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    Kbtbd2 kelch repeat and BTB (POZ) domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 210973, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Kbtbd2provided by MGI
    Official Full Name
    kelch repeat and BTB (POZ) domain containing 2provided by MGI
    Primary source
    MGI:MGI:2384811
    See related
    Ensembl:ENSMUSG00000059486 AllianceGenome:MGI:2384811
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Bklhd1; mKIAA1489
    Summary
    Acts upstream of or within with a positive effect on several processes, including glucose metabolic process; phosphatidylinositol 3-kinase signaling; and response to insulin. Orthologous to human KBTBD2 (kelch repeat and BTB domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 8.6), placenta adult (RPKM 8.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Kbtbd2 in Genome Data Viewer
    Location:
    6 B3; 6 27.73 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (56754510..56774798, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (56777525..56797813, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:56654682-56654884 Neighboring gene STARR-seq mESC enhancer starr_15990 Neighboring gene STARR-positive B cell enhancer ABC_E679 Neighboring gene LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene AVL9 cell migration associated Neighboring gene STARR-seq mESC enhancer starr_15991 Neighboring gene STARR-positive B cell enhancer ABC_E4829 Neighboring gene predicted gene 10209 Neighboring gene STARR-seq mESC enhancer starr_15993 Neighboring gene FK506 binding protein 9 Neighboring gene STARR-seq mESC enhancer starr_15995 Neighboring gene 5'-nucleotidase, cytosolic III Neighboring gene predicted gene, 53332

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Kbtbd2 inhibits the cytotoxic activity of immortalized NK cells through down-regulating mTOR signaling in a mouse hepatocellular carcinoma model. Dai K, et al. Eur J Immunol, 2018 Apr. PMID 29331106
    2. Tissue-specific disruption of Kbtbd2 uncovers adipocyte-intrinsic and -extrinsic features of the teeny lipodystrophy syndrome. Zhang Z, et al. Proc Natl Acad Sci U S A, 2020 May 26. PMID 32381739, Free PMC Article
    3. Insulin resistance and diabetes caused by genetic or diet-induced KBTBD2 deficiency in mice. Zhang Z, et al. Proc Natl Acad Sci U S A, 2016 Oct 18. PMID 27708159, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
    5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KBTBD2 promotes proliferation and migration of gastric cancer via activating EGFR signaling pathway.
      Title: KBTBD2 promotes proliferation and migration of gastric cancer via activating EGFR signaling pathway.
    2. Tissue-specific disruption of Kbtbd2 uncovers adipocyte-intrinsic and -extrinsic features of the teeny lipodystrophy syndrome.
      Title: Tissue-specific disruption of Kbtbd2 uncovers adipocyte-intrinsic and -extrinsic features of the teeny lipodystrophy syndrome.
    3. This investigation indicates that Kbtbd2 is an inhibitory molecule for the tumoricidal activity of KIL C.2 Natural killer cells and perhaps intratumoral Natural killer cells.
      Title: Kbtbd2 inhibits the cytotoxic activity of immortalized NK cells through down-regulating mTOR signaling in a mouse hepatocellular carcinoma model.
    4. KBTBD2 is an essential regulator of the insulin-signaling pathway, modulating insulin sensitivity by limiting p85alpha abundance.
      Title: Insulin resistance and diabetes caused by genetic or diet-induced KBTBD2 deficiency in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC36672

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within_positive_effect gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect lipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect response to insulin IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch repeat and BTB domain-containing protein 2
    Names
    BTB and kelch domain containing 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001362209.1 → NP_001349138.1  kelch repeat and BTB domain-containing protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1-5 all encode the same isoform (a).
      Source sequence(s)
      AC115003
      Consensus CDS
      CCDS51790.1
      UniProtKB/Swiss-Prot
      G3X9X1
      UniProtKB/TrEMBL
      Q6ZPP6
      Conserved Domains (2) summary
      sd00038
      Location:374 → 415
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:23 → 516
      BTB; Broad-Complex, Tramtrack and Bric a brac

    2. NM_001362210.1 → NP_001349139.1  kelch repeat and BTB domain-containing protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).
      Source sequence(s)
      AC115003
      Consensus CDS
      CCDS51790.1
      UniProtKB/Swiss-Prot
      G3X9X1
      UniProtKB/TrEMBL
      Q6ZPP6
      Related
      ENSMUSP00000109962.2, ENSMUST00000114323.8
      Conserved Domains (2) summary
      sd00038
      Location:374 → 415
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:23 → 516
      BTB; Broad-Complex, Tramtrack and Bric a brac

    3. NM_001362211.1 → NP_001349140.1  kelch repeat and BTB domain-containing protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).
      Source sequence(s)
      AC115003
      Consensus CDS
      CCDS51790.1
      UniProtKB/Swiss-Prot
      G3X9X1
      UniProtKB/TrEMBL
      Q6ZPP6
      Conserved Domains (2) summary
      sd00038
      Location:374 → 415
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:23 → 516
      BTB; Broad-Complex, Tramtrack and Bric a brac

    4. NM_001362212.1 → NP_001349141.1  kelch repeat and BTB domain-containing protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).
      Source sequence(s)
      AC115003
      Consensus CDS
      CCDS51790.1
      UniProtKB/Swiss-Prot
      G3X9X1
      UniProtKB/TrEMBL
      Q6ZPP6
      Conserved Domains (2) summary
      sd00038
      Location:374 → 415
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:23 → 516
      BTB; Broad-Complex, Tramtrack and Bric a brac

    5. NM_001362213.1 → NP_001349142.1  kelch repeat and BTB domain-containing protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC115003
      UniProtKB/TrEMBL
      Q6ZPP6
      Conserved Domains (2) summary
      sd00038
      Location:316 → 357
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:27 → 458
      BTB; Broad-Complex, Tramtrack and Bric a brac

    6. NM_145958.2 → NP_666070.2  kelch repeat and BTB domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_666070.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).
      Source sequence(s)
      AK129374, BB625049, CJ053450
      Consensus CDS
      CCDS51790.1
      UniProtKB/Swiss-Prot
      G3X9X1
      UniProtKB/TrEMBL
      Q6ZPP6
      Related
      ENSMUSP00000109960.2, ENSMUST00000114321.2
      Conserved Domains (2) summary
      sd00038
      Location:374 → 415
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:23 → 516
      BTB; Broad-Complex, Tramtrack and Bric a brac

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      56754510..56774798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    G3X9X1.1 GenPept UniProtKB/Swiss-Prot:G3X9X1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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