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    YJU2 YJU2 splicing factor homolog [ Homo sapiens (human) ]

    Gene ID: 55702, updated on 27-Nov-2024

    Summary

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    Official Symbol
    YJU2provided by HGNC
    Official Full Name
    YJU2 splicing factor homologprovided by HGNC
    Primary source
    HGNC:HGNC:25518
    See related
    Ensembl:ENSG00000105248 AllianceGenome:HGNC:25518
    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
    CCDC94
    Summary
    Predicted to enable metal ion binding activity. Predicted to be involved in RNA splicing and negative regulation of DNA damage response, signal transduction by p53 class mediator. Part of U2-type catalytic step 1 spliceosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.6), ovary (RPKM 8.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See YJU2 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4247080..4269088)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4229720..4252363)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4247077..4269085)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13761 Neighboring gene ankyrin repeat domain 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4199326-4199972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4199973-4200619 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:4204935-4205148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4216177-4216676 Neighboring gene MPRA-validated peak3273 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13762 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:4230793-4231294 Neighboring gene MPRA-validated peak3276 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13763 Neighboring gene Epstein-Barr virus induced 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13764 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:4246137-4246908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9883 Neighboring gene Src homology 2 domain containing transforming protein D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4301847-4302392 Neighboring gene transmembrane and immunoglobulin domain containing 2

    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. Human Pso4 is a metnase (SETMAR)-binding partner that regulates metnase function in DNA repair. Beck BD, et al. J Biol Chem, 2008 Apr 4. PMID 18263876, Free PMC Article
    2. Ccdc94 protects cells from ionizing radiation by inhibiting the expression of p53. Sorrells S, et al. PLoS Genet, 2012. PMID 22952453, Free PMC Article
    3. Structure of a human catalytic step I spliceosome. Zhan X, et al. Science, 2018 Feb 2. PMID 29301961
    4. Cancer-associated FBXW7 loss is synthetic lethal with pharmacological targeting of CDC7. Baxter JS, et al. Mol Oncol, 2024 Feb. PMID 37866880, Free PMC Article
    5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    Clone Names

    • FLJ10374

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in generation of catalytic spliceosome for first transesterification step IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of U2-type catalytic step 1 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type catalytic step 1 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    splicing factor YJU2
    Names
    coiled-coil domain containing 94
    coiled-coil domain-containing protein 94

    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_018074.6 → NP_060544.2  splicing factor YJU2

      Status: VALIDATED

      Source sequence(s)
      AC005578, AC008616, AK001236
      Consensus CDS
      CCDS12124.1
      UniProtKB/Swiss-Prot
      O75270, Q9BW85, Q9H862, Q9NW16
      Related
      ENSP00000262962.6, ENST00000262962.12
      Conserved Domains (1) summary
      pfam04502
      Location:9 → 318
      DUF572; Family of unknown function (DUF572)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      4247080..4269088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      4229720..4252363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321411.1 → XP_054177386.1  splicing factor YJU2 isoform X1

      UniProtKB/Swiss-Prot
      O75270, Q9BW85, Q9H862, Q9NW16
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BW85.1 GenPept UniProtKB/Swiss-Prot:Q9BW85

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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