEx for TDRD6 Gene

This gene is overexpressed in Testis (x13.2), Brain - Cerebellum (x6.1), and Brain - Cerebellar Hemisphere (x4.8).

Protein differential expression in normal tissues from HIPED for TDRD6 Gene

This gene is overexpressed in Ovary (37.4), Testis (22.6), and Platelet (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TDRD6 Gene



Protein tissue co-expression partners for TDRD6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TDRD6 Gene:

TDRD6

SOURCE GeneReport for Unigene cluster for TDRD6 Gene:

Hs.656983
genes like me logo Genes that share expression patterns with TDRD6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TDRD6 Gene

Orthologs for TDRD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TDRD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TDRD6 34 35
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia TDRD6 34 35
  • 85.22 (n)
cow
(Bos Taurus)
Mammalia TDRD6 34 35
  • 82.92 (n)
rat
(Rattus norvegicus)
Mammalia Tdrd6 34
  • 76.39 (n)
mouse
(Mus musculus)
Mammalia Tdrd6 34 16 35
  • 75.68 (n)
oppossum
(Monodelphis domestica)
Mammalia TDRD6 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TDRD6 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves TDRD6 35
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TDRD6 35
  • 44 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xtr 34
zebrafish
(Danio rerio)
Actinopterygii LOC100536102 34
  • 43.29 (n)
tdrd6 35
  • 29 (a)
OneToMany
TDRD6 (2 of 2) 35
  • 24 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta qin 35
  • 13 (a)
ManyToMany
tud 35
  • 12 (a)
ManyToMany
Species where no ortholog for TDRD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TDRD6 Gene

ENSEMBL:
Gene Tree for TDRD6 (if available)
TreeFam:
Gene Tree for TDRD6 (if available)

Paralogs for TDRD6 Gene

Paralogs for TDRD6 Gene

genes like me logo Genes that share paralogs with TDRD6: view

Variants for TDRD6 Gene

Sequence variations from dbSNP and Humsavar for TDRD6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs796052164 Likely benign 46,692,848(+) ATCCT(G/T)GTATA reference, missense
rs1024915 -- 46,696,551(+) tatat(A/G)tgtgt intron-variant
rs1024916 -- 46,696,575(+) tgtgt(A/G)tgtgt intron-variant
rs10498771 -- 46,703,535(+) CAGAA(G/T)GAGTG nc-transcript-variant, utr-variant-3-prime
rs10548953 -- 46,704,719(+) TTAAT(-/C)AACAT intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for TDRD6 Gene

Variant ID Type Subtype PubMed ID
nsv523148 CNV loss 19592680

Variation tolerance for TDRD6 Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.53; 94.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TDRD6 Gene

Human Gene Mutation Database (HGMD)
TDRD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TDRD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TDRD6 Gene

Disorders for TDRD6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TDRD6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autoimmune polyendocrine syndrome
  • autoimmune polyendocrinopathy
- elite association - COSMIC cancer census association via MalaCards
Search TDRD6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TDRD6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TDRD6
genes like me logo Genes that share disorders with TDRD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TDRD6 Gene

Publications for TDRD6 Gene

  1. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan M.J. … Old L.J. (Int. J. Cancer 1998) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  4. Chromatoid Body Protein TDRD6 Supports Long 3' UTR Triggered Nonsense Mediated mRNA Decay. (PMID: 27149095) Fanourgakis G. … Jessberger R. (PLoS Genet. 2016) 3 64
  5. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. (PMID: 20811636) Giannone R.J. … Liu Y. (PLoS ONE 2010) 3 64

Products for TDRD6 Gene

Sources for TDRD6 Gene

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