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Aliases for KBTBD13 Gene

Aliases for KBTBD13 Gene

  • Kelch Repeat And BTB Domain Containing 13 2 3 5
  • Kelch Repeat And BTB (POZ) Domain Containing 13 2 3
  • Nemaline Myopathy Type 6 2 3
  • Kelch Repeat And BTB Domain-Containing Protein 13 3
  • HCG1645727 3
  • NEM6 3

External Ids for KBTBD13 Gene

Previous GeneCards Identifiers for KBTBD13 Gene

  • GC15P065369
  • GC15P042193
  • GC15P065099
  • GC15P065435
  • GC15P065464
  • GC15P066312
  • GC15P066862
  • GC15P067387
  • GC15P067910
  • GC15P068400

Summaries for KBTBD13 Gene

Entrez Gene Summary for KBTBD13 Gene

  • 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]

GeneCards Summary for KBTBD13 Gene

KBTBD13 (Kelch Repeat And BTB Domain Containing 13) is a Protein Coding gene. Diseases associated with KBTBD13 include Nemaline Myopathy 6 and Childhood-Onset Nemaline Myopathy. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is KBTBD11.

UniProtKB/Swiss-Prot for KBTBD13 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.

Additional gene information for KBTBD13 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KBTBD13 Gene

Genomics for KBTBD13 Gene

GeneHancer (GH) Regulatory Elements for KBTBD13 Gene

Promoters and enhancers for KBTBD13 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J065077 Enhancer 0.8 ENCODE dbSUPER 650.7 +1.3 1285 0.4 CTCF L3MBTL2 MAX SIN3A RAD21 ZKSCAN8 ZNF143 ZSCAN29 ZBTB33 RASL12 KBTBD13 UBAP1L LOC105370862
GH15J065076 Enhancer 0.2 dbSUPER 650.7 +0.1 117 0.9 KBTBD13 RASL12 SPG21 LOC105370862
GH15J065048 Promoter/Enhancer 1.4 Ensembl ENCODE 12 -26.9 -26930 1.9 HDAC1 PKNOX1 ATF1 RB1 NEUROD1 SIN3A BMI1 KLF5 ZBTB7B IRF4 ENSG00000277351 SPG21 UBAP1L CSNK1G1 MTFMT RASL12 KBTBD13 ENSG00000259635 ZNF609 MIR1272
GH15J065053 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.1 -21.6 -21638 2.4 PKNOX1 ARID4B SIN3A ZNF48 YY1 ARID2 ZNF143 DEK RXRA SP5 UBAP1L SPG21 MTFMT KBTBD13 RASL12 RNU5B-1 RBPMS2 MIR1272 PIR51727 ENSG00000277351
GH15J065032 Enhancer 1.2 Ensembl ENCODE 11 -43.4 -43412 1.3 PKNOX1 ATF1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 KBTBD13 RASL12 RNU5B-1 MTFMT SLC51B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KBTBD13 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KBTBD13 Gene

Genomic Locations for KBTBD13 Gene
3,123 bases
Plus strand
3,123 bases
Plus strand

Genomic View for KBTBD13 Gene

Genes around KBTBD13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD13 Gene

Proteins for KBTBD13 Gene

  • Protein details for KBTBD13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch repeat and BTB domain-containing protein 13
    Protein Accession:

    Protein attributes for KBTBD13 Gene

    458 amino acids
    Molecular mass:
    49485 Da
    Quaternary structure:
    • Component of the BCR(KBTBD13) E3 ubiquitin ligase complex, at least composed of CUL3 and KBTBD13 and RBX1. Interacts with CUL3.

neXtProt entry for KBTBD13 Gene

Post-translational modifications for KBTBD13 Gene

Other Protein References for KBTBD13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KBTBD13 Gene

Domains & Families for KBTBD13 Gene

Gene Families for KBTBD13 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for KBTBD13 Gene

Suggested Antigen Peptide Sequences for KBTBD13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The BCB domain mediates the interaction with CUL3.
  • The BCB domain mediates the interaction with CUL3.
genes like me logo Genes that share domains with KBTBD13: view

Function for KBTBD13 Gene

Molecular function for KBTBD13 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.

Gene Ontology (GO) - Molecular Function for KBTBD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KBTBD13: view

Human Phenotype Ontology for KBTBD13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD13 Gene

Localization for KBTBD13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KBTBD13 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KBTBD13 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KBTBD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KBTBD13: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KBTBD13 Gene

Pathways & Interactions for KBTBD13 Gene

genes like me logo Genes that share pathways with KBTBD13: view

UniProtKB/Swiss-Prot C9JR72-KBTBD_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KBTBD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with KBTBD13: view

No data available for SIGNOR curated interactions for KBTBD13 Gene

Drugs & Compounds for KBTBD13 Gene

No Compound Related Data Available

Transcripts for KBTBD13 Gene

mRNA/cDNA for KBTBD13 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KBTBD13 Gene

Kelch repeat and BTB (POZ) domain containing 13:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD13 Gene

No ASD Table

Relevant External Links for KBTBD13 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KBTBD13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KBTBD13 Gene

mRNA differential expression in normal tissues according to GTEx for KBTBD13 Gene

This gene is overexpressed in Muscle - Skeletal (x14.1), Heart - Left Ventricle (x11.7), Artery - Tibial (x6.0), and Heart - Atrial Appendage (x5.9).

NURSA nuclear receptor signaling pathways regulating expression of KBTBD13 Gene:


SOURCE GeneReport for Unigene cluster for KBTBD13 Gene:


mRNA Expression by UniProt/SwissProt for KBTBD13 Gene:

Tissue specificity: Expressed in skeletal muscle.

Phenotype-based relationships between genes and organs from Gene ORGANizer for KBTBD13 Gene

Germ Layers:
  • mesoderm
  • skeletal muscle
  • skeleton
Head and neck:
  • neck
  • femur
  • foot
  • hip
  • knee
  • lower limb
  • thigh
  • upper limb
genes like me logo Genes that share expression patterns with KBTBD13: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for KBTBD13 Gene

Orthologs for KBTBD13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD13 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KBTBD13 34 33
  • 99.08 (n)
(Canis familiaris)
Mammalia KBTBD13 33
  • 91.27 (n)
(Bos Taurus)
Mammalia KBTBD13 34 33
  • 88.43 (n)
(Mus musculus)
Mammalia Kbtbd13 16 34 33
  • 83.11 (n)
(Monodelphis domestica)
Mammalia KBTBD13 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia KBTBD13 34
  • 73 (a)
(Gallus gallus)
Aves KBTBD13 34 33
  • 69.7 (n)
(Anolis carolinensis)
Reptilia KBTBD13 34
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489313 33
  • 57.11 (n)
(Danio rerio)
Actinopterygii KBTBD13 (3 of 3) 34
  • 53 (a)
KBTBD13 (2 of 3) 34
  • 49 (a)
KBTBD13 (1 of 3) 34
  • 48 (a)
Species where no ortholog for KBTBD13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KBTBD13 Gene

Gene Tree for KBTBD13 (if available)
Gene Tree for KBTBD13 (if available)
Evolutionary constrained regions (ECRs) for KBTBD13: view image

Paralogs for KBTBD13 Gene

Paralogs for KBTBD13 Gene

genes like me logo Genes that share paralogs with KBTBD13: view

Variants for KBTBD13 Gene

Sequence variations from dbSNP and Humsavar for KBTBD13 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs111801368 likely-benign, Nemaline Myopathy, Dominant 65,079,314(+) C/T 3_prime_UTR_variant
rs111882334 uncertain-significance, Nemaline Myopathy, Dominant 65,079,774(+) C/T 3_prime_UTR_variant
rs115182478 conflicting-interpretations-of-pathogenicity, benign, not specified, Nemaline myopathy 6 65,077,061(+) G/C coding_sequence_variant, synonymous_variant
rs116406369 conflicting-interpretations-of-pathogenicity, likely-benign, benign, not specified, Nemaline Myopathy, Dominant, Nemaline myopathy 6 65,078,178(+) A/G coding_sequence_variant, missense_variant
rs116623596 conflicting-interpretations-of-pathogenicity, likely-benign, benign, not specified, Nemaline Myopathy, Dominant, Nemaline myopathy 6 65,077,943(+) G/A/C coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for KBTBD13 Gene

Variant ID Type Subtype PubMed ID
nsv827363 CNV gain 20364138
esv2763104 CNV gain 21179565

Variation tolerance for KBTBD13 Gene

Gene Damage Index Score: 2.38; 42.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KBTBD13 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD13 Gene

Disorders for KBTBD13 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KBTBD13 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 6
  • nem6
childhood-onset nemaline myopathy
  • mild nemaline myopathy
nemaline myopathy
  • nm
  • muscular diseases
congenital structural myopathy
- elite association - COSMIC cancer census association via MalaCards


  • Nemaline myopathy 6 (NEM6) [MIM:609273]: A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. {ECO:0000269 PubMed:21109227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KBTBD13

genes like me logo Genes that share disorders with KBTBD13: view

No data available for Genatlas for KBTBD13 Gene

Publications for KBTBD13 Gene

  1. KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. (PMID: 22542517) Sambuughin N … Maynard E (Biochemical and biophysical research communications 2012) 2 3 4 58
  2. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (PMID: 21109227) Sambuughin N … Goldfarb LG (American journal of human genetics 2010) 2 3 4 58
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  4. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 4 58
  5. Sequence and structural analysis of BTB domain proteins. (PMID: 16207353) Stogios PJ … Privé GG (Genome biology 2005) 3 58

Products for KBTBD13 Gene

Sources for KBTBD13 Gene

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