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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KBTBD13
kelch repeat and BTB domain containing 13
Chromosome 15 Β· 15q22.31
NCBI Gene: 390594Ensembl: ENSG00000234438.5HGNC: HGNC:37227UniProt: C9JR72
13PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingrelaxation of skeletal muscleregulation of the force of skeletal muscle contractionproteasome-mediated ubiquitin-dependent protein catabolic processnemaline myopathy 6neurodegenerative diseasenemaline myopathychildhood-onset nemaline myopathy
✦AI Summary

KBTBD13 is a striated muscle-expressed protein that functions as a substrate-specific adapter of the BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex 1. The protein localizes to the sarcomere where it directly binds actin, a major thin filament constituent, modulating muscle kinetics and relaxation 12. Mutations in KBTBD13, particularly the Dutch founder variant p.Arg408Cys, cause nemaline myopathy type 6 (NEM6), an autosomal-dominant disorder characterized by nemaline rods and core lesions in skeletal myofibers 3. Disease-associated mutations alter KBTBD13's effects on actin structure, increasing thin-filament stiffness and impairing muscle-relaxation kinetics, which leads to muscle weakness and slow relaxation compromising daily activities 21. Beyond skeletal muscle involvement, KBTBD13 variants are associated with cardiac dysfunction; approximately 29% of NEM6 patients develop reduced left ventricular ejection fraction, with some experiencing sudden cardiac death 4. Mouse models show that p.R408C variants cause mild diastolic dysfunction while KBTBD13 deficiency produces systolic dysfunction 4. These findings indicate KBTBD13 should be included in cardiomyopathy gene panels and that NEM6 patients require cardiac evaluation 4.

Sources cited
1
KBTBD13 binds actin and modulates muscle relaxation kinetics; mutations cause structural thin-filament changes underlying NEM6 pathology
PMID: 31671076
2
KBTBD13 localizes to sarcomere and binds actin; mutations increase thin-filament stiffness and depress contractile force and relaxation
PMID: 31904591
3
KBTBD13 mutations cause nemaline myopathy type 6; contains BTB/POZ domain and Kelch repeats; expressed in skeletal and cardiac muscle
PMID: 21109227
4
KBTBD13 variants associated with cardiac dysfunction including dilated ventricles, reduced ejection fraction, arrhythmias, and sudden cardiac death; should be added to cardiomyopathy panels
PMID: 36335629
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
nemaline myopathy 6Open Targets
0.74Strong
neurodegenerative diseaseOpen Targets
0.43Moderate
nemaline myopathyOpen Targets
0.37Weak
childhood-onset nemaline myopathyOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
intrinsic cardiomyopathyOpen Targets
0.18Weak
colorectal cancer, susceptibility to, 12Open Targets
0.12Weak
congenital myopathy 2a, typical, autosomal dominantOpen Targets
0.12Weak
severe congenital nemaline myopathyOpen Targets
0.12Weak
Thomsen and Becker diseaseOpen Targets
0.06Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.06Suggestive
paramyotonia congenita of Von EulenburgOpen Targets
0.05Suggestive
myopathy, distal, 5Open Targets
0.05Suggestive
Autosomal dominant limb-girdle muscular dystrophy type 1DOpen Targets
0.05Suggestive
exercise intolerance, riboflavin-responsiveOpen Targets
0.05Suggestive
distal myopathyOpen Targets
0.05Suggestive
GNE myopathyOpen Targets
0.05Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.05Suggestive
tibial muscular dystrophyOpen Targets
0.05Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2HOpen Targets
0.05Suggestive
Nemaline myopathy 6UniProt
Pathogenic Variants3
NM_001101362.3(KBTBD13):c.1170G>T (p.Lys390Asn)Likely pathogenic
Nemaline myopathy 6|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 390
NM_001101362.3(KBTBD13):c.1170G>C (p.Lys390Asn)Likely pathogenic
Nemaline myopathy 6
β˜…β˜†β˜†β˜†2024β†’ Residue 390
NM_001101362.3(KBTBD13):c.1222C>T (p.Arg408Cys)Pathogenic
Nemaline myopathy 6
β˜…β˜†β˜†β˜†2022β†’ Residue 408
View on ClinVar β†—
Related Genes
IPPShared pathway100%SH3BGRLShared pathway100%ARMC8Shared pathway100%UBXN7Shared pathway100%KLHL5Shared pathway100%KLHL28Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Ovary
0%
Lung
0%
Brain
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KBTBD13IPPSH3BGRLARMC8UBXN7KLHL5KLHL28
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt C9JR72
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.74 [1.26–1.96]
RankingsWhere KBTBD13 stands among ~20K protein-coding genes
  • #16,195of 20,598
    Most Researched13
  • #4,165of 5,498
    Most Pathogenic Variants3
  • #17,745of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedKBTBD13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
KBTBD13 and the ever-expanding sarcomeric universe.
PMID: 31904591
J Clin Invest Β· 2020
0.90
3
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
PMID: 34627702
Neuromuscul Disord Β· 2021
0.80
4
KBTBD13 is a novel cardiomyopathy gene.
PMID: 36335629
Hum Mutat Β· 2022
0.70
5
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
PMID: 31671076
J Clin Invest Β· 2020
0.60