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KBTBD2 kelch repeat and BTB domain containing 2 [ Homo sapiens (human) ]

Gene ID: 25948, updated on 5-Mar-2024

Summary

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Official Symbol
KBTBD2provided by HGNC
Official Full Name
kelch repeat and BTB domain containing 2provided by HGNC
Primary source
HGNC:HGNC:21751
See related
Ensembl:ENSG00000170852 MIM:619393; AllianceGenome:HGNC:21751
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BKLHD1
Summary
Predicted to act upstream of or within with a positive effect on several processes, including glucose metabolic process; phosphatidylinositol 3-kinase signaling; and response to insulin. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in gall bladder (RPKM 16.7), bone marrow (RPKM 14.7) and 25 other tissues See more
Orthologs
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Genomic context

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See KBTBD2 in Genome Data Viewer
Location:
7p14.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (32868172..32892166, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (33007774..33031785, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (32907784..32931372, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32827661-32828162 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:32832110-32832299 Neighboring gene NANOG hESC enhancer GRCh37_chr7:32872065-32872605 Neighboring gene DPY19L1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32884101-32884602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32884603-32885102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32928372-32928897 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:32931453-32932156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32945163-32945664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32945665-32946164 Neighboring gene RP9 pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:32980636-32981524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18082 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18083 Neighboring gene ribosomal protein L7a pseudogene 78

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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
  2. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Chatrathi HE, et al. Hypertension, 2022 Jan. PMID 34878901, Free PMC Article
  3. UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. Alexandru G, et al. Cell, 2008 Sep 5. PMID 18775313, Free PMC Article
  4. 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. Nagase T, et al. DNA Res, 2000 Apr 28. PMID 10819331
  5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in glucose metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in response to insulin IEA
Inferred from Electronic Annotation
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
BTB and kelch domain-containing protein 1
kelch repeat and BTB (POZ) domain containing 2

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_015483.3 → NP_056298.2  kelch repeat and BTB domain-containing protein 2

    See identical proteins and their annotated locations for NP_056298.2

    Status: VALIDATED

    Source sequence(s)
    AC018648, BC037887
    Consensus CDS
    CCDS34614.1
    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38
    Related
    ENSP00000302586.4, ENST00000304056.9
    Conserved Domains (4) summary
    PHA03098
    Location:23 → 516
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:310 → 366
    Kelch; KELCH repeat [structural motif]
    cd18270
    Location:5 → 137
    BTB_POZ_KBTBD2_BKLHD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
    cd18479
    Location:128 → 223
    BACK_KBTBD2; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    32868172..32892166 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515256.3 → XP_011513558.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011513558.1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38
    Conserved Domains (4) summary
    PHA03098
    Location:23 → 516
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:310 → 366
    Kelch; KELCH repeat [structural motif]
    cd18270
    Location:5 → 137
    BTB_POZ_KBTBD2_BKLHD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
    cd18479
    Location:128 → 223
    BACK_KBTBD2; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)

  2. XM_047420125.1 → XP_047276081.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38

  3. XM_047420124.1 → XP_047276080.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38

  4. XM_005249696.3 → XP_005249753.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005249753.1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38
    Conserved Domains (4) summary
    PHA03098
    Location:23 → 516
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:310 → 366
    Kelch; KELCH repeat [structural motif]
    cd18270
    Location:5 → 137
    BTB_POZ_KBTBD2_BKLHD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)
    cd18479
    Location:128 → 223
    BACK_KBTBD2; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 2 (KBTBD2)

  5. XM_047420127.1 → XP_047276083.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38

  6. XM_047420126.1 → XP_047276082.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    33007774..33031785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357778.1 → XP_054213753.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38

  2. XM_054357774.1 → XP_054213749.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38

  3. XM_054357773.1 → XP_054213748.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38

  4. XM_054357777.1 → XP_054213752.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38

  5. XM_054357776.1 → XP_054213751.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38

  6. XM_054357775.1 → XP_054213750.1  kelch repeat and BTB domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9T7, Q86Y62, Q8IY47, Q9P239, Q9UFM7, Q9Y382
    UniProtKB/TrEMBL
    A0A024RA38
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IY47.2 GenPept UniProtKB/Swiss-Prot:Q8IY47

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