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

Summary

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: Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Acts upstream of or within with a positive effect on several processes, including glucose metabolic process; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to insulin. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Orthologous to human KBTBD2 (kelch repeat and BTB domain containing 2). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (4) 1 citation
Targeted (2)

General gene information

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Markers

WI-11592 (e-PCR)
- UniSTS:20125

AA819232 (e-PCR)
- UniSTS:261562

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like ligase-substrate adaptor activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin-like ligase-substrate adaptor activity	ISO Inferred from Sequence Orthology more info

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
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K48-linked ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein K48-linked ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in regulation of cellular response to insulin stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect response to insulin	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	ISO Inferred from Sequence Orthology more info

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)

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
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
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
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
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
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