Aliases for YJU2 Gene

Aliases for YJU2 Gene

  • YJU2 Splicing Factor Homolog 2 3 5
  • Coiled-Coil Domain-Containing Protein 94 3 4
  • Coiled-Coil Domain Containing 94 2 3
  • Splicing Factor YJU2 3 4
  • CCDC94 3 4
  • FLJ10374 2
  • YJU2 5

External Ids for YJU2 Gene

Previous HGNC Symbols for YJU2 Gene

  • CCDC94

Previous GeneCards Identifiers for YJU2 Gene

  • GC19P004248

Summaries for YJU2 Gene

GeneCards Summary for YJU2 Gene

YJU2 (YJU2 Splicing Factor Homolog) is a Protein Coding gene. Diseases associated with YJU2 include Ceroid Lipofuscinosis, Neuronal, 6. An important paralog of this gene is CCDC130.

UniProtKB/Swiss-Prot Summary for YJU2 Gene

  • Part of the spliceosome which catalyzes two sequential transesterification reactions, first the excision of the non-coding intron from pre-mRNA and then the ligation of the coding exons to form the mature mRNA (PubMed:29301961). Plays a role in stabilizing the structure of the spliceosome catalytic core and docking of the branch helix into the active site, producing 5'-exon and lariat intron-3'-intermediates (By similarity). May protect cells from TP53-dependent apoptosis upon dsDNA break damage through association with PRP19-CD5L complex (PubMed:22952453).

Additional gene information for YJU2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for YJU2 Gene

Genomics for YJU2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for YJU2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around YJU2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for YJU2

Genomic Locations for YJU2 Gene

Genomic Locations for YJU2 Gene
chr19:4,247,080-4,269,088
(GRCh38/hg38)
Size:
22,009 bases
Orientation:
Plus strand
chr19:4,247,076-4,269,087
(GRCh37/hg19)
Size:
22,012 bases
Orientation:
Plus strand

Genomic View for YJU2 Gene

Genes around YJU2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
YJU2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for YJU2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YJU2 Gene

Proteins for YJU2 Gene

  • Protein details for YJU2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW85-YJU2_HUMAN
    Recommended name:
    Splicing factor YJU2
    Protein Accession:
    Q9BW85
    Secondary Accessions:
    • O75270
    • Q9H862
    • Q9NW16

    Protein attributes for YJU2 Gene

    Size:
    323 amino acids
    Molecular mass:
    37086 Da
    Quaternary structure:
    • Component of the spliceosome (PubMed:29301961). Present in the activated B complex, the catalytically activated B* complex which catalyzes the branching, the catalytic step 1 C complex catalyzing the exon ligation, and the postcatalytic P complex containing the ligated exons (mRNA) and the excised lariat intron (By similarity). Identified in the spliceosome C complex; in the complex interacts directly with PRP16 (PubMed:29301961).
    SequenceCaution:
    • Sequence=AAC72949.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for YJU2 Gene

neXtProt entry for YJU2 Gene

Post-translational modifications for YJU2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for YJU2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for YJU2 Gene

Domains & Families for YJU2 Gene

Gene Families for YJU2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for YJU2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for YJU2 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 94 (CCD94_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BW85

UniProtKB/Swiss-Prot:

YJU2_HUMAN :
  • Belongs to the CWC16 family. YJU2 subfamily.
Family:
  • Belongs to the CWC16 family. YJU2 subfamily.
genes like me logo Genes that share domains with YJU2: view

Function for YJU2 Gene

Molecular function for YJU2 Gene

UniProtKB/Swiss-Prot Function:
Part of the spliceosome which catalyzes two sequential transesterification reactions, first the excision of the non-coding intron from pre-mRNA and then the ligation of the coding exons to form the mature mRNA (PubMed:29301961). Plays a role in stabilizing the structure of the spliceosome catalytic core and docking of the branch helix into the active site, producing 5'-exon and lariat intron-3'-intermediates (By similarity). May protect cells from TP53-dependent apoptosis upon dsDNA break damage through association with PRP19-CD5L complex (PubMed:22952453).

Phenotypes From GWAS Catalog for YJU2 Gene

Gene Ontology (GO) - Molecular Function for YJU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with YJU2: view
genes like me logo Genes that share phenotypes with YJU2: view

Animal Models for YJU2 Gene

MGI Knock Outs for YJU2:
  • Yju2 Yju2<tm1b(KOMP)Wtsi>

miRNA for YJU2 Gene

miRTarBase miRNAs that target YJU2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for YJU2 Gene

Localization for YJU2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for YJU2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for YJU2 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for YJU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005681 spliceosomal complex IEA --
GO:0071006 U2-type catalytic step 1 spliceosome IDA 29301961
genes like me logo Genes that share ontologies with YJU2: view

Pathways & Interactions for YJU2 Gene

PathCards logo

SuperPathways for YJU2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for YJU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA,IBA 21873635
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator ISS --
genes like me logo Genes that share ontologies with YJU2: view

No data available for Pathways by source and SIGNOR curated interactions for YJU2 Gene

Drugs & Compounds for YJU2 Gene

No Compound Related Data Available

Transcripts for YJU2 Gene

mRNA/cDNA for YJU2 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for YJU2 Gene

No ASD Table

Relevant External Links for YJU2 Gene

GeneLoc Exon Structure for
YJU2

Expression for YJU2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for YJU2

Evidence on tissue expression from TISSUES for YJU2 Gene

  • Nervous system(4.7)
  • Lung(4.2)
  • Liver(4.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for YJU2 Gene

Orthologs for YJU2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for YJU2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC94 30 31
  • 92.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC94 30 31
  • 85.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC94 30 31
  • 83.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccdc94 30 31
  • 82.38 (n)
OneToOne
Yju2 17
Rat
(Rattus norvegicus)
Mammalia Ccdc94 30
  • 81.58 (n)
Oppossum
(Monodelphis domestica)
Mammalia CCDC94 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC94 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC94 30 31
  • 75.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC94 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc94 30
  • 65.21 (n)
Str.3695 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24272 30
Zebrafish
(Danio rerio)
Actinopterygii ccdc94 30 31
  • 68.35 (n)
OneToOne
zgc55914 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3443 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG8435 30 31
  • 70.64 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012306 30
  • 59.83 (n)
Worm
(Caenorhabditis elegans)
Secernentea F37C12.1 30 31
  • 47.45 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YJU2 31
  • 26 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9263 30
Barley
(Hordeum vulgare)
Liliopsida Hv.2576 30
Rice
(Oryza sativa)
Liliopsida Os.24549 30
Wheat
(Triticum aestivum)
Liliopsida Ta.14364 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2229 31
  • 50 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6066 30
Species where no ortholog for YJU2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for YJU2 Gene

ENSEMBL:
Gene Tree for YJU2 (if available)
TreeFam:
Gene Tree for YJU2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for YJU2: view image

Paralogs for YJU2 Gene

Paralogs for YJU2 Gene

genes like me logo Genes that share paralogs with YJU2: view

Variants for YJU2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for YJU2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
785913 Benign: not provided 4,262,039(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for YJU2 Gene

Structural Variations from Database of Genomic Variants (DGV) for YJU2 Gene

Variant ID Type Subtype PubMed ID
esv2718000 CNV deletion 23290073
esv2718001 CNV deletion 23290073
esv2718002 CNV deletion 23290073
esv28436 CNV loss 19812545
nsv578442 CNV loss 21841781
nsv833716 CNV loss 17160897
nsv833717 CNV loss 17160897
nsv833718 CNV loss 17160897

Variation tolerance for YJU2 Gene

Residual Variation Intolerance Score: 29.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for YJU2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
YJU2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for YJU2 Gene

Disorders for YJU2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for YJU2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 6
  • jansky-bielschowsky disease
- elite association - COSMIC cancer census association via MalaCards
Search YJU2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with YJU2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for YJU2 Gene

Publications for YJU2 Gene

  1. Ccdc94 protects cells from ionizing radiation by inhibiting the expression of p53. (PMID: 22952453) Sorrells S … Jette C (PLoS genetics 2012) 2 3 4
  2. Structure of a human catalytic step I spliceosome. (PMID: 29301961) Zhan X … Shi Y (Science (New York, N.Y.) 2018) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for YJU2 Gene

Sources for YJU2 Gene