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Aliases for KBTBD7 Gene

Aliases for KBTBD7 Gene

  • Kelch Repeat And BTB Domain Containing 7 2 3 5
  • Kelch Repeat And BTB (POZ) Domain Containing 7 2

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. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KBTBD7 Gene

Genomics for KBTBD7 Gene

GeneHancer (GH) Regulatory Elements for KBTBD7 Gene

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
GH13I041193 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 170 1.6 HDGF FOXA2 SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B KBTBD7 NAA16 MRPS31 CALM2P3 LOC101929140
GH13I041131 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.8 +61.6 61606 2.4 HDGF ARNT ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 ZNF766 CBX5 KBTBD6 LOC101929140 NAA16 LINC00548 KBTBD7 GC13P041139
GH13I041251 Enhancer 0.2 FANTOM5 1.8 -57.0 -56959 0.1 KBTBD7 NAA16 MTRF1 ENSG00000277662
GH13I041179 Enhancer 0.8 Ensembl ENCODE 0.4 +14.8 14819 1.1 CEBPB MAFG BACH1 ZNF316 NFE2 EMSY MAFK NFE2L2 CALM2P3 KBTBD7 LOC101929140
GH13I041178 Enhancer 0.5 ENCODE 0.4 +15.8 15832 0.9 RFX1 RFX3 CEBPA CEBPB CEBPG ZNF507 CALM2P3 KBTBD7 LOC101929140
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KBTBD7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KBTBD7 gene promoter:

Genomic Locations for KBTBD7 Gene

Genomic Locations for KBTBD7 Gene
chr13:41,189,833-41,194,566
(GRCh38/hg38)
Size:
4,734 bases
Orientation:
Minus strand
chr13:41,763,969-41,768,702
(GRCh37/hg19)

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 isoforms=187, posLast=201201, posLast=403403, isoforms=452, posLast=511511, and isoforms=535

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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KBTBD7: view

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

Function 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:0004842 contributes_to ubiquitin-protein transferase activity IBA --
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 Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , 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 5
nucleus 4
mitochondrion 2

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 --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
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

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:0016567 protein ubiquitination IEA --
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 :
(7) Additional mRNA sequences :
(102) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KBTBD7 Gene

Kelch repeat and BTB (POZ) domain containing 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for KBTBD7 Gene

GeneLoc Exon Structure for
KBTBD7
ECgene alternative splicing isoforms for
KBTBD7

Expression for KBTBD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for KBTBD7 Gene



Protein tissue co-expression partners for KBTBD7 Gene

NURSA nuclear receptor signaling pathways regulating expression of KBTBD7 Gene:

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

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 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 33 34
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 96 (a)
ManyToMany
KBTBD7 33
  • 90.39 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 95 (a)
ManyToMany
KBTBD7 33
  • 89.05 (n)
mouse
(Mus musculus)
Mammalia Kbtbd7 33 16 34
  • 88.87 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd7 33
  • 67.17 (n)
Str.2171 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15710 33
zebrafish
(Danio rerio)
Actinopterygii kbtbd7 33 34
  • 58.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
Species where no ortholog for KBTBD7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for KBTBD7 Gene

(5) SIMAP similar genes for KBTBD7 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KBTBD7: view

Variants for KBTBD7 Gene

Sequence variations from dbSNP and Humsavar for KBTBD7 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs748092018 likely-benign, Oromandibular-limb hypogenesis spectrum 41,193,050(-) T/G coding_sequence_variant, missense_variant
rs754048481 likely-benign, Oromandibular-limb hypogenesis spectrum 41,192,762(-) G/A/C coding_sequence_variant, missense_variant
rs1000055195 -- 41,194,611(-) C/T upstream_transcript_variant
rs1002146520 -- 41,193,177(-) G/T coding_sequence_variant, missense_variant
rs1002812925 -- 41,195,845(-) G/A upstream_transcript_variant

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

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

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

Additional Disease Information for KBTBD7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KBTBD7 Gene.

No data available for MalaCards , 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58

Products for KBTBD7 Gene

Sources for KBTBD7 Gene

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