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YPEL2 yippee like 2 [ Homo sapiens (human) ]

Gene ID: 388403, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 5.3), bone marrow (RPKM 5.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q22
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59331655..59401729)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60199794..60269870)
105.20220307 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: 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. 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)

Genotypes

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_2023_10

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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