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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

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, Autosomal Dominant and Childhood-Onset Nemaline Myopathy. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KLHL42.

UniProtKB/Swiss-Prot for KBTBD13 Gene

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

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

Regulatory Elements for KBTBD13 Gene

Enhancers for KBTBD13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G065053 1.4 Ensembl ENCODE dbSUPER 12.1 -21.6 -21638 2.4 PKNOX1 ARID4B SIN3A ZNF48 YY1 ZNF143 DEK SP5 MXD4 REST UBAP1L SPG21 MTFMT KBTBD13 RASL12 RNU5B-1 RBPMS2 MIR1272 ENSG00000277351 PIR51727
GH15G065032 1.3 Ensembl ENCODE 11 -43.4 -43413 1.3 PKNOX1 ATF1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 RASL12 KBTBD13 RNU5B-1 MTFMT SLC51B
GH15G065101 1.2 Ensembl ENCODE dbSUPER 11.5 +25.3 25272 1.5 CTCF HMG20B RNF2 TRIM22 ARID4B REST RAD21 ZNF366 HDAC2 POLR2A RASL12 KBTBD13 RNU5B-1 ENSG00000249240 PLEKHO2 ENSG00000259258 LOC105370862
GH15G065048 0.9 ENCODE 12 -26.9 -26930 1.9 HDAC1 PKNOX1 FOXA2 ATF1 SIN3A BMI1 ZBTB7B ZBTB40 RFX5 EGR1 SPG21 UBAP1L MTFMT KBTBD13 RASL12 MIR1272 ANKDD1A ENSG00000277351 PIR51727
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KBTBD13 on UCSC Golden Path with GeneCards custom track

Genomic Location for KBTBD13 Gene

65,076,816 bp from pter
65,079,938 bp from pter
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

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 --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
endoplasmic reticulum 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 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

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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 35
  • 99.08 (n)
(Canis familiaris)
Mammalia KBTBD13 34
  • 91.27 (n)
(Bos Taurus)
Mammalia KBTBD13 34 35
  • 88.43 (n)
(Mus musculus)
Mammalia Kbtbd13 34 16 35
  • 83.11 (n)
(Monodelphis domestica)
Mammalia KBTBD13 35
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia KBTBD13 35
  • 73 (a)
(Gallus gallus)
Aves KBTBD13 34 35
  • 69.7 (n)
(Anolis carolinensis)
Reptilia KBTBD13 35
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489313 34
  • 57.11 (n)
(Danio rerio)
Actinopterygii KBTBD13 (3 of 3) 35
  • 53 (a)
KBTBD13 (2 of 3) 35
  • 49 (a)
KBTBD13 (1 of 3) 35
  • 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)

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 Sequence Context AA Info Type
rs200549195 Pathogenic, Nemaline myopathy 6 (NEM6) [MIM:609273] 65,077,557(+) AGCCG(A/C/T)GCTAT upstream-variant-2KB, reference, missense
rs387907090 Pathogenic, Nemaline myopathy 6 (NEM6) [MIM:609273] 65,078,037(+) TCAAC(A/C/T)GCATG upstream-variant-2KB, reference, missense
VAR_064890 Nemaline myopathy 6 (NEM6) [MIM:609273]
rs111801368 Likely benign 65,079,314(+) CTCCT(C/T)CTCTC utr-variant-3-prime
rs116406369 Likely benign 65,078,178(+) CGACA(A/G)CGGCA upstream-variant-2KB, reference, missense

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

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

Variation tolerance for KBTBD13 Gene

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

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 6, autosomal dominant
  • nemaline myopathy 6
childhood-onset nemaline myopathy
  • mild nemaline myopathy
kbtbd13-related nemaline myopathy
  • nemaline myopathy 6
nemaline myopathy
  • nemaline body disease
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.

Relevant External Links for KBTBD13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Biochem. Biophys. Res. Commun. 2012) 2 3 4 64
  2. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (PMID: 21109227) Sambuughin N. … Goldfarb L.G. (Am. J. Hum. Genet. 2010) 2 3 4 64
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  4. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 4 64
  5. Sequence and structural analysis of BTB domain proteins. (PMID: 16207353) Stogios P.J. … PrivAc G.G. (Genome Biol. 2005) 3 64

Products for KBTBD13 Gene

Sources for KBTBD13 Gene

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