TRABD2A Gene
TraB Domain Containing 2A
Gene Information Card
| Symbol | TRABD2A |
|---|---|
| Full Name | TraB Domain Containing 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 129293 ncbi.nlm.nih.gov/gene/129293 |
| Ensembl ID | ENSG00000162931 |
| UniProt ID | Q86V40 |
| OMIM ID | 618738 |
| HGNC ID | 29398 |
| Aliases | C2orf69, MGC26717 |
Description
TRABD2A (TraB Domain Containing 2A) is a protein-coding gene located on chromosome 2p13.1. The encoded protein contains a TraB domain, which is involved in membrane fusion and protein transport. TRABD2A is expressed in various tissues and has been implicated in cellular processes including vesicle trafficking and mitochondrial function. Mutations in this gene are associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 53 | Loss-of-function mutations impair mitochondrial function | ClinVar, OMIM |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Biallelic pathogenic variants disrupt protein function | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Liver | 6.5 | Low |
| Heart | 5.2 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely damaging |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, causing mitochondrial dysfunction.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • mitochondrion (GO:0005739) |
| • integral component of membrane (GO:0016021) | • metal ion binding (GO:0046872) |
Pathways
• Mitochondrial dysfunction (Reactome: R-HSA-8949215)
Protein Summary
The TRABD2A protein (UniProt Q86V40) is a 304-amino acid transmembrane protein containing a TraB domain. It localizes to mitochondria and is involved in mitochondrial protein import and membrane fusion. The protein is expressed in multiple tissues, with highest levels in testis. Pathogenic variants cause combined oxidative phosphorylation deficiency 53, characterized by neurological impairment and metabolic acidosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRABD2A Knockout HEK293 Cell Line | EDJ-KQ9213 | Human | 129293 | 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 |
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