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 ... See more...

Aliases for TDRD6 Gene

Aliases for TDRD6 Gene

  • Tudor Domain Containing 6 2 3 5
  • Cancer/Testis Antigen 41.2 2 3 4
  • Tudor Domain-Containing Protein 6 3 4
  • Spermatogenesis Associated 36 2 3
  • Antigen NY-CO-45 3 4
  • CT41.2 3 4
  • 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 Type 1 and Autoimmune Polyendocrine Syndrome. Among its related pathways are Gene Expression and Mitotic Prophase. An important paralog of this gene is TDRD15.

UniProtKB/Swiss-Prot Summary for TDRD6 Gene

  • Tudor domain-containing protein involved in germ cell development, more specifically the formation of chromatoid body (during spermiogenesis), Balbiani body (during oogenesis), germ plasm (upon fertilization), and for proper miRNA expression and spliceosome maturation (By similarity). Essential for RNA-dependent helicase UPF1 localization to chromatoid body, for UPF1-UPF2 and UPF1-DDX4 interactions which are required for mRNA degradation, using the extended 3' UTR-triggered nonsense-mediated mRNA decay (NMD) pathway. Involved in spliceosome maturation and mRNA splicing in prophase I spermatocytes through interaction with arginine N-methyltransferase PRMT5 and symmetrically arginine dimethylated SNRPB (small nuclear ribonucleoprotein-associated protein) (By similarity).

Additional gene information for TDRD6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TDRD6 Gene

Genomics for TDRD6 Gene

GeneHancer (GH) Regulatory Elements for TDRD6 Gene

Promoters and enhancers for TDRD6 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
GH06J046687 Promoter 0.6 EPDnew 523.9 +0.0 11 0.1 GABPA GABPB1 L3MBTL2 ELF1 TDRD6 ENSG00000242973 LOC101926934
GH06J046688 Promoter 0.5 EPDnew 500.7 +0.3 254 0.1 GABPA GABPB1 ENSG00000242973 LOC101926934 TDRD6
GH06J046729 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 32.6 +45.7 45726 5.6 CTCF RBAK ZNF423 ZNF623 ZBTB26 ZNF662 EZH2 ZNF341 ZNF148 POLR2A PLA2G7 SLC25A27 TDRD6 CD2AP CYP39A1 ENSG00000242973 LOC101926934
GH06J046651 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 34.5 -35.6 -35575 3.8 ZNF217 SP1 SIX5 ZFX ZIC2 POLR2A ZBTB10 ZBTB26 REST RFX1 SLC25A27 CYP39A1 TDRD6 PLA2G7 piR-35729-052
GH06J047307 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.5 +620.8 620812 3.8 HNRNPK ZNF217 EP300 CTCF MYC USF1 POLR2G PHF8 JUND TEAD4 TNFRSF21 lnc-CD2AP-2 CD2AP SLC25A27 TDRD6 piR-61514-158 RF00017-5588
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TDRD6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TDRD6

Top Transcription factor binding sites by QIAGEN in the TDRD6 gene promoter:
  • c-Ets-1
  • c-Myc
  • FAC1
  • GR
  • GR-alpha
  • Lmo2
  • Max
  • POU2F1
  • POU2F1a
  • Sox5

Genomic Locations for TDRD6 Gene

Genomic Locations for TDRD6 Gene
chr6:46,687,875-46,704,319
(GRCh38/hg38)
Size:
16,445 bases
Orientation:
Plus strand
chr6:46,655,612-46,672,056
(GRCh37/hg19)
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 (i.e. messenger ribonucleoproteins which correspond to mRNA with bound proteins), at least composed of TDRD1, TDRD6, TDRD7 and DDX4. Found in a complex, at least composed of PIWIL1, PIWIL2, DDX4 and TDRD6. Interacts with Tex19.1 and probably Tex19.2. Interacts with PRMT5. Interacts with SNRPB (when methylated); to trigger spliceosome formation.
    SequenceCaution:
    • Sequence=AAC18034.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAI45997.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TDRD6 Gene

Blocks:
  • Tudor domain
  • Maternal tudor protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TDRD6 Gene

GenScript: Design optimal peptide antigens:
  • Tudor domain containing 6 (A2IB45_HUMAN)
  • Cancer/testis antigen 41.2 (TDRD6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60522

UniProtKB/Swiss-Prot:

TDRD6_HUMAN :
  • The tudor domains recognize and bind to proteins with dimethylated arginine residues.
Domain:
  • The tudor domains recognize and bind to proteins with dimethylated arginine residues.
genes like me logo Genes that share domains with TDRD6: view

Function for TDRD6 Gene

Molecular function for TDRD6 Gene

UniProtKB/Swiss-Prot Function:
Tudor domain-containing protein involved in germ cell development, more specifically the formation of chromatoid body (during spermiogenesis), Balbiani body (during oogenesis), germ plasm (upon fertilization), and for proper miRNA expression and spliceosome maturation (By similarity). Essential for RNA-dependent helicase UPF1 localization to chromatoid body, for UPF1-UPF2 and UPF1-DDX4 interactions which are required for mRNA degradation, using the extended 3' UTR-triggered nonsense-mediated mRNA decay (NMD) pathway. Involved in spliceosome maturation and mRNA splicing in prophase I spermatocytes through interaction with arginine N-methyltransferase PRMT5 and symmetrically arginine dimethylated SNRPB (small nuclear ribonucleoprotein-associated protein) (By similarity).

Phenotypes From GWAS Catalog for TDRD6 Gene

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

Animal Models for TDRD6 Gene

MGI Knock Outs for TDRD6:

Animal Model Products

Clone 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, 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. {ECO:0000250 UniProtKB:P61407}.

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 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
peroxisome 0
cytosol 0

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TDRD6 Gene

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

Drugs & Compounds for TDRD6 Gene

No Compound Related Data Available

Transcripts for TDRD6 Gene

mRNA/cDNA for TDRD6 Gene

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

Clone 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

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 and MOPED for TDRD6 Gene



Protein tissue co-expression partners for TDRD6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TDRD6

SOURCE GeneReport for Unigene cluster for TDRD6 Gene:

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TDRD6 31 30
  • 85.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TDRD6 31 30
  • 82.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tdrd6 30
  • 76.39 (n)
mouse
(Mus musculus)
Mammalia Tdrd6 17 31 30
  • 75.68 (n)
oppossum
(Monodelphis domestica)
Mammalia TDRD6 31
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TDRD6 31
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves TDRD6 31
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TDRD6 31
  • 44 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xtr 30
zebrafish
(Danio rerio)
Actinopterygii LOC100536102 30
  • 43.29 (n)
tdrd6 31
  • 29 (a)
OneToMany
TDRD6 (2 of 2) 31
  • 24 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta qin 31
  • 13 (a)
ManyToMany
tud 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TDRD6: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TDRD6 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
719132 Benign: not provided 46,691,703(+) C/A MISSENSE_VARIANT
725030 Benign: not provided 46,691,855(+) G/A MISSENSE_VARIANT
731042 Likely Benign: not provided 46,688,347(+) C/T SYNONYMOUS_VARIANT
775078 Likely Benign: not provided 46,693,742(+) G/T MISSENSE_VARIANT
rs796052164 Likely Benign: Long QT syndrome 46,692,848(+) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TDRD6 Gene

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)

Additional Variant Information for TDRD6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TDRD6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
autoimmune polyendocrine syndrome type 1
  • autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
autoimmune polyendocrine syndrome
  • autoimmune polyendocrinopathy
oligoasthenoteratozoospermia
  • oat
- elite association - COSMIC cancer census association via MalaCards
Search TDRD6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 MJ … Old LJ (International journal of cancer 1998) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 54
  4. TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family. (PMID: 29551503) Sha YW … He XM (Gene 2018) 3 54
  5. Chromatoid Body Protein TDRD6 Supports Long 3' UTR Triggered Nonsense Mediated mRNA Decay. (PMID: 27149095) Fanourgakis G … Jessberger R (PLoS genetics 2016) 3 54

Products for TDRD6 Gene

Sources for TDRD6 Gene