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    YPEL2 yippee like 2 [ Homo sapiens (human) ]

    Gene ID: 388403, updated on 10-Dec-2024

    Summary

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    Official Symbol
    YPEL2provided by HGNC
    Official Full Name
    yippee like 2provided by HGNC
    Primary source
    HGNC:HGNC:18326
    See related
    Ensembl:ENSG00000175155 MIM:609723; AllianceGenome:HGNC:18326
    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
    FKSG4
    Summary
    Predicted to enable metal ion binding activity. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 5.3), bone marrow (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See YPEL2 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59331655..59401729)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60199794..60269870)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57409016..57479090)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57297898-57298448 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12505 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:57367429-57368276 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 17 Neighboring gene Sharpr-MPRA regulatory region 3101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8778 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:57409512-57410073 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57443013-57443782 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:57443783-57444552 Neighboring gene Sharpr-MPRA regulatory region 10372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:57447003-57447504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:57447505-57448004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:57455401-57455900 Neighboring gene microRNA 4729 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:57473849-57475048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8780 Neighboring gene uncharacterized LOC124904040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12508 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:57520265-57520470 Neighboring gene long intergenic non-protein coding RNA 1476 Neighboring gene uncharacterized LOC105371845

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A novel role for YPEL2 in mediating endothelial cellular senescence via the p53/p21 pathway. Xu JX, et al. Mech Ageing Dev, 2023 Apr. PMID 36963468
    2. Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. de Bruijn SE, et al. Am J Hum Genet, 2020 Nov 5. PMID 33022222, Free PMC Article
    3. Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA levels in HIV-1 infection: the ANRS Genome Wide Association 01 study. Dalmasso C, et al. PLoS One, 2008. PMID 19107206, Free PMC Article
    4. Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species. Hosono K, et al. Gene, 2004 Sep 29. PMID 15556292
    5. Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome. Couch FJ, et al. Cancer Epidemiol Biomarkers Prev, 2010 Jan. PMID 20056645, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel role for YPEL2 in mediating endothelial cellular senescence via the p53/p21 pathway.
      Title: A novel role for YPEL2 in mediating endothelial cellular senescence via the p53/p21 pathway.
    2. Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
      Title: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
    3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Centrosome-related genes, genetic variation, and risk of breast cancer.
    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

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog

    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

    • DKFZp761C2021

    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 
    Component Evidence Code Pubs
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein yippee-like 2
    Names
    DiGeorge syndrome-related protein

    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_001005404.4 → NP_001005404.1  protein yippee-like 2

      See identical proteins and their annotated locations for NP_001005404.1

      Status: VALIDATED

      Source sequence(s)
      AB098736, AC091059, AI540782
      Consensus CDS
      CCDS32695.1
      UniProtKB/Swiss-Prot
      A0PK16, A2RUG4, Q65ZA0, Q8N3W2, Q96QA6
      Related
      ENSP00000312272.4, ENST00000312655.9
      Conserved Domains (1) summary
      cl13152
      Location:20 → 108
      RLR_C_like; C-terminal domain of Retinoic acid-inducible gene (RIG)-I-like Receptors, Cereblon (CRBN), and similar protein domains

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      59331655..59401729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024621.2 → XP_016880110.1  protein yippee-like 2 isoform X1

      UniProtKB/Swiss-Prot
      A0PK16, A2RUG4, Q65ZA0, Q8N3W2, Q96QA6
      Conserved Domains (1) summary
      cl13152
      Location:20 → 108
      RLR_C_like; C-terminal domain of Retinoic acid-inducible gene (RIG)-I-like Receptors, Cereblon (CRBN), and similar protein domains

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      60199794..60269870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316037.1 → XP_054172012.1  protein yippee-like 2 isoform X1

      UniProtKB/Swiss-Prot
      A0PK16, A2RUG4, Q65ZA0, Q8N3W2, Q96QA6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QA6.1 GenPept UniProtKB/Swiss-Prot:Q96QA6

    Gene LinkOut

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

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