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Aliases for TDRD9 Gene

Aliases for TDRD9 Gene

  • Tudor Domain Containing 9 2 3 5
  • Tudor Domain-Containing Protein 9 3 4
  • C14orf75 3 4
  • Putative ATP-Dependent RNA Helicase TDRD9 3
  • Chromosome 14 Open Reading Frame 75 2
  • ATP-Dependent RNA Helicase TDRD9 3
  • Hypoxia-Inducible HIG-1 3
  • EC 3.6.4.13 4
  • EC 3.6.1 56
  • HIG-1 3
  • NET54 3

External Ids for TDRD9 Gene

Previous HGNC Symbols for TDRD9 Gene

  • C14orf75

Previous GeneCards Identifiers for TDRD9 Gene

  • GC14P102414
  • GC14P103491
  • GC14P104394
  • GC14P084574

Summaries for TDRD9 Gene

GeneCards Summary for TDRD9 Gene

TDRD9 (Tudor Domain Containing 9) is a Protein Coding gene. Among its related pathways are Mitotic Prophase and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX34.

UniProtKB/Swiss-Prot for TDRD9 Gene

  • ATP-binding RNA helicase required during spermatogenesis (PubMed:28536242). Required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Acts downstream of piRNA biogenesis: exclusively required for transposon silencing in the nucleus, suggesting that it acts as a nuclear effector in the nucleus together with PIWIL4.

Additional gene information for TDRD9 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TDRD9 Gene

Genomics for TDRD9 Gene

GeneHancer (GH) Regulatory Elements for TDRD9 Gene

Promoters and enhancers for TDRD9 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
GH14I103928 Promoter 0.8 EPDnew 550.8 0.0 -1 0.1 E2F1 NFYA POLR2A NFYB MAX E2F6 ATP5MPL TDRD9
GH14I103930 Enhancer 0.7 Ensembl 550.8 +1.8 1763 0.4 NCOA3 PKNOX1 ESRRA NEUROD1 RARA ZKSCAN1 CTBP1 GATA3 FOS SMARCE1 ATP5MPL TDRD9 RD3L
GH14I103920 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23 -7.2 -7163 1.8 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF213 E2F8 ZNF207 GC14M103921 GC14M103922 XRCC3 TDRD9 BAG5 LINC00638 ATP5MPL GC14P103906
GH14I103931 Enhancer 1.2 FANTOM5 Ensembl ENCODE 28.8 +4.4 4363 3.2 ELF3 SOX13 FOXA2 SAP130 CEBPG RARA ZNF7 TEAD3 POLR2A SOX5 TDRD9 ATP5MPL ENSG00000202275 RD3L
GH14I103879 Enhancer 1.4 Ensembl ENCODE dbSUPER 13.8 -47.4 -47383 4.4 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 TCF12 SLC30A9 LOC105370690 TDRD9 KLC1 ATP5MPL LOC105370689 GC14P103903
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TDRD9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TDRD9 gene promoter:

Genomic Locations for TDRD9 Gene

Genomic Locations for TDRD9 Gene
chr14:103,928,438-104,052,667
(GRCh38/hg38)
Size:
124,230 bases
Orientation:
Plus strand
chr14:104,394,799-104,519,004
(GRCh37/hg19)

Genomic View for TDRD9 Gene

Genes around TDRD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TDRD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TDRD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TDRD9 Gene

Proteins for TDRD9 Gene

  • Protein details for TDRD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDG6-TDRD9_HUMAN
    Recommended name:
    ATP-dependent RNA helicase TDRD9
    Protein Accession:
    Q8NDG6
    Secondary Accessions:
    • A1A4S7
    • Q6ZU54
    • Q8N7T3
    • Q8N827
    • Q8N9V5
    • Q96AS9

    Protein attributes for TDRD9 Gene

    Size:
    1382 amino acids
    Molecular mass:
    155683 Da
    Quaternary structure:
    • Interacts with piRNA-associated proteins PIWIL1 and PIWIL4.
    SequenceCaution:
    • Sequence=AAI28058.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI28058.1; Type=Frameshift; Positions=1159; Evidence={ECO:0000305}; Sequence=BAC04182.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC05047.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC05144.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC86372.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TDRD9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TDRD9 Gene

Selected DME Specific Peptides for TDRD9 Gene

Q8NDG6:
  • IVVTQPR
  • ILSTNIAE

Post-translational modifications for TDRD9 Gene

  • Ubiquitination at isoforms=286, posLast=487487, isoforms=2511, posLast=570570, and isoforms=21305
  • Modification sites at PhosphoSitePlus

Domains & Families for TDRD9 Gene

Gene Families for TDRD9 Gene

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

Suggested Antigen Peptide Sequences for TDRD9 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NDG6

UniProtKB/Swiss-Prot:

TDRD9_HUMAN :
  • Belongs to the DEAD box helicase family. DEAH subfamily.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily.
genes like me logo Genes that share domains with TDRD9: view

Function for TDRD9 Gene

Molecular function for TDRD9 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
ATP-binding RNA helicase required during spermatogenesis (PubMed:28536242). Required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Acts downstream of piRNA biogenesis: exclusively required for transposon silencing in the nucleus, suggesting that it acts as a nuclear effector in the nucleus together with PIWIL4.

Enzyme Numbers (IUBMB) for TDRD9 Gene

Phenotypes From GWAS Catalog for TDRD9 Gene

Gene Ontology (GO) - Molecular Function for TDRD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA --
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TDRD9: view
genes like me logo Genes that share phenotypes with TDRD9: view

Human Phenotype Ontology for TDRD9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TDRD9 Gene

MGI Knock Outs for TDRD9:

Animal Model Products

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for TDRD9 Gene

Localization for TDRD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TDRD9 Gene

Cytoplasm. Nucleus. Note=Component of the nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Specifically localizes to piP-bodies, a subset of the nuage which contains secondary piRNAs. PIWIL2 is required for its localization to piP-bodies. {ECO:0000250 UniProtKB:Q14BI7}.

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 TDRD9 gene
Compartment Confidence
nucleus 5
plasma membrane 3
mitochondrion 3

Gene Ontology (GO) - Cellular Components for TDRD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 28536242
GO:0005737 cytoplasm IDA,IEA 28536242
GO:0005739 mitochondrion IBA --
GO:0043186 P granule IBA --
GO:0071547 piP-body IEA,ISS --
genes like me logo Genes that share ontologies with TDRD9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TDRD9 Gene

Pathways & Interactions for TDRD9 Gene

genes like me logo Genes that share pathways with TDRD9: view

Pathways by source for TDRD9 Gene

Gene Ontology (GO) - Biological Process for TDRD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing IBA --
GO:0007140 male meiotic nuclear division IEA,ISS --
GO:0007141 male meiosis I IEA,ISS --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis ISS --
genes like me logo Genes that share ontologies with TDRD9: view

No data available for SIGNOR curated interactions for TDRD9 Gene

Drugs & Compounds for TDRD9 Gene

(3) Drugs for TDRD9 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for TDRD9 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with TDRD9: view

Transcripts for TDRD9 Gene

Unigene Clusters for TDRD9 Gene

Tudor domain containing 9:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TDRD9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2: -
SP3:
SP4:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34
SP1: - - - - -
SP2:
SP3:
SP4:

Relevant External Links for TDRD9 Gene

GeneLoc Exon Structure for
TDRD9
ECgene alternative splicing isoforms for
TDRD9

Expression for TDRD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TDRD9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TDRD9 Gene

This gene is overexpressed in Testis (x13.5) and Whole Blood (x9.8).

Protein differential expression in normal tissues from HIPED for TDRD9 Gene

This gene is overexpressed in Lung (26.7), Testis (14.3), Urine (13.3), and Ovary (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TDRD9 Gene



Protein tissue co-expression partners for TDRD9 Gene

NURSA nuclear receptor signaling pathways regulating expression of TDRD9 Gene:

TDRD9

SOURCE GeneReport for Unigene cluster for TDRD9 Gene:

Hs.21454

Evidence on tissue expression from TISSUES for TDRD9 Gene

  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with TDRD9: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TDRD9 Gene

Orthologs for TDRD9 Gene

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

Orthologs for TDRD9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TDRD9 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia TDRD9 33 34
  • 87.01 (n)
rat
(Rattus norvegicus)
Mammalia Tdrd9 33
  • 82.95 (n)
mouse
(Mus musculus)
Mammalia Tdrd9 33 16 34
  • 82.43 (n)
cow
(Bos Taurus)
Mammalia TDRD9 33 34
  • 81.89 (n)
oppossum
(Monodelphis domestica)
Mammalia TDRD9 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TDRD9 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TDRD9 33 34
  • 67.99 (n)
lizard
(Anolis carolinensis)
Reptilia TDRD9 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tdrd9 33
  • 66.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33497 33
zebrafish
(Danio rerio)
Actinopterygii tdrd9 33 34
  • 58.21 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta SPNE_ANOGA 33
  • 47 (n)
fruit fly
(Drosophila melanogaster)
Insecta spn-E 33 34
  • 45.45 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToOne
Species where no ortholog for TDRD9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TDRD9 Gene

ENSEMBL:
Gene Tree for TDRD9 (if available)
TreeFam:
Gene Tree for TDRD9 (if available)

Paralogs for TDRD9 Gene

Paralogs for TDRD9 Gene

(2) SIMAP similar genes for TDRD9 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TDRD9: view

Variants for TDRD9 Gene

Sequence variations from dbSNP and Humsavar for TDRD9 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000010159 -- 103,975,094(+) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000027034 -- 104,037,924(+) A/G intron_variant
rs1000038598 -- 103,994,784(+) A/G intron_variant
rs1000094455 -- 104,007,424(+) A/T intron_variant
rs1000122949 -- 104,039,997(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TDRD9 Gene

Variant ID Type Subtype PubMed ID
esv2666705 CNV deletion 23128226
esv2749176 CNV deletion 23290073
esv2749177 CNV deletion 23290073
esv2760013 CNV loss 17122850
esv3552098 CNV deletion 23714750
esv3635614 CNV gain 21293372
nsv1047990 CNV gain 25217958
nsv1050479 CNV gain 25217958
nsv1054574 CNV loss 25217958
nsv1111504 CNV deletion 24896259
nsv1111923 CNV deletion 24896259
nsv1138336 CNV deletion 24896259
nsv1432 CNV insertion 18451855
nsv474138 CNV novel sequence insertion 20440878
nsv526680 CNV gain 19592680
nsv820065 CNV gain 19587683
nsv84392 CNV deletion 16902084

Variation tolerance for TDRD9 Gene

Residual Variation Intolerance Score: 8.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.64; 65.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TDRD9 Gene

Human Gene Mutation Database (HGMD)
TDRD9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TDRD9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TDRD9 Gene

Disorders for TDRD9 Gene

UniProtKB/Swiss-Prot

TDRD9_HUMAN
  • Note=Defects in TDRD9 may be a cause of non-obstructive azoospermia, a disorder characterized by the absence of sperm. Female fertility is not affected. {ECO:0000269 PubMed:28536242}.

Additional Disease Information for TDRD9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for TDRD9 Gene.

No data available for MalaCards and Genatlas for TDRD9 Gene

Publications for TDRD9 Gene

  1. Mutation in TDRD9 causes non-obstructive azoospermia in infertile men. (PMID: 28536242) Arafat M … Parvari R (Journal of medical genetics 2017) 3 4 58
  2. Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. (PMID: 21254220) Jiang Y … Zhang H (Genetic epidemiology 2011) 3 44 58
  3. Family-based association study for bipolar affective disorder. (PMID: 20414141) Secolin R … Lopes-Cendes I (Psychiatric genetics 2010) 3 44 58
  4. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 44 58
  5. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PMID: 19308021) Ollila HM … Paunio T (Molecular psychiatry 2009) 3 44 58

Products for TDRD9 Gene

Sources for TDRD9 Gene

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