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Aliases for KBTBD4 Gene

Aliases for KBTBD4 Gene

  • Kelch Repeat And BTB Domain Containing 4 2 3
  • Kelch Repeat And BTB (POZ) Domain Containing 4 2 3 5
  • BTB And Kelch Domain-Containing Protein 4 3 4
  • BTB And Kelch Domain Containing 4 2 3
  • BKLHD4 3 4
  • HSPC252 3

External Ids for KBTBD4 Gene

Previous HGNC Symbols for KBTBD4 Gene

  • BKLHD4

Previous GeneCards Identifiers for KBTBD4 Gene

  • GC11M047558
  • GC11M047550
  • GC11M047597
  • GC11M047294
  • GC11M047707
  • GC11M048079
  • GC11M048802
  • GC11M049907
  • GC11M047828
  • GC11M047955

Summaries for KBTBD4 Gene

GeneCards Summary for KBTBD4 Gene

KBTBD4 (Kelch Repeat And BTB Domain Containing 4) is a Protein Coding gene. An important paralog of this gene is KBTBD3.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KBTBD4 Gene

Genomics for KBTBD4 Gene

Regulatory Elements for KBTBD4 Gene

Promoters for KBTBD4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KBTBD4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KBTBD4 Gene

47,572,197 bp from pter
47,579,015 bp from pter
6,819 bases
Minus strand

Genomic View for KBTBD4 Gene

Genes around KBTBD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD4 Gene

Proteins for KBTBD4 Gene

  • Protein details for KBTBD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch repeat and BTB domain-containing protein 4
    Protein Accession:
    Secondary Accessions:
    • D3DQS1
    • D3DQS2
    • Q6IA85
    • Q9BUC3
    • Q9NV76

    Protein attributes for KBTBD4 Gene

    518 amino acids
    Molecular mass:
    58144 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KBTBD4 Gene

    Alternative splice isoforms for KBTBD4 Gene


neXtProt entry for KBTBD4 Gene

Proteomics data for KBTBD4 Gene at MOPED

Post-translational modifications for KBTBD4 Gene

  • Ubiquitination at Lys 232
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for KBTBD4

No data available for DME Specific Peptides for KBTBD4 Gene

Domains & Families for KBTBD4 Gene

Gene Families for KBTBD4 Gene

Protein Domains for KBTBD4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 5 Kelch repeats.
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with KBTBD4: view

Function for KBTBD4 Gene

genes like me logo Genes that share phenotypes with KBTBD4: view

Animal Model Products

miRNA for KBTBD4 Gene

miRTarBase miRNAs that target KBTBD4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD4 Gene

Localization for KBTBD4 Gene

Subcellular locations from

Jensen Localization Image for KBTBD4 Gene COMPARTMENTS Subcellular localization image for KBTBD4 gene
Compartment Confidence
cytosol 3
nucleus 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KBTBD4 Gene

Pathways & Interactions for KBTBD4 Gene

SuperPathways for KBTBD4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KBTBD4 Gene


No data available for Pathways by source and SIGNOR curated interactions for KBTBD4 Gene

Drugs & Compounds for KBTBD4 Gene

No Compound Related Data Available

Transcripts for KBTBD4 Gene

Unigene Clusters for KBTBD4 Gene

Kelch repeat and BTB (POZ) domain containing 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD4 Gene

No ASD Table

Relevant External Links for KBTBD4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KBTBD4 Gene

mRNA expression in normal human tissues for KBTBD4 Gene

Protein differential expression in normal tissues from HIPED for KBTBD4 Gene

This gene is overexpressed in Plasma (50.5) and Fetal ovary (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KBTBD4 Gene

SOURCE GeneReport for Unigene cluster for KBTBD4 Gene Hs.718483

genes like me logo Genes that share expression patterns with KBTBD4: view

Protein tissue co-expression partners for KBTBD4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KBTBD4 Gene

Orthologs for KBTBD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KBTBD4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia KBTBD4 35
  • 93.07 (n)
  • 98.5 (a)
  • 98 (a)
(Canis familiaris)
Mammalia KBTBD4 35
  • 94.07 (n)
  • 98.88 (a)
  • 99 (a)
(Mus musculus)
Mammalia Kbtbd4 35
  • 91.76 (n)
  • 99.42 (a)
Kbtbd4 16
Kbtbd4 36
  • 99 (a)
(Pan troglodytes)
Mammalia KBTBD4 35
  • 99.81 (n)
  • 99.63 (a)
  • 100 (a)
(Monodelphis domestica)
Mammalia KBTBD4 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia KBTBD4 36
  • 91 (a)
(Gallus gallus)
Aves KBTBD4 35
  • 78.76 (n)
  • 90.35 (a)
  • 90 (a)
(Anolis carolinensis)
Reptilia KBTBD4 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd4 35
  • 73.62 (n)
  • 82.24 (a)
MGC76129 35
(Danio rerio)
Actinopterygii kbtbd4 35
  • 70.66 (n)
  • 76.45 (a)
zgc56204 35
kbtbd4 36
  • 76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7058 36
  • 5 (a)
(Caenorhabditis elegans)
Secernentea bath-40 36
  • 11 (a)
bath-41 36
  • 9 (a)
bath-42 36
  • 14 (a)
Species with no ortholog for KBTBD4:
  • 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)
  • 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)

Evolution for KBTBD4 Gene

Gene Tree for KBTBD4 (if available)
Gene Tree for KBTBD4 (if available)

Paralogs for KBTBD4 Gene

genes like me logo Genes that share paralogs with KBTBD4: view

Variants for KBTBD4 Gene

Sequence variations from dbSNP and Humsavar for KBTBD4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_028046 -
rs6485760 -- 47,576,049(+) ggtct(C/G)actgt intron-variant
rs7105784 -- 47,576,393(+) tgccc(A/G)cctcg intron-variant
rs7105845 -- 47,576,637(+) CCCAT(C/G)TGCCA intron-variant
rs9666433 -- 47,575,237(+) ggcgc(C/G)ggggc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KBTBD4 Gene

Variant ID Type Subtype PubMed ID
nsv897325 CNV Loss 21882294
nsv832142 CNV Loss 17160897
nsv314 CNV Loss 18451855
nsv825872 CNV Gain 20364138
nsv509405 CNV Insertion 20534489

Variation tolerance for KBTBD4 Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KBTBD4 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD4 Gene

Disorders for KBTBD4 Gene

Relevant External Links for KBTBD4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for KBTBD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KBTBD4 Gene

Publications for KBTBD4 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PMID: 22939624) Taipale M. … Lindquist S. (Cell 2012) 3
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3

Products for KBTBD4 Gene

Sources for KBTBD4 Gene

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