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    Zfp248 zinc finger protein 248 [ Mus musculus (house mouse) ]

    Gene ID: 72720, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Zfp248provided by MGI
    Official Full Name
    zinc finger protein 248provided by MGI
    Primary source
    MGI:MGI:1919970
    See related
    Ensembl:ENSMUSG00000030145 AllianceGenome:MGI:1919970
    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
    2810037F07Rik; E130106N01Rik
    Summary
    Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Is expressed in limb and trunk somite. Orthologous to human ZNF248 (zinc finger protein 248). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E11.5 (RPKM 2.7), CNS E18 (RPKM 2.6) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 F1; 6 55.86 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (118404280..118432660, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (118427319..118455699, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30498 Neighboring gene STARR-seq mESC enhancer starr_17136 Neighboring gene BMS1, ribosome biogenesis factor Neighboring gene zinc finger protein 9 Neighboring gene zinc finger protein 248 pseudogene

    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. A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. Yokoyama S, et al. Dev Cell, 2009 Dec. PMID 20059953, Free PMC Article
    2. Mouse brain organization revealed through direct genome-scale TF expression analysis. Gray PA, et al. Science, 2004 Dec 24. PMID 15618518
    3. GUDMAP: the genitourinary developmental molecular anatomy project. McMahon AP, et al. J Am Soc Nephrol, 2008 Apr. PMID 18287559
    4. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC100019

    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
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    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
    		  

    General protein information

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    Preferred Names
    zinc finger protein 248

    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_001361899.1 → NP_001348828.1  zinc finger protein 248 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) 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. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AC140192
      Consensus CDS
      CCDS90111.1
      UniProtKB/TrEMBL
      Q9CZ86
      Conserved Domains (3) summary
      COG5048
      Location:302 → 368
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:390 → 410
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:430 → 455
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001361900.1 → NP_001348829.1  zinc finger protein 248 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) 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. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AC140192, AK012874, BC082571
      Consensus CDS
      CCDS90111.1
      UniProtKB/TrEMBL
      Q9CZ86
      Related
      ENSMUSP00000124539.2, ENSMUST00000161519.8
      Conserved Domains (3) summary
      COG5048
      Location:302 → 368
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:390 → 410
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:430 → 455
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001361901.1 → NP_001348830.1  zinc finger protein 248 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) 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. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AC140192, BC082571, CA750367
      Consensus CDS
      CCDS90111.1
      UniProtKB/TrEMBL
      Q9CZ86
      Conserved Domains (3) summary
      COG5048
      Location:302 → 368
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:390 → 410
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:430 → 455
      zf-H2C2_2; Zinc-finger double domain

    4. NM_028335.2 → NP_082611.1  zinc finger protein 248 isoform a

      See identical proteins and their annotated locations for NP_082611.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC140192, BC082571
      Consensus CDS
      CCDS51884.1
      UniProtKB/TrEMBL
      Q640N4
      Related
      ENSMUSP00000068807.8, ENSMUST00000069292.14
      Conserved Domains (4) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:403 → 469
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:491 → 511
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:531 → 556
      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_000072.7 Reference GRCm39 C57BL/6J

      Range
      118404280..118432660 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152325.1 → XP_036008218.1  zinc finger protein 248 isoform X1

      UniProtKB/TrEMBL
      Q640N4
      Conserved Domains (4) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:403 → 469
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:491 → 511
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:531 → 556
      zf-H2C2_2; Zinc-finger double domain

    2. XM_006506676.3 → XP_006506739.1  zinc finger protein 248 isoform X1

      See identical proteins and their annotated locations for XP_006506739.1

      UniProtKB/TrEMBL
      Q640N4
      Conserved Domains (4) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:403 → 469
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:491 → 511
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:531 → 556
      zf-H2C2_2; Zinc-finger double domain

    3. XM_036152327.1 → XP_036008220.1  zinc finger protein 248 isoform X2

      UniProtKB/TrEMBL
      Q9CZ86
      Conserved Domains (3) summary
      COG5048
      Location:302 → 368
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:390 → 410
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:430 → 455
      zf-H2C2_2; Zinc-finger double domain

    4. XM_036152328.1 → XP_036008221.1  zinc finger protein 248 isoform X2

      UniProtKB/TrEMBL
      Q9CZ86
      Conserved Domains (3) summary
      COG5048
      Location:302 → 368
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:390 → 410
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:430 → 455
      zf-H2C2_2; Zinc-finger double domain

    5. XM_030255603.1 → XP_030111463.1  zinc finger protein 248 isoform X2

      UniProtKB/TrEMBL
      Q9CZ86
      Conserved Domains (3) summary
      COG5048
      Location:302 → 368
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:390 → 410
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:430 → 455
      zf-H2C2_2; Zinc-finger double domain

    6. XM_036152326.1 → XP_036008219.1  zinc finger protein 248 isoform X2

      UniProtKB/TrEMBL
      Q9CZ86
      Conserved Domains (3) summary
      COG5048
      Location:302 → 368
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:390 → 410
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:430 → 455
      zf-H2C2_2; Zinc-finger double domain

    7. XM_030255604.2 → XP_030111464.1  zinc finger protein 248 isoform X2

      UniProtKB/TrEMBL
      Q9CZ86
      Conserved Domains (3) summary
      COG5048
      Location:302 → 368
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:390 → 410
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:430 → 455
      zf-H2C2_2; Zinc-finger double domain
    Nucleotide Protein Strain
    Heading Accession and Version

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