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    CWF19L2 CWF19 like cell cycle control factor 2 [ Homo sapiens (human) ]

    Gene ID: 143884, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CWF19L2provided by HGNC
    Official Full Name
    CWF19 like cell cycle control factor 2provided by HGNC
    Primary source
    HGNC:HGNC:26508
    See related
    Ensembl:ENSG00000152404 AllianceGenome:HGNC:26508
    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
    Summary
    Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be part of post-mRNA release spliceosomal complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 6.7), endometrium (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CWF19L2 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (107326360..107457825, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (107333512..107464989, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (107197086..107328551, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene argininosuccinate synthetase 1 pseudogene 13 Neighboring gene uncharacterized LOC105369477 Neighboring gene uncharacterized LOC124902745 Neighboring gene NANOG hESC enhancer GRCh37_chr11:107143023-107143770 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:107232171-107233370 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:107267561-107268760 Neighboring gene SMARCE1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:107328330-107328835 Neighboring gene alkB homolog 8, tRNA methyltransferase Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:107435812-107436330 and GRCh37_chr11:107436331-107436847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5471 Neighboring gene SUCLG2 pseudogene 3

    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. Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients. Nordgard SH, et al. Genes Chromosomes Cancer, 2008 Aug. PMID 18398821
    2. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. Malik S, et al. Cell Cycle, 2016 Aug 17. PMID 27433848, Free PMC Article
    3. DNAJC17 is localized in nuclear speckles and interacts with splicing machinery components. Pascarella A, et al. Sci Rep, 2018 May 17. PMID 29773831, Free PMC Article
    4. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Hill SJ, et al. Genes Dev, 2014 Sep 1. PMID 25184681, Free PMC Article
    5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. Shimada M, et al. Hum Genet, 2010 Oct. PMID 20677014

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    • FLJ32343

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of post-mRNA release spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    CWF19-like protein 2
    Names
    CWF19 like 2, cell cycle control

    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_152434.3 → NP_689647.2  CWF19-like protein 2

      See identical proteins and their annotated locations for NP_689647.2

      Status: VALIDATED

      Source sequence(s)
      AK126881, BX648704
      Consensus CDS
      CCDS8336.2
      UniProtKB/Swiss-Prot
      A4FU66, A4FU67, A4FU68, A8KAD6, Q2TBE0, Q6PHW1, Q96MI1
      Related
      ENSP00000282251.5, ENST00000282251.10
      Conserved Domains (2) summary
      pfam04676
      Location:795 → 889
      CwfJ_C_2; Protein similar to CwfJ C-terminus 2
      cl00228
      Location:662 → 786
      HIT_like; HIT family: HIT (Histidine triad) proteins, named for a motif related to the sequence HxHxH/Qxx (x, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides. On the basis ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      107326360..107457825 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426419.1 → XP_047282375.1  CWF19-like protein 2 isoform X2

    2. XM_011542620.4 → XP_011540922.1  CWF19-like protein 2 isoform X1

    RNA

    1. XR_007062452.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      107333512..107464989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367764.1 → XP_054223739.1  CWF19-like protein 2 isoform X2

    2. XM_054367763.1 → XP_054223738.1  CWF19-like protein 2 isoform X1

    RNA

    1. XR_008488344.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TBE0.4 GenPept UniProtKB/Swiss-Prot:Q2TBE0

    Gene LinkOut

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

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