| HGNC Family | BTB (POZ) domain containing (BTBD) |
| Name | kelch repeat and BTB (POZ) domain containing 13 |
| Description | The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KBTBD13 is a muscle‐specific protein that contains an N‐terminal BTB (POZ) domain and multiple C‐terminal Kelch repeats, and it plays an important role in regulating sarcomeric function. Early studies identified mutations in KBTBD13 as the cause of nemaline myopathy type 6, a congenital disorder characterized by the presence of nemaline rods, core lesions, and notably impaired muscle relaxation kinetics."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " More detailed investigations revealed that KBTBD13 interacts directly with the E3 ubiquitin ligase scaffold Cullin 3 via its BTB domain, thereby functioning as a substrate adaptor in a muscle‐specific Cullin 3–based RING ubiquitin ligase complex; this activity implicates the ubiquitin–proteasome system in the regulation of key sarcomeric proteins."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition, functional and structural studies demonstrated that KBTBD13 localizes to the sarcomere and directly binds to actin, suggesting that it also modulates thin filament properties; disease‐causing mutations in KBTBD13 disrupt this interaction, increasing the stiffness of thin filaments and impairing both force generation and relaxation dynamics."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Consistently, clinical findings in affected patients further support a model in which altered interaction of mutant KBTBD13 with actin contributes to the distinctive rod–core pathology observed in nemaline myopathy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}, {"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Together, these data indicate that KBTBD13 has a dual role in skeletal muscle by both targeting proteins for ubiquitination through Cullin 3 and by directly interacting with actin to modulate sarcomeric architecture and contractility. Further studies are required to delineate the precise regulatory networks in which KBTBD13 participates and to explore potential therapeutic approaches for KBTBD13‐associated myopathies.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Nyamkhishig Sambuughin, Kyle S Yau, Montse Olivé, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2010.10.020"}], "href": "https://doi.org/10.1016/j.ajhg.2010.10.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21109227"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21109227"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Karlijn Bouman, Benno Küsters, Josine M De Winter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neuropathol Exp Neurol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jnen/nlab012"}], "href": "https://doi.org/10.1093/jnen/nlab012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33693846"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33693846"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Nyamkhishig Sambuughin, Wieslaw Swietnicki, Stephen Techtmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2012.04.074"}], "href": "https://doi.org/10.1016/j.bbrc.2012.04.074"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22542517"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22542517"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Josine M de Winter, Joery P Molenaar, Michaela Yuen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KBTBD13 is an actin-binding protein that modulates muscle kinetics."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI124000"}], "href": "https://doi.org/10.1172/JCI124000"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31671076"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31671076"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Stuart G Campbell, Steven A Niederer "}, {"type": "b", "children": [{"type": "t", "text": "KBTBD13 and the ever-expanding sarcomeric universe."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI132954"}], "href": "https://doi.org/10.1172/JCI132954"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31904591"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31904591"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zhi-Xia Kang, Xiao-Jing Wei, Jing Miao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuropathology (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/neup.12610"}], "href": "https://doi.org/10.1111/neup.12610"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31828823"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31828823"}]}]}]}
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| Synonyms | HCG1645727, NEM6 |
| Proteins | KBTBD_HUMAN |
| NCBI Gene ID | 390594 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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KBTBD13 has 2,262 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 67 datasets.
Click the + buttons to view associations for KBTBD13 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of KBTBD13 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of KBTBD13 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of KBTBD13 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of KBTBD13 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of KBTBD13 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with KBTBD13 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of KBTBD13 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of KBTBD13 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of KBTBD13 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with KBTBD13 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with KBTBD13 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of KBTBD13 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing KBTBD13 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with KBTBD13 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with KBTBD13 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with KBTBD13 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Disease Associations | diseases associated with KBTBD13 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by KBTBD13 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving KBTBD13 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving KBTBD13 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with KBTBD13 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with KBTBD13 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with KBTBD13 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with KBTBD13 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at KBTBD13 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of KBTBD13 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of KBTBD13 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing KBTBD13 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with KBTBD13 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of KBTBD13 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of KBTBD13 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of KBTBD13 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of KBTBD13 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of KBTBD13 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of KBTBD13 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving KBTBD13 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving KBTBD13 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving KBTBD13 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing KBTBD13 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of KBTBD13 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of KBTBD13 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of KBTBD13 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of KBTBD13 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of KBTBD13 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of KBTBD13 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with KBTBD13 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for KBTBD13 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of KBTBD13 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of KBTBD13 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of KBTBD13 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of KBTBD13 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain KBTBD13 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by KBTBD13 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with KBTBD13 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for KBTBD13 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of KBTBD13 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Reactome Pathways 2024 | pathways involving KBTBD13 protein from the Reactome Pathways 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of KBTBD13 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of KBTBD13 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of KBTBD13 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of KBTBD13 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of KBTBD13 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of KBTBD13 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of KBTBD13 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of KBTBD13 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with KBTBD13 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with KBTBD13 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
