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

    Gene ID: 25948, updated on 27-Nov-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
    Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein K48-linked ubiquitination and regulation of cellular response to insulin stimulus. Is active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in gall bladder (RPKM 16.7), bone marrow (RPKM 14.7) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (32868172..32892166, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (33007774..33031785, complement)
    RS_2024_09 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. Dynamic molecular architecture and substrate recruitment of cullin3-RING E3 ligase CRL3(KBTBD2). Hu Y, et al. Nat Struct Mol Biol, 2024 Feb. PMID 38332366
    2. 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
    3. 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
    4. UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. Alexandru G, et al. Cell, 2008 Sep 5. PMID 18775313, Free PMC Article
    5. A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development. Asmar AJ, et al. Nat Commun, 2023 Jul 26. PMID 37495603, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dynamic molecular architecture and substrate recruitment of cullin3-RING E3 ligase CRL3[KBTBD2].
      Title: Dynamic molecular architecture and substrate recruitment of cullin3-RING E3 ligase CRL3(KBTBD2).
    Submit: New GeneRIF Correction

    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)

    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

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cellular response to insulin stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    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
    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_2024_08

    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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