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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

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 SPOPL.

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

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
GH11F047498 1.2 Ensembl ENCODE 22.1 +79.8 79815 2.4 ZNF493 WRNIP1 ZFP64 RAD21 ZNF155 YY1 ZEB1 ZNF354C ZNF138 KLF7 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 DDB2 ZNF408 SLC39A13 KBTBD4 NDUFS3 PTPMT1
GH11F047506 1.7 FANTOM5 Ensembl ENCODE 11.4 +65.5 65515 14.6 HDGF PKNOX1 WRNIP1 ZFP64 ZNF493 SIN3A FEZF1 ZNF2 ZNF121 GATA2 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 C1QTNF4 DDB2 ZNF408 CELF1 SLC39A13 NDUFS3
GH11F047912 1.8 FANTOM5 Ensembl ENCODE 9.9 -339.8 -339818 13.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 YY1 CBX5 ZNF143 NUP160 FNBP4 ENSG00000270060 ENSG00000200090 DDB2 PTPRJ C1QTNF4 PTPRJ-AS1 MYBPC3 KBTBD4
GH11F047985 1.8 FANTOM5 Ensembl ENCODE 9.9 -425.6 -425586 37.6 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 FOS SP5 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 DDB2 PTPRJ SLC39A13 MADD ENSG00000256897 KBTBD4
GH11F047550 1.5 FANTOM5 ENCODE 11.7 +26.8 26829 3.8 HDGF PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 C1QTNF4 C11orf49 RNU5E-10P ENSG00000231880 KBTBD4 NUP160 FNBP4 CELF1 PTPRJ NR1H3
- 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
ENSR00000109060 -185 2001 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC

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 Lys 232
  • Modification sites at PhosphoSitePlus

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

Q9NVX7

UniProtKB/Swiss-Prot:

KBTB4_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 5 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with KBTBD4: view

Function 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

miRNA for KBTBD4 Gene

miRTarBase miRNAs that target KBTBD4

Inhibitory RNA Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for KBTBD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Transcripts for KBTBD4 Gene

Unigene Clusters for KBTBD4 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

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
chimpanzee
(Pan troglodytes)
Mammalia KBTBD4 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia KBTBD4 34 35
  • 94.07 (n)
cow
(Bos Taurus)
Mammalia KBTBD4 34 35
  • 93.07 (n)
mouse
(Mus musculus)
Mammalia Kbtbd4 34 16 35
  • 91.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD4 35
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KBTBD4 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD4 34 35
  • 78.76 (n)
lizard
(Anolis carolinensis)
Reptilia KBTBD4 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd4 34
  • 73.62 (n)
MGC76129 34
zebrafish
(Danio rerio)
Actinopterygii kbtbd4 34 35
  • 70.66 (n)
zgc56204 34
fruit fly
(Drosophila melanogaster)
Insecta CG7058 35
  • 5 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bath-42 35
  • 14 (a)
OneToMany
bath-40 35
  • 11 (a)
OneToMany
bath-41 35
  • 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 Likely benign 47,579,280(+) GGCGA(C/T)CCTCC upstream-variant-2KB, reference, missense
rs141187412 Benign 47,579,324(+) GGGGC(C/T)GACAC upstream-variant-2KB, reference, synonymous-codon
rs11039302 -- 47,573,499(+) GGCAT(A/C/T)TTTCC downstream-variant-500B, reference, missense
rs11039304 -- 47,576,187(+) tttga(A/G)atgga intron-variant

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. (Nat. Genet. 2004) 3 4 64
  2. 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 64
  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 Q.-H. … Chen Z. (Genome Res. 2000) 2 3 64
  4. Reversible oxidation of phosphatase and tensin homolog (PTEN) alters its interactions with signaling and regulatory proteins. (PMID: 26561776) Verrastro I. … Pitt A.R. (Free Radic. Biol. Med. 2016) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for KBTBD4 Gene

Sources for KBTBD4 Gene

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