The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016] See more...

Aliases for KBTBD7 Gene

Aliases for KBTBD7 Gene

  • Kelch Repeat And BTB Domain Containing 7 2 3 5
  • Kelch Repeat And BTB Domain-Containing Protein 7 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 7 2 3
  • DKFZP434E2318 2
  • KBTBD7 5

External Ids for KBTBD7 Gene

Previous GeneCards Identifiers for KBTBD7 Gene

  • GC13M039563
  • GC13M040663
  • GC13M041765
  • GC13M022565

Summaries for KBTBD7 Gene

Entrez Gene Summary for KBTBD7 Gene

  • The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]

GeneCards Summary for KBTBD7 Gene

KBTBD7 (Kelch Repeat And BTB Domain Containing 7) is a Protein Coding gene. Diseases associated with KBTBD7 include Cortical Dysplasia, Complex, With Other Brain Malformations 1. Among its related pathways are RET signaling and Signaling by GPCR. An important paralog of this gene is KBTBD6.

Gene Wiki entry for KBTBD7 Gene

Additional gene information for KBTBD7 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KBTBD7 Gene

Genomics for KBTBD7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KBTBD7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J041193 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 600.7 +0.9 868 3.4 BRCA1 SP1 HNRNPL GATAD2A PRDM10 REST ZNF629 SIX5 LEF1 IKZF1 KBTBD7 NAA16 MRPS31 SNODB613 ENSG00000278390 KBTBD6 LOC101929140
GH13J041128 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 5.9 +63.2 63168 5.6 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A REST ZNF629 TFE3 SIX5 ENSG00000278390 LOC101929140 KBTBD6 lnc-KBTBD6-2 NAA16 LINC00548 KBTBD7 piR-43105-139 lnc-KBTBD6-1 WBP4
GH13J041178 Enhancer 0.8 Ensembl ENCODE 5.9 +15.8 15768 4.8 RFX1 FOXJ2 CEBPA SOX13 RFX3 NFE2 ZNF316 FOXA2 MAFF MAFK SNODB613 NAA16 MRPS31 MTRF1 KBTBD7 RLIMP1 piR-50968-035 ENSG00000278390 KBTBD6 LOC101929140
GH13J041262 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 -68.8 -68848 2 CREB1 ZNF629 SIX5 POLR2A GABPA PRDM1 ZNF143 RBFOX2 PKNOX1 PATZ1 MTRF1 lnc-MTRF1-2 piR-50437-139 NAA16 KBTBD7
GH13J041251 Enhancer 0.2 FANTOM5 1.8 -57.0 -56956 0.1 KBTBD7 NAA16 piR-50437-139 lnc-MTRF1-2 piR-32214-144 MTRF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KBTBD7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KBTBD7

Top Transcription factor binding sites by QIAGEN in the KBTBD7 gene promoter:
  • AhR
  • Cart-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • LCR-F1
  • Tal-1beta

Genomic Locations for KBTBD7 Gene

Genomic Locations for KBTBD7 Gene
chr13:41,189,834-41,194,569
(GRCh38/hg38)
Size:
4,736 bases
Orientation:
Minus strand
chr13:41,763,969-41,768,702
(GRCh37/hg19)
Size:
4,734 bases
Orientation:
Minus strand

Genomic View for KBTBD7 Gene

Genes around KBTBD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD7 Gene

Proteins for KBTBD7 Gene

  • Protein details for KBTBD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVZ9-KBTB7_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 7
    Protein Accession:
    Q8WVZ9
    Secondary Accessions:
    • B5TZ86
    • Q5T6Y7
    • Q8NB99
    • Q9H0I6

    Protein attributes for KBTBD7 Gene

    Size:
    684 amino acids
    Molecular mass:
    77163 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KBTBD7 Gene

Post-translational modifications for KBTBD7 Gene

  • Ubiquitination at Lys187, Lys201, Lys403, Lys452, Lys511, and Lys535
  • Modification sites at PhosphoSitePlus

Other Protein References for KBTBD7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KBTBD7 Gene

Domains & Families for KBTBD7 Gene

Gene Families for KBTBD7 Gene

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

Protein Domains for KBTBD7 Gene

InterPro:
Blocks:
  • BTB/POZ domain
  • BTB/Kelch-associated
ProtoNet:

Suggested Antigen Peptide Sequences for KBTBD7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51290, highly similar to Kelch repeat and BTB domain-containing protein 7 (B4DS80_HUMAN)
  • Kelch repeat and BTB domain-containing protein 7 (KBTB7_HUMAN)
  • KBTBD7 protein (Q6FI68_HUMAN)
genes like me logo Genes that share domains with KBTBD7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KBTBD7 Gene

Function for KBTBD7 Gene

Phenotypes From GWAS Catalog for KBTBD7 Gene

Gene Ontology (GO) - Molecular Function for KBTBD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16169070
genes like me logo Genes that share ontologies with KBTBD7: view
genes like me logo Genes that share phenotypes with KBTBD7: view

Animal Models for KBTBD7 Gene

MGI Knock Outs for KBTBD7:
  • Kbtbd7 Kbtbd7<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KBTBD7

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KBTBD7 Gene

Localization for KBTBD7 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 KBTBD7 gene
Compartment Confidence
cytosol 4
nucleus 3
mitochondrion 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for KBTBD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KBTBD7: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KBTBD7 Gene

Pathways & Interactions for KBTBD7 Gene

PathCards logo

SuperPathways for KBTBD7 Gene

SuperPathway Contained pathways
1 RET signaling
2 Class I MHC mediated antigen processing and presentation
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Innate Immune System
genes like me logo Genes that share pathways with KBTBD7: view

Gene Ontology (GO) - Biological Process for KBTBD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0008150 biological_process ND --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with KBTBD7: view

No data available for SIGNOR curated interactions for KBTBD7 Gene

Drugs & Compounds for KBTBD7 Gene

No Compound Related Data Available

Transcripts for KBTBD7 Gene

mRNA/cDNA for KBTBD7 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
1 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 KBTBD7

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD7 Gene

No ASD Table

Relevant External Links for KBTBD7 Gene

GeneLoc Exon Structure for
KBTBD7

Expression for KBTBD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KBTBD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KBTBD7 Gene

This gene is overexpressed in Pancreas (44.4) and Retina (24.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KBTBD7 Gene



Protein tissue co-expression partners for KBTBD7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KBTBD7

SOURCE GeneReport for Unigene cluster for KBTBD7 Gene:

Hs.63841

Evidence on tissue expression from TISSUES for KBTBD7 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with KBTBD7: 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 KBTBD7 Gene

Orthologs for KBTBD7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KBTBD7 30 31
  • 99.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 31
  • 96 (a)
ManyToMany
KBTBD7 30
  • 90.39 (n)
Dog
(Canis familiaris)
Mammalia -- 31
  • 95 (a)
ManyToMany
KBTBD7 30
  • 89.05 (n)
Mouse
(Mus musculus)
Mammalia Kbtbd7 30 17 31
  • 88.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 78 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kbtbd7 30
  • 67.17 (n)
Str.2171 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15710 30
Zebrafish
(Danio rerio)
Actinopterygii kbtbd7 30 31
  • 58.38 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
OneToMany
Species where no ortholog for KBTBD7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 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 KBTBD7 Gene

ENSEMBL:
Gene Tree for KBTBD7 (if available)
TreeFam:
Gene Tree for KBTBD7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KBTBD7: view image

Paralogs for KBTBD7 Gene

Variants for KBTBD7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KBTBD7 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
691363 Uncertain Significance: Pyloric stenosis; Esophageal atresia 41,193,827(-) A/T MISSENSE_VARIANT
rs748092018 Likely Benign: Oromandibular-limb hypogenesis spectrum 41,193,050(-) T/G MISSENSE_VARIANT
rs754048481 Likely Benign: Oromandibular-limb hypogenesis spectrum 41,192,762(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KBTBD7 Gene

Structural Variations from Database of Genomic Variants (DGV) for KBTBD7 Gene

Variant ID Type Subtype PubMed ID
esv2747299 CNV deletion 23290073
esv3431510 CNV duplication 20981092
nsv832587 CNV gain 17160897

Variation tolerance for KBTBD7 Gene

Residual Variation Intolerance Score: 9.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KBTBD7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD7 Gene

Disorders for KBTBD7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KBTBD7 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KBTBD7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KBTBD7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KBTBD7 Gene

Publications for KBTBD7 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Dimerization quality control ensures neuronal development and survival. (PMID: 30190310) Mena EL … Rape M (Science (New York, N.Y.) 2018) 3

Products for KBTBD7 Gene

Sources for KBTBD7 Gene