TDRD7 - tudor domain containing 7 Gene
Also Known as TRAP; CATC4; PCTAIRE2BP
Species: Homo sapiens
About TDRD7
This gene has 2 transcripts (splice variants), 265 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 24.1), duodenum (RPKM 7.8) and 24 other tissues.
Summary
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]
TDRD7 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001302884.2 | NP_001289813.1 | tudor domain-containing protein 7 isoform 2 |
| NM_014290.3 | NP_055105.2 | tudor domain-containing protein 7 isoform 1 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables mRNA binding |
IDA
IDA: Inferred from direct assay
|
21436445 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14603251 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in lens fiber cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
21436445 | GOA |
| involved in lens morphogenesis in camera-type eye |
IMP
IMP: Inferred from mutant phenotype
|
21436445 | GOA |
| involved in post-transcriptional regulation of gene expression |
IMP
IMP: Inferred from mutant phenotype
|
21436445 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in ribonucleoprotein granule |
IDA
IDA: Inferred from direct assay
|
21436445 | GOA |
TDRD7 Protein Structure
OST-HTH: OST-HTH/LOTUS domain (8 - 69)
TUDOR: Tudor domain (460 - 581)
TUDOR: Tudor domain (649 - 774)
TUDOR: Tudor domain (909 - 1026)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1098 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tudor domain-containing protein 7 |
|
TDRD7 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
TDRD7 | Q8NHU6 | CDKN2A | Homo sapiens | P42771 | 21988832 | |
|
Intra
|
TDRD7 | Q8NHU6 | GABPB1 | Homo sapiens | Q06547 | 25416956 | |
|
Intra
|
TDRD7 | Q8NHU6 | TACC1 | Homo sapiens | O75410-1 | 14603251 | |
|
Intra
|
TDRD7 | Q8NHU6 | TACC1 | Homo sapiens | O75410-1 | 14603251 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cataract 36 |
|
|
| Cataract |
|
|
| Deprivation Amblyopia |
|
|
| Deafness, Autosomal Dominant 5 |
|
|
| Ayme-Gripp Syndrome |
|
|
| Differentiating Neuroblastoma |
|
|
| Juvenile Glaucoma |
|
|
| Amblyopia |
|
|
| Anterior Segment Dysgenesis |
|
|
| Spermatogenic Failure |
|
|
| Nanophthalmos |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | TDRD7 | VGNC | VGNC:79886 |
| Rattus norvegicus | TDRD7 | RGD | RGD:619724 |
| Bos taurus | TDRD7 | VGNC | VGNC:35721 |
| Mus musculus | TDRD7 | MGD | MGI:2140279 |
| Felis catus | TDRD7 | VGNC | VGNC:66050 |
| Canis familiaris | TDRD7 | VGNC | VGNC:47225 |
| Others | TDRD7 | NCBI |