TDRD3
Tudor Domain Containing 3: A Scaffold Protein in Transcriptional Regulation and RNA Processing
Gene Information Card
| Symbol | TDRD3 |
|---|---|
| Full Name | Tudor Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q21.33 |
| NCBI Gene ID | 81550 ncbi.nlm.nih.gov/gene/81550 |
| Ensembl ID | ENSG00000102837 |
| UniProt ID | Q9H7E2 |
| OMIM ID | 611211 |
| HGNC ID | 24814 |
| Aliases | FLJ21062, MGC131895 |
Description
TDRD3 encodes a protein containing a Tudor domain, which is involved in recognizing methylated arginine residues on histones and other proteins. It functions as a scaffold in transcriptional activation and RNA processing, interacting with topoisomerase IIIB and the arginine methyltransferase CARM1. TDRD3 is implicated in chromatin remodeling, mRNA splicing, and DNA damage response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | TDRD3 overexpression may promote oncogenic transcriptional programs via co-activator function. | PMID: 23251476 |
| Neurodevelopmental Disorders | Mutations in TDRD3 are associated with intellectual disability and autism spectrum disorder. | ClinVar: rs1555287893 |
| Prostate Cancer | TDRD3 amplification correlates with poor prognosis and androgen receptor signaling. | COSMIC: COSP49467 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Breast | 6.1 | Low |
| Prostate | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney |
| MCF7 | 7.2 | Breast cancer |
| LNCaP | 6.5 | Prostate cancer |
| SH-SY5Y | 5.9 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | <0.01% | Loss of function; associated with neurodevelopmental delay |
| c.1562A>G (p.Tyr521Cys) | Missense | <0.01% | Unknown significance; reported in autism |
| c.2045_2046insA (p.Glu683Glufs*2) | Frameshift | <0.01% | Loss of function; linked to intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, impairing scaffold function and RNA processing.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • mRNA processing (GO:0006397) | • RNA splicing (GO:0008380) |
| • intracellular ribonucleoprotein complex (GO:0030529) | • identical protein binding (GO:0042802) |
| • lysine-acetylated histone binding (GO:0070577) |
Pathways
• Arginine methylation (Reactome: R-HSA-3214842)
• mRNA splicing (Reactome: R-HSA-72163)
• Chromatin organization (Reactome: R-HSA-4839726)
Protein Summary
The TDRD3 protein is a 684-amino-acid scaffold that contains a Tudor domain at its N-terminus, which binds methylated arginine residues. It interacts with CARM1 and topoisomerase IIIB to facilitate transcriptional activation and RNA processing. TDRD3 is predominantly nuclear and is involved in chromatin remodeling, mRNA splicing, and the DNA damage response. Its expression is highest in testis and brain, and dysregulation is linked to cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TDRD3 Knockout HEK293 Cell Line | EDJ-KQ9710 | Human | 81550 | Details Get a Quote |
| TDRD3 Knockout A-549 Cell Line | EDJ-KQ36494 | Human | 81550 | Details Get a Quote |
| TDRD3 Knockout HCT 116 Cell Line | EDJ-KQ36495 | Human | 81550 | Details Get a Quote |
| TDRD3 Knockout HeLa Cell Line | EDJ-KQ36496 | Human | 81550 | Details Get a Quote |
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