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

Gene ID: 100504518, updated on 2-Nov-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. Orthologous to human C10orf71 (chromosome 10 open reading frame 71). [provided by Alliance of Genome Resources, Nov 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 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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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

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