KBTBD13 Gene: Kelch Repeat and BTB Domain Containing 13
Genetic insights into nemaline myopathy and skeletal muscle function
Gene Information Card
| Symbol | KBTBD13 |
|---|---|
| Full Name | Kelch repeat and BTB domain containing 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 390594 ncbi.nlm.nih.gov/gene/390594 |
| Ensembl ID | ENSG00000137801 |
| UniProt ID | Q8IUE6 |
| OMIM ID | 613727 |
| HGNC ID | 28605 |
| Aliases | FLJ39051, MGC131944 |
Description
The KBTBD13 gene encodes a protein containing a BTB/POZ domain and multiple Kelch repeats, which are characteristic of proteins involved in protein-protein interactions and ubiquitination. It is predominantly expressed in skeletal muscle and plays a role in muscle development and function. Mutations in KBTBD13 are associated with nemaline myopathy type 6 (NEM6), a rare congenital myopathy characterized by muscle weakness and the presence of nemaline rods in muscle fibers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nemaline Myopathy 6 (NEM6) | Missense mutations in KBTBD13 lead to altered protein function, likely affecting actin filament dynamics or ubiquitin-proteasome pathway, resulting in muscle weakness and nemaline rod formation. | ClinVar and OMIM report pathogenic variants in KBTBD13 associated with NEM6. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | High |
| Heart | 4.2 | Medium |
| Brain | 1.1 | Low |
| Liver | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH30 (rhabdomyosarcoma) | 8.7 | Muscle-derived cell line |
| A549 (lung carcinoma) | 0.2 | Low expression |
| HeLa (cervical carcinoma) | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121C>T (p.Arg41Cys) | Missense | Rare | Pathogenic; associated with NEM6 |
| c.122G>A (p.Arg41His) | Missense | Rare | Pathogenic; associated with NEM6 |
| c.125C>T (p.Thr42Met) | Missense | Rare | Pathogenic; associated with NEM6 |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; most mutations are missense and may not cause complete loss of function.
Gain of Function (GOF)
Possible gain-of-function or dominant-negative effect, as mutations are inherited in an autosomal dominant pattern.
Dominant Negative (DN)
Likely mechanism; mutant protein may interfere with normal protein function in muscle cells.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin-protein transferase activity |
| • actin binding | • skeletal muscle contraction |
| • muscle organ development |
Pathways
• Ubiquitin-mediated proteolysis
• Muscle contraction
Protein Summary
The KBTBD13 protein is a 748-amino acid protein with a BTB/POZ domain at the N-terminus and six Kelch repeats at the C-terminus. It is localized in the cytoplasm and possibly in the nucleus. It is involved in protein-protein interactions and may function as a substrate-specific adapter for Cullin-RING E3 ubiquitin ligases, targeting proteins for degradation. In skeletal muscle, it may regulate actin filament organization and muscle contraction. Mutations in KBTBD13 disrupt these processes, leading to nemaline myopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KBTBD13 Knockout HEK293 Cell Line | EDJ-KQ13890 | Human | 390594 | Details Get a Quote |
| KBTBD13 Knockout HeLa Cell Line | EDJ-KQ60183 | Human | 390594 | Details Get a Quote |
| KBTBD13 Knockout A-549 Cell Line | EDJ-KQ68644 | Human | 390594 | Details Get a Quote |
| KBTBD13 Knockout HCT 116 Cell Line | EDJ-KQ77013 | Human | 390594 | Details Get a Quote |
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