TRABD Gene (TraB Domain Containing)
Gene encoding a protein with a TraB domain involved in mitochondrial function and potential roles in cellular processes.
Gene Information Card
| Symbol | TRABD |
|---|---|
| Full Name | TraB Domain Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 80305 ncbi.nlm.nih.gov/gene/80305 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q9H0K6 |
| OMIM ID | 617454 |
| HGNC ID | 25717 |
| Aliases | MGC2650, PRO2730 |
Description
TRABD (TraB Domain Containing) is a protein-coding gene located on chromosome 22q13.33. The encoded protein contains a TraB domain, which is associated with mitochondrial function and may play a role in cellular processes such as protein import or organelle dynamics. Expression data suggest broad tissue distribution, with highest levels in the brain and testis. Limited disease associations have been reported, but variants may contribute to neurodevelopmental or metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Potential loss-of-function variants may disrupt mitochondrial function, affecting neuronal development. | ClinVar |
| Mitochondrial dysfunction | TraB domain involvement in mitochondrial processes suggests variants could impair organelle function. | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Heart | 6.8 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.9 | Moderate expression |
| HeLa | 7.2 | Moderate expression |
| K562 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion | • protein binding |
| • cellular_component |
Pathways
• No curated pathways available
Protein Summary
The TRABD protein (UniProt Q9H0K6) contains a TraB domain, which is evolutionarily conserved and implicated in mitochondrial protein import or membrane dynamics. The protein is predicted to localize to mitochondria and may interact with other mitochondrial components. Its exact function remains under investigation, but it is likely involved in maintaining mitochondrial integrity and cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRABD Knockout HEK293 Cell Line | EDJ-KQ2251 | Human | 80305 | Details Get a Quote |
| TRABD2A Knockout HEK293 Cell Line | EDJ-KQ9213 | Human | 129293 | Details Get a Quote |
| TRABD2B Knockout HEK293 Cell Line | EDJ-KQ15902 | Human | 388630 | Details Get a Quote |
| TRABD2B Knockout HeLa Cell Line | EDJ-KQ49126 | Human | 388630 | Details Get a Quote |
| TRABD Knockout HCT 116 Cell Line | EDJ-KQ21250 | Human | 80305 | Details Get a Quote |
| TRABD Knockout A-549 Cell Line | EDJ-KQ22563 | Human | 80305 | Details Get a Quote |
| TRABD Knockout HeLa Cell Line | EDJ-KQ22564 | Human | 80305 | Details Get a Quote |
| TRABD2A Knockout A-549 Cell Line | EDJ-KQ35771 | Human | 129293 | Details Get a Quote |
| TRABD2A Knockout HCT 116 Cell Line | EDJ-KQ35772 | Human | 129293 | Details Get a Quote |
| TRABD2A Knockout HeLa Cell Line | EDJ-KQ35773 | Human | 129293 | Details Get a Quote |
| TRABD2B Knockout A-549 Cell Line | EDJ-KQ68501 | Human | 388630 | Details Get a Quote |
| TRABD2B Knockout HCT 116 Cell Line | EDJ-KQ76876 | Human | 388630 | Details Get a Quote |
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