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Aliases for TDRD7 Gene

Aliases for TDRD7 Gene

  • Tudor Domain Containing 7 2 3 5
  • PCTAIRE2-Binding Protein 3 4
  • PCTAIRE2BP 3 4
  • TRAP 3 4
  • Tudor Repeat Associator With PCTAIRE 2 3
  • Tudor Repeat Associator With PCTAIRE-2 4
  • Tudor Domain-Containing Protein 7 3
  • CATC4 3

External Ids for TDRD7 Gene

Previous GeneCards Identifiers for TDRD7 Gene

  • GC09P095555
  • GC09P097253
  • GC09P099214
  • GC09P100174
  • GC09P069775

Summaries for TDRD7 Gene

Entrez Gene Summary for TDRD7 Gene

  • The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for TDRD7 Gene

TDRD7 (Tudor Domain Containing 7) is a Protein Coding gene. Diseases associated with TDRD7 include Cataract 36. Among its related pathways are Aurora A signaling. GO annotations related to this gene include protein N-terminus binding and mRNA binding. An important paralog of this gene is TDRKH.

UniProtKB/Swiss-Prot for TDRD7 Gene

  • Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis.

Gene Wiki entry for TDRD7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TDRD7 Gene

Genomics for TDRD7 Gene

Regulatory Elements for TDRD7 Gene

Enhancers for TDRD7 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
GH09G097631 1.4 ENCODE dbSUPER 10.7 +221.5 221464 4.0 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 GLIS1 LOC441454 ENSG00000224848 ZNF510 MFSD14C NCBP1 TDRD7 LOC105376171 TMOD1 GC09P097607 PIR37261
GH09G096856 1.3 Ensembl ENCODE 11 -554.2 -554202 3.0 HDGF PKNOX1 FOXA2 ATF1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF48 ENSG00000224848 TDRD7 LOC100132781 ZNF510
GH09G097524 1.4 Ensembl ENCODE dbSUPER 10.2 +115.6 115555 5.8 BRCA1 RFX5 ZNF143 RCOR1 FOS ETV6 IKZF2 SMARCA5 CBFB CEBPB TMOD1 LOC105376168 TDRD7 ANKRD18CP ENSG00000203279 AAED1 CCDC180 PIR34153
GH09G097380 1.2 ENCODE dbSUPER 11.5 -29.7 -29718 2.5 ARID4B YY1 TCF12 NCOA1 PPARG KAT8 ZNF592 MEF2D MBD2 SMARCA4 CCDC180 TDRD7 VN1R51P LOC105376167 MIR1302-8
GH09G097468 0.8 ENCODE 11 +57.1 57097 1.6 CTCF ZNF146 NFIB TBL1XR1 ARNT MAX EBF1 RAD21 RELA RFX5 TMOD1 TDRD7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TDRD7 on UCSC Golden Path with GeneCards custom track

Promoters for TDRD7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000238512 350 1801 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF207 ZNF143 KLF13 ZNF263

Genomic Location for TDRD7 Gene

Chromosome:
9
Start:
97,411,950 bp from pter
End:
97,496,125 bp from pter
Size:
84,176 bases
Orientation:
Plus strand

Genomic View for TDRD7 Gene

Genes around TDRD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TDRD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TDRD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TDRD7 Gene

Proteins for TDRD7 Gene

  • Protein details for TDRD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHU6-TDRD7_HUMAN
    Recommended name:
    Tudor domain-containing protein 7
    Protein Accession:
    Q8NHU6
    Secondary Accessions:
    • A6NCI6
    • B2RBX3
    • B4DG99
    • B4DXF7
    • E7EQD4
    • Q5VV27
    • Q96JT1
    • Q9UFF0
    • Q9Y2M3

    Protein attributes for TDRD7 Gene

    Size:
    1098 amino acids
    Molecular mass:
    123586 Da
    Quaternary structure:
    • Found in a mRNP complex, at least composed of TDRD1, TDRD6, TDRD7 and DDX4. Found in a complex containing CABLES1, CDK16 and CDK17. Interacts with CABLES1, CDK17 and PIWIL1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for TDRD7 Gene

    Alternative splice isoforms for TDRD7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TDRD7 Gene

Post-translational modifications for TDRD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TDRD7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TDRD7 Gene

Domains & Families for TDRD7 Gene

Gene Families for TDRD7 Gene

Protein Domains for TDRD7 Gene

Suggested Antigen Peptide Sequences for TDRD7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NHU6

UniProtKB/Swiss-Prot:

TDRD7_HUMAN :
  • Belongs to the TDRD7 family.
Family:
  • Belongs to the TDRD7 family.
genes like me logo Genes that share domains with TDRD7: view

Function for TDRD7 Gene

Molecular function for TDRD7 Gene

UniProtKB/Swiss-Prot Function:
Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis.

Gene Ontology (GO) - Molecular Function for TDRD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IDA 21436445
GO:0005515 protein binding IPI 14603251
GO:0047485 protein N-terminus binding IEA --
genes like me logo Genes that share ontologies with TDRD7: view
genes like me logo Genes that share phenotypes with TDRD7: view

Human Phenotype Ontology for TDRD7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TDRD7 Gene

MGI Knock Outs for TDRD7:

Animal Model Products

CRISPR Products

miRNA for TDRD7 Gene

miRTarBase miRNAs that target TDRD7

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TDRD7

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TDRD7 Gene

Localization for TDRD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TDRD7 Gene

Cytoplasm. Note=Localizes to cytoplasmic RNA granules. 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 (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 TDRD7 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for TDRD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005759 mitochondrial matrix IEA --
GO:0033391 chromatoid body ISS --
GO:0035770 ribonucleoprotein granule IDA 21436445
genes like me logo Genes that share ontologies with TDRD7: view

Pathways & Interactions for TDRD7 Gene

SuperPathways for TDRD7 Gene

SuperPathway Contained pathways
1 Aurora A signaling
genes like me logo Genes that share pathways with TDRD7: view

Pathways by source for TDRD7 Gene

1 BioSystems pathway for TDRD7 Gene

Gene Ontology (GO) - Biological Process for TDRD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002089 lens morphogenesis in camera-type eye IMP 21436445
GO:0007283 spermatogenesis ISS --
GO:0010608 posttranscriptional regulation of gene expression IMP 21436445
GO:0030154 cell differentiation IEA --
GO:0070306 lens fiber cell differentiation IMP 21436445
genes like me logo Genes that share ontologies with TDRD7: view

No data available for SIGNOR curated interactions for TDRD7 Gene

Drugs & Compounds for TDRD7 Gene

No Compound Related Data Available

Transcripts for TDRD7 Gene

mRNA/cDNA for TDRD7 Gene

Unigene Clusters for TDRD7 Gene

Tudor domain containing 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TDRD7

Alternative Splicing Database (ASD) splice patterns (SP) for TDRD7 Gene

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

Relevant External Links for TDRD7 Gene

GeneLoc Exon Structure for
TDRD7
ECgene alternative splicing isoforms for
TDRD7

Expression for TDRD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TDRD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TDRD7 Gene

This gene is overexpressed in Breast (14.7), Ovary (12.0), Retina (11.5), and Testis (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TDRD7 Gene



NURSA nuclear receptor signaling pathways regulating expression of TDRD7 Gene:

TDRD7

SOURCE GeneReport for Unigene cluster for TDRD7 Gene:

Hs.193842

Evidence on tissue expression from TISSUES for TDRD7 Gene

  • Nervous system(4.3)
  • Eye(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TDRD7 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Organs:
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with TDRD7: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TDRD7 Gene

Orthologs for TDRD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for TDRD7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TDRD7 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia TDRD7 34 35
  • 91.5 (n)
cow
(Bos Taurus)
Mammalia TDRD7 34 35
  • 90.5 (n)
rat
(Rattus norvegicus)
Mammalia Tdrd7 34
  • 84.38 (n)
mouse
(Mus musculus)
Mammalia Tdrd7 34 16 35
  • 83.61 (n)
oppossum
(Monodelphis domestica)
Mammalia TDRD7 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TDRD7 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TDRD7 34 35
  • 62.83 (n)
lizard
(Anolis carolinensis)
Reptilia TDRD7 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tdrd7 34
  • 61.69 (n)
Str.16511 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3586 34
zebrafish
(Danio rerio)
Actinopterygii tdrd7b 34
  • 57.71 (n)
TDRD7B 35
  • 48 (a)
OneToMany
tdrd7 35
  • 43 (a)
OneToMany
wufi12c12 34
fruit fly
(Drosophila melanogaster)
Insecta papi 35
  • 12 (a)
OneToMany
Species where no ortholog for TDRD7 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TDRD7 Gene

ENSEMBL:
Gene Tree for TDRD7 (if available)
TreeFam:
Gene Tree for TDRD7 (if available)

Paralogs for TDRD7 Gene

Paralogs for TDRD7 Gene

genes like me logo Genes that share paralogs with TDRD7: view

Variants for TDRD7 Gene

Sequence variations from dbSNP and Humsavar for TDRD7 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10982012 Likely benign 97,412,112(+) CAAGC(C/G/T)GCGGG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs115297535 Likely benign 97,472,420(+) ACCTC(A/G)GGAGA nc-transcript-variant, reference, synonymous-codon
rs13290426 Likely benign 97,432,252(+) CCTCT(A/G)ACTCA intron-variant
rs201253435 Likely benign 97,473,633(+) TATAG(C/T)AGAAC intron-variant
rs41281938 Likely benign 97,472,474(+) GACAA(A/G)TCACT nc-transcript-variant, reference, synonymous-codon

Variation tolerance for TDRD7 Gene

Residual Variation Intolerance Score: 4.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TDRD7 Gene

Human Gene Mutation Database (HGMD)
TDRD7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TDRD7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TDRD7 Gene

Disorders for TDRD7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TDRD7 Gene - From: OMIM, ClinVar, GeneTests, and GeneCards

Disorder Aliases PubMed IDs
cataract 36
  • autosomal recessive congenital cataract 4
- elite association - COSMIC cancer census association via MalaCards
Search TDRD7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TDRD7_HUMAN
  • Cataract 36 (CTRCT36) [MIM:613887]: An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269 PubMed:21436445}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TDRD7

Genetic Association Database (GAD)
TDRD7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TDRD7
genes like me logo Genes that share disorders with TDRD7: view

No data available for Genatlas for TDRD7 Gene

Publications for TDRD7 Gene

  1. Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. (PMID: 21436445) Lachke S.A. … Maas R.L. (Science 2011) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Identification of tudor repeat associator with PCTAIRE 2 (Trap). A novel protein that interacts with the N-terminal domain of PCTAIRE 2 in rat brain. (PMID: 10727952) Hirose T. … Okada M. (Eur. J. Biochem. 2000) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for TDRD7 Gene

  • Addgene plasmids for TDRD7

Sources for TDRD7 Gene

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