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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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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

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