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Aliases for KBTBD8 Gene

Aliases for KBTBD8 Gene

  • Kelch Repeat And BTB (POZ) Domain Containing 8 2 3
  • T-Cell Activation Kelch Repeat Protein 2 3 4
  • TA-KRP 3 4
  • KIAA1842 4
  • TAKRP 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 (POZ) Domain Containing 8) is a Protein Coding gene. Diseases associated with KBTBD8 include treacher collins syndrome 1. An important paralog of this gene is KBTBD6.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for KBTBD8 Gene at MOPED

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 --
GO:0005515 protein binding --
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for KBTBD8

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 3
golgi apparatus 3

Gene Ontology (GO) - Cellular Components for KBTBD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005819 spindle 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

SuperPathways for KBTBD8 Gene

No Data Available

Interacting Proteins for KBTBD8 Gene

Gene Ontology (GO) - Biological Process for KBTBD8 Gene

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

No data available for Pathways by source and SIGNOR curated interactions for KBTBD8 Gene

Drugs & Compounds for KBTBD8 Gene

No Compound Related Data Available

Transcripts for KBTBD8 Gene

Unigene Clusters for KBTBD8 Gene

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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KBTBD8

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 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, MOPED, and MaxQB for KBTBD8 Gene



SOURCE GeneReport for Unigene cluster for KBTBD8 Gene Hs.116665

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

Protein tissue co-expression partners for KBTBD8 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia KBTBD8 35
  • 94.01 (n)
  • 98.17 (a)
KBTBD8 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KBTBD8 35
  • 94.51 (n)
  • 97 (a)
KBTBD8 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kbtbd8 35
  • 93.04 (n)
  • 97.83 (a)
Kbtbd8 16
Kbtbd8 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KBTBD8 35
  • 99.78 (n)
  • 99.83 (a)
KBTBD8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kbtbd8 35
  • 92.51 (n)
  • 97.67 (a)
oppossum
(Monodelphis domestica)
Mammalia KBTBD8 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD8 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD8 35
  • 85.97 (n)
  • 89.35 (a)
KBTBD8 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KBTBD8 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd8 35
  • 76.2 (n)
  • 78.93 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13285 35
zebrafish
(Danio rerio)
Actinopterygii kbtbd8 35
  • 69.33 (n)
  • 74 (a)
wufc57a10 35
kbtbd8 36
  • 73 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for KBTBD8:
  • 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

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 MAF
rs2364281 -- 66,999,779(-) CATTT(A/C)AACAA intron-variant
rs4856833 -- 66,998,338(+) TGGAG(C/T)CGGGG utr-variant-5-prime
rs6549565 -- 67,004,720(+) ATTCT(A/G)TGGAA intron-variant
rs6549575 -- 67,011,536(+) atggc(A/G)gaggg downstream-variant-500B
rs6549576 -- 67,011,594(+) ttcct(C/G)tctct downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv508220 CNV Loss 20534489

Variation tolerance for KBTBD8 Gene

Residual Variation Intolerance Score: 10.06% 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

HapMap Linkage Disequilibrium report
KBTBD8

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

Disorders for KBTBD8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KBTBD8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
treacher collins syndrome 1
  • treacher collins syndrome
- elite association

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

No data available for 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 67
  2. 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) 67
  3. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PMID: 22797727) Okada Y. … Tanaka T. (Nat. Genet. 2012) 67
  4. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim J.J. … Lee J.K. (J. Hum. Genet. 2010) 67
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 67

Products for KBTBD8 Gene

Sources for KBTBD8 Gene

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