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    Zbtb40 zinc finger and BTB domain containing 40 [ Mus musculus (house mouse) ]

    Gene ID: 230848, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Zbtb40provided by MGI
    Official Full Name
    zinc finger and BTB domain containing 40provided by MGI
    Primary source
    MGI:MGI:2682254
    See related
    Ensembl:ENSMUSG00000060862 AllianceGenome:MGI:2682254
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm571; mKIAA0478; C230087D24
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in DNA damage response and regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Is expressed in genitourinary system. Orthologous to human ZBTB40 (zinc finger and BTB domain containing 40). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 3.9), ovary adult (RPKM 3.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Zbtb40 in Genome Data Viewer
    Location:
    4 D3; 4 69.05 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (136707043..136776129, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (136979732..137048820, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_11774 Neighboring gene complement component 1, q subcomponent, alpha polypeptide Neighboring gene Eph receptor A8 Neighboring gene predicted gene, 23834 Neighboring gene STARR-seq mESC enhancer starr_11775 Neighboring gene predicted gene, 31648 Neighboring gene predicted gene 13001

    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. Long noncoding RNA ZBTB40-IT1 regulates bone mass by directing the differentiation of human bone marrow mesenchymal stromal cells via the microRNA-514a-3p/FOXO4 axis. Shi Z, et al. Hum Cell, 2022 Sep. PMID 35676609
    2. Zbtb40 Deficiency Leads to Morphological and Phenotypic Abnormalities of Spermatocytes and Spermatozoa and Causes Male Infertility. Cui Y, et al. Cells, 2023 Apr 26. PMID 37174664, Free PMC Article
    3. Genetic analysis of osteoblast activity identifies Zbtb40 as a regulator of osteoblast activity and bone mass. Doolittle ML, et al. PLoS Genet, 2020 Jun. PMID 32497039, Free PMC Article
    4. ZBTB20 is crucial for the specification of a subset of callosal projection neurons and astrocytes in the mammalian neocortex. Medeiros de Araújo JA, et al. Development, 2021 Aug 15. PMID 34351428, Free PMC Article
    5. Interactome Analysis Reveals Regulator of G Protein Signaling 14 (RGS14) is a Novel Calcium/Calmodulin (Ca(2+)/CaM) and CaM Kinase II (CaMKII) Binding Partner. Evans PR, et al. J Proteome Res, 2018 Apr 6. PMID 29518331, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Zbtb40 Deficiency Leads to Morphological and Phenotypic Abnormalities of Spermatocytes and Spermatozoa and Causes Male Infertility.
      Title: Zbtb40 Deficiency Leads to Morphological and Phenotypic Abnormalities of Spermatocytes and Spermatozoa and Causes Male Infertility.
    2. Long noncoding RNA ZBTB40-IT1 regulates bone mass by directing the differentiation of human bone marrow mesenchymal stromal cells via the microRNA-514a-3p/FOXO4 axis.
      Title: Long noncoding RNA ZBTB40-IT1 regulates bone mass by directing the differentiation of human bone marrow mesenchymal stromal cells via the microRNA-514a-3p/FOXO4 axis.
    3. Genetic analysis of osteoblast activity identifies Zbtb40 as a regulator of osteoblast activity and bone mass.
      Title: Genetic analysis of osteoblast activity identifies Zbtb40 as a regulator of osteoblast activity and bone mass.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC62412

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 40

    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_198248.1 → NP_937891.1  zinc finger and BTB domain-containing protein 40

      See identical proteins and their annotated locations for NP_937891.1

      Status: PROVISIONAL

      Source sequence(s)
      BC059177
      Consensus CDS
      CCDS18814.1
      UniProtKB/TrEMBL
      Q571D3, Q6PCS8
      Related
      ENSMUSP00000061899.8, ENSMUST00000049583.8
      Conserved Domains (7) summary
      smart00225
      Location:25 → 113
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:872 → 1078
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:856 → 876
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:971 → 989
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:997 → 1019
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:19 → 113
      BTB; BTB/POZ domain
      pfam13465
      Location:925 → 950
      zf-H2C2_2; Zinc-finger double domain

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      136707043..136776129 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538763.5 → XP_006538826.1  zinc finger and BTB domain-containing protein 40 isoform X1

      UniProtKB/TrEMBL
      Q571D3
      Conserved Domains (4) summary
      COG5048
      Location:872 → 1077
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:856 → 876
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:970 → 988
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18225
      Location:1 → 116
      BTB_POZ_ZBTB40; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 40 (ZBTB40)

    2. XM_006538764.5 → XP_006538827.1  zinc finger and BTB domain-containing protein 40 isoform X2

      Conserved Domains (4) summary
      sd00017
      Location:827 → 848
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:854 → 876
      zf-C2H2; Zinc finger, C2H2 type
      cd18225
      Location:1 → 116
      BTB_POZ_ZBTB40; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 40 (ZBTB40)
      pfam13465
      Location:869 → 893
      zf-H2C2_2; Zinc-finger double domain
    Nucleotide Protein Strain
    Heading Accession and Version

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