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Aliases for KBTBD2 Gene

Aliases for KBTBD2 Gene

  • Kelch Repeat And BTB Domain Containing 2 2 3
  • Kelch Repeat And BTB (POZ) Domain Containing 2 2 3 5
  • BTB And Kelch Domain-Containing Protein 1 3 4
  • BTB And Kelch Domain Containing 1 2 3
  • BKLHD1 3 4
  • KIAA1489 4

External Ids for KBTBD2 Gene

Previous HGNC Symbols for KBTBD2 Gene

  • BKLHD1

Previous GeneCards Identifiers for KBTBD2 Gene

  • GC07M032650
  • GC07M032681
  • GC07M032874

Summaries for KBTBD2 Gene

GeneCards Summary for KBTBD2 Gene

KBTBD2 (Kelch Repeat And BTB Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is KBTBD8.

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 KBTBD2 Gene

Genomics for KBTBD2 Gene

Regulatory Elements for KBTBD2 Gene

Enhancers for KBTBD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KBTBD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KBTBD2 Gene

Chromosome:
7
Start:
32,868,166 bp from pter
End:
32,894,131 bp from pter
Size:
25,966 bases
Orientation:
Minus strand

Genomic View for KBTBD2 Gene

Genes around KBTBD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD2 Gene

Proteins for KBTBD2 Gene

  • Protein details for KBTBD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY47-KBTB2_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 2
    Protein Accession:
    Q8IY47
    Secondary Accessions:
    • A8K9T7
    • Q86Y62
    • Q9P239
    • Q9UFM7
    • Q9Y382

    Protein attributes for KBTBD2 Gene

    Size:
    623 amino acids
    Molecular mass:
    71331 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD34068.1; Type=Frameshift; Positions=328; Evidence={ECO:0000305};

neXtProt entry for KBTBD2 Gene

Proteomics data for KBTBD2 Gene at MOPED

Post-translational modifications for KBTBD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KBTBD2 Gene

No data available for DME Specific Peptides for KBTBD2 Gene

Domains & Families for KBTBD2 Gene

Gene Families for KBTBD2 Gene

Suggested Antigen Peptide Sequences for KBTBD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IY47

UniProtKB/Swiss-Prot:

KBTB2_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Contains 5 Kelch repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with KBTBD2: view

Function for KBTBD2 Gene

Gene Ontology (GO) - Molecular Function for KBTBD2 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 KBTBD2: view

Phenotypes for KBTBD2 Gene

GenomeRNAi human phenotypes for KBTBD2:
genes like me logo Genes that share phenotypes with KBTBD2: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD2 Gene

Localization for KBTBD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KBTBD2 Gene COMPARTMENTS Subcellular localization image for KBTBD2 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KBTBD2 Gene

Pathways & Interactions for KBTBD2 Gene

SuperPathways for KBTBD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KBTBD2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KBTBD2 Gene

Drugs & Compounds for KBTBD2 Gene

No Compound Related Data Available

Transcripts for KBTBD2 Gene

Unigene Clusters for KBTBD2 Gene

Kelch repeat and BTB (POZ) domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6a · 6b
SP1: - - - - - -
SP2:
SP3: - - - -
SP4: -
SP5:

Relevant External Links for KBTBD2 Gene

GeneLoc Exon Structure for
KBTBD2
ECgene alternative splicing isoforms for
KBTBD2

Expression for KBTBD2 Gene

mRNA expression in normal human tissues for KBTBD2 Gene

Protein differential expression in normal tissues from HIPED for KBTBD2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (52.5) and Cervix (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KBTBD2 Gene



SOURCE GeneReport for Unigene cluster for KBTBD2 Gene Hs.372541

genes like me logo Genes that share expression patterns with KBTBD2: view

Protein tissue co-expression partners for KBTBD2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KBTBD2 Gene

Orthologs for KBTBD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KBTBD2 35
  • 94.74 (n)
  • 98.93 (a)
KBTBD2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KBTBD2 35
  • 94.38 (n)
  • 99.36 (a)
KBTBD2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kbtbd2 35
  • 91.81 (n)
  • 98.56 (a)
Kbtbd2 16
Kbtbd2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KBTBD2 35
  • 99.68 (n)
  • 99.84 (a)
KBTBD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kbtbd2 35
  • 91.81 (n)
  • 98.72 (a)
oppossum
(Monodelphis domestica)
Mammalia KBTBD2 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD2 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD2 35
  • 84.8 (n)
  • 94.38 (a)
KBTBD2 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KBTBD2 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd2 35
  • 79.31 (n)
  • 85.05 (a)
Str.4184 35
zebrafish
(Danio rerio)
Actinopterygii kbtbd2 35
  • 71.03 (n)
  • 79 (a)
kbtbd2 36
  • 78 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1560 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for KBTBD2:
  • A. gosspyii yeast (Ashbya 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)
  • 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 KBTBD2 Gene

ENSEMBL:
Gene Tree for KBTBD2 (if available)
TreeFam:
Gene Tree for KBTBD2 (if available)

Paralogs for KBTBD2 Gene

Paralogs for KBTBD2 Gene

(3) SIMAP similar genes for KBTBD2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for KBTBD2 Gene

genes like me logo Genes that share paralogs with KBTBD2: view

Variants for KBTBD2 Gene

Sequence variations from dbSNP and Humsavar for KBTBD2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs17853781 - 32,870,721(+) GTCCT(G/T)ATGAT reference, missense
rs17854425 - 32,870,651(+) CCTTT(C/T)CTACA reference, missense
rs35477666 - 32,870,640(+) AACGG(G/T)TTCTT reference, missense
rs17857323 - 32,870,456(+) ACTTG(C/G)GCATG reference, missense
rs17857324 - 32,870,315(+) CTGGT(C/G)GGCTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KBTBD2 Gene

Variant ID Type Subtype PubMed ID
dgv1127e201 CNV Deletion 23290073
nsv436907 CNV Insertion 17901297

Variation tolerance for KBTBD2 Gene

Residual Variation Intolerance Score: 7.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KBTBD2 Gene

HapMap Linkage Disequilibrium report
KBTBD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD2 Gene

Disorders for KBTBD2 Gene

Relevant External Links for KBTBD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KBTBD2

No disorders were found for KBTBD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KBTBD2 Gene

Publications for KBTBD2 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3
  5. UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. (PMID: 18775313) Alexandru G. … Deshaies R.J. (Cell 2008) 3

Products for KBTBD2 Gene

Sources for KBTBD2 Gene

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