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Aliases for KBTBD4 Gene

Aliases for KBTBD4 Gene

  • Kelch Repeat And BTB Domain Containing 4 2 3 5
  • Kelch Repeat And BTB (POZ) Domain Containing 4 2 3
  • BTB And Kelch Domain-Containing Protein 4 3 4
  • BTB And Kelch Domain Containing 4 2 3
  • BKLHD4 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 4 3
  • 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
  • GC11M050803
  • GC11M051598
  • GC11M052260
  • GC11M052920

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 KLHL41.

Additional gene information for KBTBD4 Gene

No data available for Entrez Gene Summary , CIViC 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

Enhancers for KBTBD4 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
GH11H047912 2 FANTOM5 Ensembl ENCODE dbSUPER 17.9 -339.8 -339818 13 PKNOX1 FOXA2 SIN3A FEZF1 ZNF766 ZNF143 FOS DEK NFYC REST NUP160 FNBP4 ENSG00000270060 ENSG00000200090 DDB2 ARFGAP2 KBTBD4 PTPRJ C1QTNF4 MADD
GH11H046699 1.4 ENCODE dbSUPER 20 +878.1 878144 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 AMBRA1 KBTBD4 ZNF408 SNORD67 LOC105376662 LOC101928894 ENSG00000255447 ARHGAP1 C1QTNF4 ENSG00000270060
GH11H047506 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +65.4 65434 14 HDGF PKNOX1 ZFP64 FOS ZC3H11A JUNB REST SREBF1 SMARCA4 GLIS1 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 C1QTNF4 DDB2 ZNF408 SLC39A13 AMBRA1 CELF1
GH11H047550 1.7 FANTOM5 ENCODE dbSUPER 11.7 +26.8 26829 3 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 NUP160 C1QTNF4 RNU5E-10P ENSG00000231880 AMBRA1 KBTBD4 FNBP4 CELF1 PTPRJ NR1H3
GH11H047764 1.8 FANTOM5 ENCODE dbSUPER 10.1 -188.1 -188123 4 HDGF PKNOX1 ARNT SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ZNF143 NUP160 FNBP4 ENSG00000270060 ENSG00000200090 DDB2 C1QTNF4 ARFGAP2 KBTBD4 PSMC3 PTPRJ
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KBTBD4 on UCSC Golden Path with GeneCards custom track

Promoters for KBTBD4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039707 -185 1601 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A

Genomic Location for KBTBD4 Gene

Chromosome:
11
Start:
47,572,197 bp from pter
End:
47,579,015 bp from pter
Size:
6,819 bases
Orientation:
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:
    Q9NVX7-KBTB4_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 4
    Protein Accession:
    Q9NVX7
    Secondary Accessions:
    • D3DQS1
    • D3DQS2
    • Q6IA85
    • Q9BUC3
    • Q9NV76

    Protein attributes for KBTBD4 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for KBTBD4 Gene

Post-translational modifications for KBTBD4 Gene

  • Ubiquitination at posLast=232232
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KBTBD4 Gene

Domains & Families for KBTBD4 Gene

Gene Families for KBTBD4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for KBTBD4 Gene

Function for KBTBD4 Gene

Phenotypes From GWAS Catalog for KBTBD4 Gene

Gene Ontology (GO) - Molecular Function for KBTBD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031625 ubiquitin protein ligase binding IBA --
genes like me logo Genes that share ontologies with KBTBD4: view
genes like me logo Genes that share phenotypes with KBTBD4: view

Animal Model Products

CRISPR Products

miRNA for KBTBD4 Gene

miRTarBase miRNAs that target KBTBD4

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KBTBD4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for KBTBD4 Gene

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 KBTBD4 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KBTBD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0019005 SCF ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KBTBD4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KBTBD4 Gene

Pathways & Interactions for KBTBD4 Gene

SuperPathways for KBTBD4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KBTBD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030162 regulation of proteolysis IBA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with KBTBD4: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KBTBD4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for KBTBD4 Gene

GeneLoc Exon Structure for
KBTBD4
ECgene alternative splicing isoforms for
KBTBD4

Expression for KBTBD4 Gene

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



Protein tissue co-expression partners for KBTBD4 Gene

NURSA nuclear receptor signaling pathways regulating expression of KBTBD4 Gene:

KBTBD4

SOURCE GeneReport for Unigene cluster for KBTBD4 Gene:

Hs.718483

Evidence on tissue expression from TISSUES for KBTBD4 Gene

  • Nervous system(4.8)
  • Lymph node(4.2)
genes like me logo Genes that share expression patterns with KBTBD4: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia KBTBD4 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia KBTBD4 33 34
  • 94.07 (n)
cow
(Bos Taurus)
Mammalia KBTBD4 33 34
  • 93.07 (n)
mouse
(Mus musculus)
Mammalia Kbtbd4 33 16 34
  • 91.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD4 34
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KBTBD4 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD4 33 34
  • 78.76 (n)
lizard
(Anolis carolinensis)
Reptilia KBTBD4 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd4 33
  • 73.62 (n)
MGC76129 33
zebrafish
(Danio rerio)
Actinopterygii kbtbd4 33 34
  • 70.66 (n)
zgc56204 33
fruit fly
(Drosophila melanogaster)
Insecta CG7058 34
  • 5 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bath-42 34
  • 14 (a)
OneToMany
bath-40 34
  • 11 (a)
OneToMany
bath-41 34
  • 9 (a)
OneToMany
Species where no ortholog for KBTBD4 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)
  • 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

ENSEMBL:
Gene Tree for KBTBD4 (if available)
TreeFam:
Gene Tree for KBTBD4 (if available)

Paralogs for KBTBD4 Gene

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
rs863224106 Pathogenic 47,579,093(+) TAACA(G/T)GGCGG upstream-variant-2KB, reference, missense
rs368907187 Uncertain significance 47,579,280(+) GGCGA(C/T)CCTCC upstream-variant-2KB, reference, missense
rs375483884 Uncertain significance 47,579,062(+) CTTTC(C/T)GTCCG upstream-variant-2KB, utr-variant-5-prime
rs377579231 Uncertain significance 47,580,990(+) GTCAG(C/T)TGGGA intron-variant, upstream-variant-2KB
rs750965789 Uncertain significance 47,579,051(+) TGTCC(C/G/T)GCTGT upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv314 CNV deletion 18451855
nsv509405 CNV insertion 20534489
nsv825872 CNV gain 20364138
nsv832142 CNV loss 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD4

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:
KBTBD4

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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. 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 QH … Chen Z (Genome research 2000) 2 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Reversible oxidation of phosphatase and tensin homolog (PTEN) alters its interactions with signaling and regulatory proteins. (PMID: 26561776) Verrastro I … Pitt AR (Free radical biology & medicine 2016) 3 60

Products for KBTBD4 Gene

Sources for KBTBD4 Gene

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