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Aliases for KBTBD8 Gene

Aliases for KBTBD8 Gene

  • Kelch Repeat And BTB Domain Containing 8 2 3 5
  • T-Cell Activation Kelch Repeat Protein 2 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 8 2 3
  • TA-KRP 3 4
  • TAKRP 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 8 3
  • KIAA1842 4

External Ids for KBTBD8 Gene

Previous GeneCards Identifiers for KBTBD8 Gene

  • GC03P067132

Summaries for KBTBD8 Gene

GeneCards Summary for KBTBD8 Gene

KBTBD8 (Kelch Repeat And BTB Domain Containing 8) is a Protein Coding gene. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KBTBD2.

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 KBTBD8 Gene

Genomics for KBTBD8 Gene

Regulatory Elements for KBTBD8 Gene

Enhancers for KBTBD8 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
GH03F066997 1.4 FANTOM5 Ensembl ENCODE 26.3 +1.4 1371 5.1 HDGF PKNOX1 ATF1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ETS1 KBTBD8 GC03M067025
GH03F066988 0.9 Ensembl ENCODE 0.4 -8.7 -8680 2.8 GTF2F1 CTCF WRNIP1 TEAD4 EBF1 ZNF644 RAD21 RFX5 YY1 ZNF316 KBTBD8 LOC105377144
GH03F067006 0.6 ENCODE 0.4 +8.3 8329 0.1 ZXDB KBTBD8 GC03M067025
GH03F067015 1.3 Ensembl ENCODE 0.3 +18.5 18467 1.8 HDAC1 PKNOX1 ATF1 TBL1XR1 CHAMP1 EGR1 GATA2 SCRT2 CREM ZBTB2 KBTBD8 GC03M067025
GH03F067018 0.6 Ensembl ENCODE 0.3 +20.4 20398 1.0 ZSCAN18 ZBTB48 ZBTB20 NFIA L3MBTL2 ZBTB11 NR2F1 JUNB ZNF518A PPARG GC03M067025 KBTBD8
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KBTBD8 on UCSC Golden Path with GeneCards custom track

Promoters for KBTBD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001366536 397 2201 HDGF ATF1 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ETS1
ENSR00001848988 1897 401 PKNOX1 ATF1 MTA2 JUNB TBX21 ARID1B MEF2D ATF3 IKZF1 PBX2

Genomic Location for KBTBD8 Gene

Chromosome:
3
Start:
66,998,303 bp from pter
End:
67,011,211 bp from pter
Size:
12,909 bases
Orientation:
Plus strand

Genomic View for KBTBD8 Gene

Genes around KBTBD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD8 Gene

Proteins for KBTBD8 Gene

  • Protein details for KBTBD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFY9-KBTB8_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 8
    Protein Accession:
    Q8NFY9
    Secondary Accessions:
    • B4DTW6
    • Q96JI5

    Protein attributes for KBTBD8 Gene

    Size:
    601 amino acids
    Molecular mass:
    68823 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI17488.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAM43839.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for KBTBD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KBTBD8 Gene

Post-translational modifications for KBTBD8 Gene

  • Ubiquitination at Lys 268
  • Modification sites at PhosphoSitePlus

Other Protein References for KBTBD8 Gene

No data available for DME Specific Peptides for KBTBD8 Gene

Domains & Families for KBTBD8 Gene

Gene Families for KBTBD8 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NFY9

UniProtKB/Swiss-Prot:

KBTB8_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 KBTBD8: view

Function for KBTBD8 Gene

Gene Ontology (GO) - Molecular Function for KBTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KBTBD8: view
genes like me logo Genes that share phenotypes with KBTBD8: view

Animal Model Products

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 KBTBD8 Gene

Localization for KBTBD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KBTBD8 Gene

Cytoplasm, cytoskeleton, spindle. Golgi apparatus. Note=Translocates to the spindle apparatus during mitosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KBTBD8 Gene COMPARTMENTS Subcellular localization image for KBTBD8 gene
Compartment Confidence
cytoskeleton 4
golgi apparatus 4
cytosol 3
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for KBTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KBTBD8: view

Pathways & Interactions for KBTBD8 Gene

genes like me logo Genes that share pathways with KBTBD8: view

Gene Ontology (GO) - Biological Process for KBTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KBTBD8: view

No data available for SIGNOR curated interactions for KBTBD8 Gene

Transcripts for KBTBD8 Gene

Unigene Clusters for KBTBD8 Gene

Kelch repeat and BTB (POZ) domain containing 8:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD8 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b
SP1: -
SP2: - - - - -
SP3: - -
SP4:

Relevant External Links for KBTBD8 Gene

GeneLoc Exon Structure for
KBTBD8
ECgene alternative splicing isoforms for
KBTBD8

Expression for KBTBD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KBTBD8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KBTBD8 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (56.0) and Testis (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KBTBD8 Gene



Protein tissue co-expression partners for KBTBD8 Gene

NURSA nuclear receptor signaling pathways regulating expression of KBTBD8 Gene:

KBTBD8

SOURCE GeneReport for Unigene cluster for KBTBD8 Gene:

Hs.116665
genes like me logo Genes that share expression patterns with KBTBD8: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KBTBD8 Gene

Orthologs for KBTBD8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KBTBD8 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia KBTBD8 34 35
  • 94.51 (n)
cow
(Bos Taurus)
Mammalia KBTBD8 34 35
  • 94.01 (n)
mouse
(Mus musculus)
Mammalia Kbtbd8 34 16 35
  • 93.04 (n)
rat
(Rattus norvegicus)
Mammalia Kbtbd8 34
  • 92.51 (n)
oppossum
(Monodelphis domestica)
Mammalia KBTBD8 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD8 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD8 34 35
  • 85.97 (n)
lizard
(Anolis carolinensis)
Reptilia KBTBD8 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd8 34
  • 76.2 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13285 34
zebrafish
(Danio rerio)
Actinopterygii kbtbd8 34 35
  • 69.33 (n)
wufc57a10 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
OneToMany
Species where no ortholog for KBTBD8 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)
  • 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 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 KBTBD8 Gene

ENSEMBL:
Gene Tree for KBTBD8 (if available)
TreeFam:
Gene Tree for KBTBD8 (if available)

Paralogs for KBTBD8 Gene

Paralogs for KBTBD8 Gene

genes like me logo Genes that share paralogs with KBTBD8: view

Variants for KBTBD8 Gene

Sequence variations from dbSNP and Humsavar for KBTBD8 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_036082 A breast cancer sample
VAR_036083 A breast cancer sample
rs111239173 -- 66,997,927(+) TGCCG(A/G)GGGCC upstream-variant-2KB
rs111247379 -- 67,001,139(+) GATAC(A/G)ATATG intron-variant
rs112490624 -- 67,007,983(+) ATGAC(C/T)GTGCC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for KBTBD8 Gene

Variant ID Type Subtype PubMed ID
nsv1003158 CNV loss 25217958
nsv1005823 CNV gain 25217958
nsv508220 CNV deletion 20534489
nsv590546 CNV gain 21841781

Variation tolerance for KBTBD8 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.26; 76.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KBTBD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD8 Gene

Disorders for KBTBD8 Gene

Relevant External Links for KBTBD8

Genetic Association Database (GAD)
KBTBD8
Human Genome Epidemiology (HuGE) Navigator
KBTBD8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KBTBD8

No disorders were found for KBTBD8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KBTBD8 Gene

Publications for KBTBD8 Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 64
  2. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim J.J. … Lee J.K. (J. Hum. Genet. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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
  5. The novel BTB-kelch protein, KBTBD8, is located in the Golgi apparatus and translocates to the spindle apparatus during mitosis. (PMID: 23578279) Luhrig S. … Nolte J. (Cell Div. 2013) 4 64

Products for KBTBD8 Gene

Sources for KBTBD8 Gene

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