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    3425401B19Rik RIKEN cDNA 3425401B19 gene [ Mus musculus (house mouse) ]

    Gene ID: 100504518, updated on 27-Dec-2024

    Summary

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    Official Symbol
    3425401B19Rikprovided by MGI
    Official Full Name
    RIKEN cDNA 3425401B19 geneprovided by MGI
    Primary source
    MGI:MGI:3588196
    See related
    Ensembl:ENSMUSG00000071540 AllianceGenome:MGI:3588196
    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
    Cefip
    Summary
    Involved in positive regulation of calcineurin-NFAT signaling cascade. Located in Z disc. Is expressed in several structures, including aorta; gut; heart; lung; and spleen. Used to study dilated cardiomyopathy. Orthologous to human C10orf71 (chromosome 10 open reading frame 71). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in heart adult (RPKM 8.1), mammary gland adult (RPKM 1.8) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See 3425401B19Rik in Genome Data Viewer
    Location:
    14 B; 14 19.4 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (32381075..32429787, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (32659118..32707825, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene excision repair cross-complementing rodent repair deficiency, complementation group 6 Neighboring gene dorsal root ganglia homeobox Neighboring gene predicted gene 28651 Neighboring gene STARR-seq mESC enhancer starr_36346 Neighboring gene predicted gene, 53842 Neighboring gene predicted gene, 36611

    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. The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling. Dierck F, et al. J Biol Chem, 2017 Sep 15. PMID 28717008, Free PMC Article
    2. Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. Li Y, et al. J Clin Invest, 2024 Jun 17. PMID 38950288, Free PMC Article
    3. USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities. Liu C, et al. Sci Adv, 2023 May 19. PMID 37196079, Free PMC Article
    4. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of calcineurin-NFAT signaling cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of calcineurin-NFAT signaling cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of calcineurin-NFAT signaling cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cardiac-enriched FHL2-interacting protein
    Names
    cardiac enriched FHL2-interacting protein
    uncharacterized protein C10orf71 homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001195097.2 → NP_001182026.1  cardiac-enriched FHL2-interacting protein

      See identical proteins and their annotated locations for NP_001182026.1

      Status: VALIDATED

      Source sequence(s)
      CT009541
      Consensus CDS
      CCDS49437.1
      UniProtKB/Swiss-Prot
      D3Z1D3
      Related
      ENSMUSP00000093741.4, ENSMUST00000096038.4
      Conserved Domains (2) summary
      PHA03378
      Location:1042 → 1385
      PHA03378; EBNA-3B; Provisional
      pfam15232
      Location:1253 → 1322
      DUF4585; Domain of unknown function (DUF4585)

    2. NM_001419649.1 → NP_001406578.1  cardiac-enriched FHL2-interacting protein

      Status: VALIDATED

      Source sequence(s)
      CT009541
      UniProtKB/Swiss-Prot
      D3Z1D3

    3. NM_001419650.1 → NP_001406579.1  cardiac-enriched FHL2-interacting protein

      Status: VALIDATED

      Source sequence(s)
      CT009541
      UniProtKB/Swiss-Prot
      D3Z1D3

    4. NM_001419651.1 → NP_001406580.1  cardiac-enriched FHL2-interacting protein

      Status: VALIDATED

      Source sequence(s)
      CT009541
      UniProtKB/Swiss-Prot
      D3Z1D3

    5. NM_001419652.1 → NP_001406581.1  cardiac-enriched FHL2-interacting protein

      Status: VALIDATED

      Source sequence(s)
      CT009541
      UniProtKB/Swiss-Prot
      D3Z1D3

    6. NM_001419653.1 → NP_001406582.1  cardiac-enriched FHL2-interacting protein

      Status: VALIDATED

      Source sequence(s)
      CT009541
      UniProtKB/Swiss-Prot
      D3Z1D3

    7. NM_001419654.1 → NP_001406583.1  cardiac-enriched FHL2-interacting protein

      Status: VALIDATED

      Source sequence(s)
      CT009541
      UniProtKB/Swiss-Prot
      D3Z1D3

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      32381075..32429787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158329.1 → XP_036014222.1  cardiac-enriched FHL2-interacting protein isoform X1

      UniProtKB/Swiss-Prot
      D3Z1D3
      Conserved Domains (2) summary
      PHA03378
      Location:1042 → 1385
      PHA03378; EBNA-3B; Provisional
      pfam15232
      Location:1253 → 1322
      DUF4585; Domain of unknown function (DUF4585)

    2. XM_006518315.5 → XP_006518378.1  cardiac-enriched FHL2-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_006518378.1

      UniProtKB/Swiss-Prot
      D3Z1D3
      Conserved Domains (2) summary
      PHA03378
      Location:1042 → 1385
      PHA03378; EBNA-3B; Provisional
      pfam15232
      Location:1253 → 1322
      DUF4585; Domain of unknown function (DUF4585)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D3Z1D3.1 GenPept UniProtKB/Swiss-Prot:D3Z1D3

    Gene LinkOut

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