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Aliases for KBTBD2 Gene

Aliases for KBTBD2 Gene

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

Additional gene information for KBTBD2 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for KBTBD2 Gene

Promoters and enhancers for KBTBD2 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
GH07I032887 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 559.3 +3.0 2950 6.8 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 KBTBD2 RP9P DPY19L1P1 PIR49739
GH07I032941 Promoter/Enhancer 1.5 Ensembl ENCODE 17.4 -48.4 -48407 2.7 SIN3A DMAP1 ZNF48 YY1 ZNF280A TCF12 ZNF766 GLIS2 ELK1 ZNF143 RP9P KBTBD2 FKBP9
GH07I032956 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.5 -63.7 -63686 2.7 ARNT ARID4B SIN3A DMAP1 ZBTB7B ZNF263 SP3 SP5 SMARCB1 KAT8 FKBP9 RP9P KBTBD2 NT5C3A RP9 RNU6-388P
GH07I032905 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -11.7 -11718 1.7 PKNOX1 ATF1 ARNT SIN3A NCOA2 POLR2B ZNF766 ATF7 NCOA1 REST KBTBD2 RP9P
GH07I032878 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.5 +14.7 14650 1.5 HDGF PKNOX1 ATF1 FOXA2 ARNT TCF12 NCOA1 ZNF592 GMEB1 SMARCA4 KBTBD2 PIR49739
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KBTBD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KBTBD2 gene promoter:

Genomic Locations for KBTBD2 Gene

Genomic Locations for KBTBD2 Gene
chr7:32,868,166-32,894,131
(GRCh38/hg38)
Size:
25,966 bases
Orientation:
Minus strand
chr7:32,907,778-32,933,743
(GRCh37/hg19)

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

Post-translational modifications for KBTBD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KBTBD2 Gene

Domains & Families for KBTBD2 Gene

Gene Families for KBTBD2 Gene

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

Suggested Antigen Peptide Sequences for KBTBD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for KBTBD2 Gene

Function for KBTBD2 Gene

Phenotypes From GWAS Catalog 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
genes like me logo Genes that share phenotypes with KBTBD2: view

Animal Model Products

Clone 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
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 KBTBD2 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KBTBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KBTBD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KBTBD2 Gene

Pathways & Interactions for KBTBD2 Gene

SuperPathways for KBTBD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KBTBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KBTBD2: view

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KBTBD2 Gene



Protein tissue co-expression partners for KBTBD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of KBTBD2 Gene:

KBTBD2

SOURCE GeneReport for Unigene cluster for KBTBD2 Gene:

Hs.372541

Evidence on tissue expression from TISSUES for KBTBD2 Gene

  • Nervous system(4.6)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with KBTBD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia KBTBD2 33 34
  • 99.68 (n)
oppossum
(Monodelphis domestica)
Mammalia KBTBD2 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KBTBD2 33 34
  • 94.74 (n)
dog
(Canis familiaris)
Mammalia KBTBD2 33 34
  • 94.38 (n)
mouse
(Mus musculus)
Mammalia Kbtbd2 33 16 34
  • 91.81 (n)
rat
(Rattus norvegicus)
Mammalia Kbtbd2 33
  • 91.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD2 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD2 33 34
  • 84.8 (n)
lizard
(Anolis carolinensis)
Reptilia KBTBD2 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kbtbd2 33
  • 79.31 (n)
Str.4184 33
zebrafish
(Danio rerio)
Actinopterygii kbtbd2 33 34
  • 71.03 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1560 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToMany
Species where no ortholog for KBTBD2 was found in the sources mined by GeneCards:
  • 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

(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 Variation AA Info Type
rs1000042026 -- 32,879,908(-) G/A 5_prime_UTR_variant
rs1000126168 -- 32,891,023(-) G/A 5_prime_UTR_variant, intron_variant
rs1000214870 -- 32,875,740(-) T/G intron_variant
rs1000457866 -- 32,889,986(-) T/C intron_variant
rs1000500856 -- 32,885,414(-) T/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1080e201 CNV deletion 23290073
esv3612750 OTHER inversion 21293372
nsv1028847 CNV gain 25217958
nsv1029220 CNV gain 25217958
nsv1135982 CNV deletion 24896259
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)

Additional Variant Information for KBTBD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD2

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

Disorders for KBTBD2 Gene

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. 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
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 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. Insulin resistance and diabetes caused by genetic or diet-induced KBTBD2 deficiency in mice. (PMID: 27708159) Zhang Z … Beutler B (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 58

Products for KBTBD2 Gene

Sources for KBTBD2 Gene

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