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 di... See more...

Aliases for KBTBD13 Gene

Aliases for KBTBD13 Gene

  • Kelch Repeat And BTB Domain Containing 13 2 3 5
  • Kelch Repeat And BTB Domain-Containing Protein 13 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 13 2 3
  • Nemaline Myopathy Type 6 2 3
  • NEM6 2 3
  • HCG_1645727 2
  • HCG1645727 3
  • KBTBD13 5

External Ids for KBTBD13 Gene

Previous GeneCards Identifiers for KBTBD13 Gene

  • GC15P065369
  • GC15P042193
  • GC15P065099
  • GC15P065435
  • GC15P069495
  • GC15P069601
  • GC15P069654
  • GC15P071828
  • GC15P065464
  • GC15P066312
  • GC15P066862
  • GC15P067387
  • GC15P067910
  • GC15P068400
  • GC15P068908
  • GC15P069384

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 Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KLHL17.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for KBTBD13 Gene

Genomics for KBTBD13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KBTBD13 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J065077 Enhancer 0.9 Ensembl ENCODE dbSUPER 600.7 +1.2 1155 1.4 CTCF RAD21 ZSCAN29 SMC3 SIN3A ZNF143 MAX ZBTB33 L3MBTL2 ZKSCAN8 KBTBD13 RASL12 piR-33422-153 SPG21 UBAP1L ENSG00000278737
GH15J065076 Enhancer 0.4 Ensembl dbSUPER 600.7 -0.4 -445 0.6 NFYC KBTBD13 RASL12 piR-33422-153 piR-31470-194 SPG21 SLC51B
GH15J065048 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 12 -26.9 -26860 1.9 SP1 CREB1 RFX1 RFX5 FOS DDX20 ZNF143 PKNOX1 POLR2A REST ENSG00000277351 piR-32214-224 SPG21 UBAP1L MTFMT KBTBD13 RASL12 MIR1272 ANKDD1A SLC51B
GH15J065053 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.1 -20.7 -20650 4.2 HNRNPL CREB1 GATAD2A CTCF TFE3 NFKBIZ RCOR2 LARP7 ZNF143 PKNOX1 SPG21 UBAP1L MTFMT KBTBD13 RASL12 RNU5B-1 RBPMS2 MIR1272 piR-32214-224 SLC51B
GH15J065102 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 11.2 +25.4 25359 1.4 CTCF PHF21A REST RAD21 TRIM22 EZH2 RUNX3 HDAC2 SMC3 SPI1 lnc-PDCD7-1 KBTBD13 RASL12 ENSG00000249240 PLEKHO2 ENSG00000259258 lnc-KBTBD13-1 UBAP1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KBTBD13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KBTBD13

Genomic Locations for KBTBD13 Gene

Genomic Locations for KBTBD13 Gene
chr15:65,076,746-65,079,948
(GRCh38/hg38)
Size:
3,203 bases
Orientation:
Plus strand
chr15:65,369,154-65,372,276
(GRCh37/hg19)
Size:
3,123 bases
Orientation:
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:
    C9JR72-KBTBD_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 13
    Protein Accession:
    C9JR72

    Protein attributes for KBTBD13 Gene

    Size:
    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

HGNC:
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:
  • Kelch repeat and BTB domain-containing protein 13 (KBTBD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

C9JR72

UniProtKB/Swiss-Prot:

KBTBD_HUMAN :
  • The BCB domain mediates the interaction with CUL3.
Domain:
  • 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: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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KBTBD13

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 4
endoplasmic reticulum 3
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KBTBD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
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.

Interacting Proteins for KBTBD13 Gene

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 :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KBTBD13

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

No ASD Table

Relevant External Links for KBTBD13 Gene

GeneLoc Exon Structure for
KBTBD13

Expression for KBTBD13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KBTBD13

SOURCE GeneReport for Unigene cluster for KBTBD13 Gene:

Hs.586890

mRNA Expression by UniProt/SwissProt for KBTBD13 Gene:

C9JR72-KBTBD_HUMAN
Tissue specificity: Expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for KBTBD13 Gene

  • Muscle(2.2)

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

Germ Layers:
  • mesoderm
Systems:
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • neck
Limb:
  • 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 and Protein tissue co-expression partners 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
Chimpanzee
(Pan troglodytes)
Mammalia KBTBD13 30 31
  • 99.08 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KBTBD13 30
  • 91.27 (n)
Cow
(Bos Taurus)
Mammalia KBTBD13 30 31
  • 88.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kbtbd13 30 17 31
  • 83.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KBTBD13 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD13 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KBTBD13 30 31
  • 69.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KBTBD13 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489313 30
  • 57.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii KBTBD13 (3 of 3) 31
  • 53 (a)
OneToMany
KBTBD13 (2 of 3) 31
  • 49 (a)
OneToMany
KBTBD13 (1 of 3) 31
  • 48 (a)
OneToMany
Species where no ortholog for KBTBD13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

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

Paralogs for KBTBD13 Gene

Variants for KBTBD13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KBTBD13 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
31061 Pathogenic: Nemaline myopathy 6 65,077,985(+) G/C MISSENSE_VARIANT
640267 Uncertain Significance: Nemaline myopathy 6 65,077,416(+) CTGGCCGGGG/C INFRAME_DELETION
643197 Uncertain Significance: Nemaline myopathy 6 65,077,357(+) A/C MISSENSE_VARIANT
643647 Uncertain Significance: Nemaline myopathy 6 65,077,927(+) G/C MISSENSE_VARIANT
643919 Uncertain Significance: Nemaline myopathy 6 65,077,762(+) A/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KBTBD13 Gene

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)

Additional Variant Information for KBTBD13 Gene

Human Gene Mutation Database (HGMD)
KBTBD13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD13

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

Disorders for KBTBD13 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
nemaline myopathy 6
  • nem6
childhood-onset nemaline myopathy
  • mild nemaline myopathy
myopathy
  • muscular diseases
nemaline myopathy 7
  • nem7
nemaline myopathy 9
  • nem9
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KBTBD_HUMAN
  • 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.
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
  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
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 4
  4. 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
  5. Sequence and structural analysis of BTB domain proteins. (PMID: 16207353) Stogios PJ … Privé GG (Genome biology 2005) 3

Products for KBTBD13 Gene

  • Biorbyt antibodies for KBTBD13
  • Signalway Proteins for KBTBD13

Sources for KBTBD13 Gene