TDRD7 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TDRD7 |
| Official Name | tudor domain containing 7 [Source:HGNC Symbol;Acc:HGNC:30831] |
| Ensembl ID | ENSG00000196116 |
| Bio databases IDs | |
| Aliases | tudor domain containing 7 |
| Synonyms | 5730495N10Rik, CATC4, PCTAIRE2BP, TRAP, tudor domain containing 7, TUDOR REPEAT ASSOCIATOR with PCTAIRE2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TDRD7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Tudor domain
- mRNA binding
- LOTUS domain
- OST-HTH/LOTUS domain
- protein binding
- Tudor domain superfamily
Pathways
Biological processes and signaling networks where the TDRD7 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive congenital cataract type 4
- refractive error
- atypical femur fracture
role in cell
- expression in
- phosphorylation in
- differentiation
- apoptosis
- development
- replication in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytoplasmic ribonucleoprotein granule
- ribonucleoprotein granule
- Mitochondria
- sister chromatids
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TDRD7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- posttranscriptional regulation of gene expression
- spermatogenesis
- P granule organization
- piRNA metabolic process
- lens fiber cell differentiation
- lens morphogenesis in camera-type eye
Cellular Component
Where in the cell the gene product is active
- ribonucleoprotein granule
- chromatoid body
- cytoplasm
- P granule
Molecular Function
What the gene product does at the molecular level
- protein binding
- mRNA binding