Aliases for TDRD12 Gene

Aliases for TDRD12 Gene

  • Tudor Domain Containing 12 2 3 5
  • ECAT8 2 3 4
  • Putative ATP-Dependent RNA Helicase TDRD12 3 4
  • ES Cell-Associated Transcript 8 Protein 3 4
  • Tudor Domain-Containing Protein 12 3 4
  • ES Cell Associated Transcript 8 3
  • EC 3.6.4.13 4
  • FLJ13072 2
  • TDRD12 5

External Ids for TDRD12 Gene

Previous GeneCards Identifiers for TDRD12 Gene

  • GC19P037903
  • GC19P033210
  • GC19P029713

Summaries for TDRD12 Gene

GeneCards Summary for TDRD12 Gene

TDRD12 (Tudor Domain Containing 12) is a Protein Coding gene. Among its related pathways are Mitotic Prophase and PIWI-interacting RNA (piRNA) biogenesis. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent RNA helicase activity. An important paralog of this gene is TDRD6.

UniProtKB/Swiss-Prot Summary for TDRD12 Gene

  • Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing 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. Involved in the secondary piRNAs metabolic process. Acts via the PET complex, a multiprotein complex required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs.

Additional gene information for TDRD12 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TDRD12 Gene

Genomics for TDRD12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TDRD12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TDRD12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TDRD12

Top Transcription factor binding sites by QIAGEN in the TDRD12 gene promoter:
  • Evi-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • NRSF form 1
  • NRSF form 2
  • Pax-4a
  • STAT5A
  • TFIID

Genomic Locations for TDRD12 Gene

Genomic Locations for TDRD12 Gene
chr19:32,719,753-32,829,580
(GRCh38/hg38)
Size:
109,828 bases
Orientation:
Plus strand
chr19:33,210,659-33,320,483
(GRCh37/hg19)
Size:
109,825 bases
Orientation:
Plus strand

Genomic View for TDRD12 Gene

Genes around TDRD12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TDRD12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TDRD12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TDRD12 Gene

Proteins for TDRD12 Gene

  • Protein details for TDRD12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q587J7-TDR12_HUMAN
    Recommended name:
    Putative ATP-dependent RNA helicase TDRD12
    Protein Accession:
    Q587J7

    Protein attributes for TDRD12 Gene

    Size:
    1177 amino acids
    Molecular mass:
    132578 Da
    Quaternary structure:
    • Component of a mRNP complex containing PIWIL2, TDRD1 and piRNAs. Component of the PET complex, at least composed of EXD1, PIWIL2, TDRD12 and piRNAs.
    SequenceCaution:
    • Sequence=BAD95490.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TDRD12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TDRD12 Gene

Post-translational modifications for TDRD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TDRD12 Gene

Domains & Families for TDRD12 Gene

Gene Families for TDRD12 Gene

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

Protein Domains for TDRD12 Gene

InterPro:
Blocks:
  • Maternal tudor protein
ProtoNet:

Suggested Antigen Peptide Sequences for TDRD12 Gene

GenScript: Design optimal peptide antigens:
  • ES cell-associated transcript 8 protein (TDR12_HUMAN)
genes like me logo Genes that share domains with TDRD12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TDRD12 Gene

Function for TDRD12 Gene

Molecular function for TDRD12 Gene

UniProtKB/Swiss-Prot Function:
Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing 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. Involved in the secondary piRNAs metabolic process. Acts via the PET complex, a multiprotein complex required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;.

Enzyme Numbers (IUBMB) for TDRD12 Gene

Phenotypes From GWAS Catalog for TDRD12 Gene

Gene Ontology (GO) - Molecular Function for TDRD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003674 molecular_function ND --
GO:0003676 nucleic acid binding IEA --
GO:0003724 RNA helicase activity IEA --
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with TDRD12: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TDRD12

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TDRD12 Gene

Localization for TDRD12 Gene

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 TDRD12 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TDRD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:1990923 PET complex IDA,ISS --
genes like me logo Genes that share ontologies with TDRD12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for TDRD12 Gene

Pathways & Interactions for TDRD12 Gene

genes like me logo Genes that share pathways with TDRD12: view

Pathways by source for TDRD12 Gene

Gene Ontology (GO) - Biological Process for TDRD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007140 male meiotic nuclear division IMP,ISS --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IMP,ISS --
GO:0009566 fertilization IMP,ISS --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with TDRD12: view

No data available for SIGNOR curated interactions for TDRD12 Gene

Drugs & Compounds for TDRD12 Gene

No Compound Related Data Available

Transcripts for TDRD12 Gene

mRNA/cDNA for TDRD12 Gene

3 REFSEQ mRNAs :
4 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 TDRD12

Alternative Splicing Database (ASD) splice patterns (SP) for TDRD12 Gene

No ASD Table

Relevant External Links for TDRD12 Gene

GeneLoc Exon Structure for
TDRD12

Expression for TDRD12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TDRD12 Gene

mRNA differential expression in normal tissues according to GTEx for TDRD12 Gene

This gene is overexpressed in Testis (x17.8).

Protein differential expression in normal tissues from HIPED for TDRD12 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (53.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TDRD12 Gene



Protein tissue co-expression partners for TDRD12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TDRD12

SOURCE GeneReport for Unigene cluster for TDRD12 Gene:

Hs.646351
genes like me logo Genes that share expression patterns with TDRD12: view

Primer Products

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 TDRD12 Gene

Orthologs for TDRD12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TDRD12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TDRD12 30 31
  • 99.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tdrd12 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 36 (a)
OneToMany
-- 31
OneToMany
Dog
(Canis familiaris)
Mammalia TDRD12 31
  • 24 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TDRD12 31
  • 24 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TDRD12 31
  • 17 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TDRD12 31
  • 14 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TDRD12 31
  • 1 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii TDRD12 31
  • 8 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 12 (a)
OneToOne
Species where no ortholog for TDRD12 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rat (Rattus norvegicus)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for TDRD12 Gene

ENSEMBL:
Gene Tree for TDRD12 (if available)
TreeFam:
Gene Tree for TDRD12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TDRD12: view image

Paralogs for TDRD12 Gene

Paralogs for TDRD12 Gene

genes like me logo Genes that share paralogs with TDRD12: view

Variants for TDRD12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TDRD12 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1262515590 Uncertain Significance: not specified 32,803,022(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TDRD12 Gene

Structural Variations from Database of Genomic Variants (DGV) for TDRD12 Gene

Variant ID Type Subtype PubMed ID
dgv1768n106 CNV deletion 24896259
dgv518e201 CNV deletion 23290073
dgv6403n54 CNV gain+loss 21841781
esv1422310 CNV deletion 17803354
esv24839 CNV gain 19812545
esv2527998 CNV deletion 19546169
esv2670459 CNV deletion 23128226
esv2718461 CNV deletion 23290073
esv2718464 CNV deletion 23290073
esv2718466 CNV deletion 23290073
esv29523 CNV loss 19812545
esv3449927 CNV insertion 20981092
esv3644177 CNV loss 21293372
nsv1067189 CNV loss 25217958
nsv1071528 CNV deletion 25765185
nsv1077339 CNV duplication 25765185
nsv1146802 CNV duplication 26484159
nsv458535 CNV loss 19166990
nsv511617 CNV loss 21212237
nsv518446 CNV loss 19592680
nsv579311 CNV gain 21841781
nsv579312 CNV gain 21841781
nsv579313 CNV gain+loss 21841781
nsv579314 CNV loss 21841781
nsv579318 CNV loss 21841781
nsv579322 CNV loss 21841781
nsv579323 CNV loss 21841781
nsv579324 CNV loss 21841781
nsv579325 CNV loss 21841781
nsv953276 CNV deletion 24416366

Variation tolerance for TDRD12 Gene

Gene Damage Index Score: 9.00; 87.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TDRD12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TDRD12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TDRD12 Gene

Disorders for TDRD12 Gene

No disorders were found for TDRD12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TDRD12 Gene

Publications for TDRD12 Gene

  1. The homeoprotein Nanog is required for maintenance of pluripotency in mouse epiblast and ES cells. (PMID: 12787504) Mitsui K … Yamanaka S (Cell 2003) 3 4
  2. Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution. (PMID: 11441184) Dehal P … Stubbs L (Science (New York, N.Y.) 2001) 2 3
  3. Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia. (PMID: 32059713) Babakhanzadeh E … Ghasemi N (BMC medical genetics 2020) 3
  4. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. (PMID: 24270810) Hasson SA … Youle RJ (Nature 2013) 3
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) Köttgen A … Fox CS (Nature genetics 2010) 3

Products for TDRD12 Gene

Sources for TDRD12 Gene