Aliases for KBTBD3 Gene

Aliases for KBTBD3 Gene

  • Kelch Repeat And BTB Domain Containing 3 2 3 5
  • Kelch Repeat And BTB Domain-Containing Protein 3 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 3 2 3
  • BTB And Kelch Domain-Containing Protein 3 3 4
  • BTB And Kelch Domain Containing 3 2 3
  • BKLHD3 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • KBTBD3 5

External Ids for KBTBD3 Gene

Previous HGNC Symbols for KBTBD3 Gene

  • BKLHD3

Previous GeneCards Identifiers for KBTBD3 Gene

  • GC11M105460
  • GC11M105459
  • GC11M105427
  • GC11M105921
  • GC11M101852

Summaries for KBTBD3 Gene

GeneCards Summary for KBTBD3 Gene

KBTBD3 (Kelch Repeat And BTB Domain Containing 3) is a Protein Coding gene. Diseases associated with KBTBD3 include Schizotypal Personality Disorder. An important paralog of this gene is KLHL2.

Additional gene information for KBTBD3 Gene

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 KBTBD3 Gene

Genomics for KBTBD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KBTBD3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J106076 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.4 +0.1 64 4.2 SP1 HNRNPL CREB1 CTCF ATF7 PRDM10 REST ZNF629 TFE3 KDM1A MSANTD4 KBTBD3 AASDHPPT lnc-MSANTD4-2 LINC02719
GH11J106021 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 +56.6 56595 4.3 SP1 HNRNPL CREB1 TEAD4 PRDM10 ZNF512 IKZF1 ZNF692 BACH1 FOS MSANTD4 HSALNG0086902 AASDHPPT KBTBD3 ENSG00000254433 lnc-MSANTD4-1 GRIA4
GH11J106238 Enhancer 0.5 ENCODE 5.3 -161.3 -161310 1.2 PKNOX1 ZNF316 MAFF MAFK MAFG EMSY ENSG00000255065 KBTBD3 LOC101928535 lnc-KBTBD3-3 GUCY1A2
GH11J105708 Enhancer 0.2 FANTOM5 5.3 +369.3 369267 0.1 HSPD1P13 GRIA4 KBTBD3 MSANTD4 lnc-AASDHPPT-4
GH11J105803 Enhancer 0.2 FANTOM5 3.2 +273.7 273714 0.4 GRIA4 KBTBD3 MSANTD4 AASDHPPT RF00015-013 RNU4-55P lnc-AASDHPPT-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KBTBD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KBTBD3

Top Transcription factor binding sites by QIAGEN in the KBTBD3 gene promoter:
  • AhR
  • Arnt
  • E47
  • HSF2
  • Ik-2
  • IRF-7A
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for KBTBD3 Gene

Genomic Locations for KBTBD3 Gene
30,965 bases
Minus strand
26,668 bases
Minus strand

Genomic View for KBTBD3 Gene

Genes around KBTBD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD3 Gene

Proteins for KBTBD3 Gene

  • Protein details for KBTBD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch repeat and BTB domain-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • Q6N066
    • Q86X38
    • Q96NK5

    Protein attributes for KBTBD3 Gene

    612 amino acids
    Molecular mass:
    69839 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC04012.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for KBTBD3 Gene

Post-translational modifications for KBTBD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KBTBD3 Gene

Domains & Families for KBTBD3 Gene

Gene Families for KBTBD3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KBTBD3 Gene

  • BTB/POZ domain
  • BTB/Kelch-associated

Suggested Antigen Peptide Sequences for KBTBD3 Gene

GenScript: Design optimal peptide antigens:
  • BTB and kelch domain-containing protein 3 (KBTB3_HUMAN)
  • KBTBD3 protein (Q3B7C0_HUMAN)
genes like me logo Genes that share domains with KBTBD3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KBTBD3 Gene

Function for KBTBD3 Gene

Phenotypes From GWAS Catalog for KBTBD3 Gene

Gene Ontology (GO) - Molecular Function for KBTBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KBTBD3: view
genes like me logo Genes that share phenotypes with KBTBD3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KBTBD3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD3 Gene

Localization for KBTBD3 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 KBTBD3 gene
Compartment Confidence
cytosol 2
mitochondrion 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for KBTBD3 Gene

Pathways & Interactions for KBTBD3 Gene

PathCards logo

SuperPathways for KBTBD3 Gene

No Data Available

Interacting Proteins for KBTBD3 Gene

Gene Ontology (GO) - Biological Process for KBTBD3 Gene


No data available for Pathways by source and SIGNOR curated interactions for KBTBD3 Gene

Drugs & Compounds for KBTBD3 Gene

No Compound Related Data Available

Transcripts for KBTBD3 Gene

mRNA/cDNA for KBTBD3 Gene

12 NCBI additional mRNA sequence :
7 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 KBTBD3

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2: - - -

Relevant External Links for KBTBD3 Gene

GeneLoc Exon Structure for

Expression for KBTBD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KBTBD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KBTBD3 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KBTBD3 Gene

Protein tissue co-expression partners for KBTBD3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KBTBD3

SOURCE GeneReport for Unigene cluster for KBTBD3 Gene:

genes like me logo Genes that share expression patterns with KBTBD3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KBTBD3 Gene

Orthologs for KBTBD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KBTBD3 30 31
  • 99.78 (n)
(Bos Taurus)
Mammalia KBTBD3 30 31
  • 93.94 (n)
(Canis familiaris)
Mammalia KBTBD3 30 31
  • 90.03 (n)
(Rattus norvegicus)
Mammalia Kbtbd3 30
  • 88.15 (n)
(Monodelphis domestica)
Mammalia KBTBD3 31
  • 88 (a)
(Mus musculus)
Mammalia Kbtbd3 30 17 31
  • 87.93 (n)
(Ornithorhynchus anatinus)
Mammalia KBTBD3 31
  • 71 (a)
(Gallus gallus)
Aves KBTBD3 30 31
  • 78.64 (n)
(Anolis carolinensis)
Reptilia KBTBD3 31
  • 78 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kbtbd3 30
  • 72.85 (n)
(Danio rerio)
Actinopterygii kbtbd3 30 31
  • 57.12 (n)
Species where no ortholog for KBTBD3 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)
  • 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 KBTBD3 Gene

Gene Tree for KBTBD3 (if available)
Gene Tree for KBTBD3 (if available)
Evolutionary constrained regions (ECRs) for KBTBD3: view image

Paralogs for KBTBD3 Gene

(35) SIMAP similar genes for KBTBD3 Gene using alignment to 5 proteins:

  • G3V161_HUMAN
  • Q3B7C0_HUMAN
genes like me logo Genes that share paralogs with KBTBD3: view

Variants for KBTBD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KBTBD3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs35762821 - p.Met193Val

Additional dbSNP identifiers (rs#s) for KBTBD3 Gene

Structural Variations from Database of Genomic Variants (DGV) for KBTBD3 Gene

Variant ID Type Subtype PubMed ID
nsv1052674 CNV loss 25217958

Variation tolerance for KBTBD3 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KBTBD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD3 Gene

Disorders for KBTBD3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KBTBD3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
schizotypal personality disorder
  • schizotypal personality
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with KBTBD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KBTBD3 Gene

Publications for KBTBD3 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. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Investigation of low-dose ritonavir on human peripheral blood mononuclear cells using gene expression whole genome microarrays. (PMID: 20353815) Yilmaz S … McGregor JL (Genomics 2010) 3

Products for KBTBD3 Gene

Sources for KBTBD3 Gene