Aliases for KBTBD4 Gene

Aliases for KBTBD4 Gene

  • Kelch Repeat And BTB Domain Containing 4 2 3 5
  • Kelch Repeat And BTB Domain-Containing Protein 4 3 4
  • 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
  • HSPC252 2 3
  • BKLHD4 3 4
  • FLJ10450 2
  • KBTBD4 5

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
  • GC11M055818
  • GC11M056044
  • GC11M056187
  • GC11M059708
  • GC11M050803
  • GC11M051598
  • GC11M052260
  • GC11M052920
  • GC11M053588
  • GC11M054254
  • GC11M054920
  • GC11M055620
  • GC11M061129

Summaries for KBTBD4 Gene

GeneCards Summary for KBTBD4 Gene

KBTBD4 (Kelch Repeat And BTB Domain Containing 4) is a Protein Coding gene. Diseases associated with KBTBD4 include Pineal Parenchymal Tumor Of Intermediate Differentiation and Adult Medulloblastoma. An important paralog of this gene is ABTB2.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KBTBD4 Gene

Genomics for KBTBD4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KBTBD4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KBTBD4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KBTBD4

Top Transcription factor binding sites by QIAGEN in the KBTBD4 gene promoter:
  • aMEF-2
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • MEF-2A

Genomic Locations for KBTBD4 Gene

Latest Assembly
6,780 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
6,774 bases
Minus strand

(GRCh37/hg19 by Ensembl)
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

Post-translational modifications for KBTBD4 Gene

  • Ubiquitination at Lys232
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KBTBD4 Gene

Domains & Families for KBTBD4 Gene

Gene Families for KBTBD4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KBTBD4 Gene

  • Kelch
  • BTB/POZ domain
  • BTB/Kelch-associated

Suggested Antigen Peptide Sequences for KBTBD4 Gene

GenScript: Design optimal peptide antigens:
  • BTB and kelch domain-containing protein 4 (KBTB4_HUMAN)
  • Kelch repeat and BTB (POZ) domain containing 4 variant (Q53HN0_HUMAN)
  • KBTBD4 protein (Q8TB35_HUMAN)
  • HSPC252 (Q9P0M7_HUMAN)
genes like me logo Genes that share domains with KBTBD4: view

No data available for Graphical View of Domain Structure and 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:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KBTBD4: view
genes like me logo Genes that share phenotypes with KBTBD4: view

miRNA for KBTBD4 Gene

miRTarBase miRNAs that target KBTBD4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KBTBD4

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

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 3
cytosol 3

Subcellular locations from the

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

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

Pathways & Interactions for KBTBD4 Gene

PathCards logo

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

mRNA/cDNA for KBTBD4 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KBTBD4

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

No ASD Table

Relevant External Links for KBTBD4 Gene

GeneLoc Exon Structure for

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 and MOPED for KBTBD4 Gene

Protein tissue co-expression partners for KBTBD4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KBTBD4

SOURCE GeneReport for Unigene cluster for KBTBD4 Gene:


Evidence on tissue expression from TISSUES for KBTBD4 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with KBTBD4: view

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
(Pan troglodytes)
Mammalia KBTBD4 30 31
  • 99.81 (n)
(Canis familiaris)
Mammalia KBTBD4 30 31
  • 94.07 (n)
(Bos Taurus)
Mammalia KBTBD4 30 31
  • 93.07 (n)
(Mus musculus)
Mammalia Kbtbd4 30 17 31
  • 91.76 (n)
(Ornithorhynchus anatinus)
Mammalia KBTBD4 31
  • 91 (a)
(Monodelphis domestica)
Mammalia KBTBD4 31
  • 89 (a)
(Gallus gallus)
Aves KBTBD4 30 31
  • 78.76 (n)
(Anolis carolinensis)
Reptilia KBTBD4 31
  • 85 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kbtbd4 30
  • 73.62 (n)
MGC76129 30
(Danio rerio)
Actinopterygii kbtbd4 30 31
  • 70.66 (n)
zgc56204 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7058 31
  • 5 (a)
(Caenorhabditis elegans)
Secernentea bath-42 31
  • 14 (a)
bath-40 31
  • 11 (a)
bath-41 31
  • 9 (a)
Species where no ortholog for KBTBD4 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)
  • 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)

Evolution for KBTBD4 Gene

Gene Tree for KBTBD4 (if available)
Gene Tree for KBTBD4 (if available)
Evolutionary constrained regions (ECRs) for KBTBD4: view image

Paralogs for KBTBD4 Gene

Paralogs for KBTBD4 Gene

(12) SIMAP similar genes for KBTBD4 Gene using alignment to 10 proteins:

  • E9PJ66_HUMAN
  • E9PL18_HUMAN
  • E9PM58_HUMAN
  • E9PQ38_HUMAN
  • Q53HN0_HUMAN
  • Q8TB35_HUMAN
  • Q9P0M7_HUMAN
genes like me logo Genes that share paralogs with KBTBD4: view

Variants for KBTBD4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KBTBD4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs4450136 Benign: not provided 47,578,800(-) A/G
rs11039302 - p.Asp330Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KBTBD4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KBTBD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

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

Disorders for KBTBD4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KBTBD4 Gene - From: COP

Disorder Aliases PubMed IDs
pineal parenchymal tumor of intermediate differentiation
  • pineal parenchymal tumour of intermediate differentiation
adult medulloblastoma
  • adult brain medulloblastoma
pineal gland cancer
  • malignant pineal region tumor
  • pineal pnet
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KBTBD4

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

No data available for 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
  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
  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
  4. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. (PMID: 31391242) Nowak M … Sommer T (Journal of cell science 2019) 3
  5. Lack of KBTBD4 Mutations in Molecularly Classified Brazilian Medulloblastomas. (PMID: 31403685) Leal LF … Reis RM (Journal of neuropathology and experimental neurology 2019) 3

Products for KBTBD4 Gene

Sources for KBTBD4 Gene