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    RPS4Y2 ribosomal protein S4 Y-linked 2 [ Homo sapiens (human) ]

    Gene ID: 140032, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RPS4Y2provided by HGNC
    Official Full Name
    ribosomal protein S4 Y-linked 2provided by HGNC
    Primary source
    HGNC:HGNC:18501
    See related
    Ensembl:ENSG00000280969 MIM:400030; AllianceGenome:HGNC:18501
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RPS4Y2P
    Summary
    The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [provided by RefSeq, Aug 2012]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See RPS4Y2 in Genome Data Viewer
    Location:
    Yq11.223
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (20756108..20781032)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (21631330..21656255)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (22917994..22942918)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 8, member A1 pseudogene Neighboring gene transducin beta like 1 Y-linked pseudogene 1 Neighboring gene heat shock transcription factor Y-linked 4, pseudogene Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 17

    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. The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis. Lopes AM, et al. BMC Mol Biol, 2010 May 7. PMID 20459660, Free PMC Article
    2. LncPRYP4-3 serves as a novel diagnostic biomarker for dissecting subtypes of metabolic associated fatty liver disease by targeting RPS4Y2. Yang H, et al. Clin Exp Med, 2020 Nov. PMID 32494880
    3. Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction. Ye J, et al. BMC Bioinformatics, 2012 Jun 18. PMID 22708584, Free PMC Article
    4. Y Chromosome Infertility. Adam MP, et al. , 1993. PMID 20301513
    5. HectD1 controls hematopoietic stem cell regeneration by coordinating ribosome assembly and protein synthesis. Lv K, et al. Cell Stem Cell, 2021 Jul 1. PMID 33711283, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncPRYP4-3 serves as a novel diagnostic biomarker for dissecting subtypes of metabolic associated fatty liver disease by targeting RPS4Y2.
      Title: LncPRYP4-3 serves as a novel diagnostic biomarker for dissecting subtypes of metabolic associated fatty liver disease by targeting RPS4Y2.
    2. One of the Y-linked copies of the ribosomal protein S4 is expressed during spermatogenesis and germ cell development and the C-terminus of the protein has some degree of functional specialisation of this protein in spermatogenesis.
      Title: The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis.
    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

    Associated conditions

    Description Tests
    Spermatogenic failure, Y-linked, 2
    MedGen: C1839071 OMIM: 415000 GeneReviews: Y Chromosome Infertility
    		Compare labs

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables rRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of cytosolic small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein eS4, Y isoform 2
    Names
    40S ribosomal protein S4, Y
    ribosomal protein S4, Y-linked 2 pseudogene
    small ribosomal subunit protein eS4
    small ribosomal subunit protein eS4, Y

    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.

    Genomic

    1. NG_032924.1 RefSeqGene

      Range
      5041..29965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039567.3 → NP_001034656.1  small ribosomal subunit protein eS4, Y isoform 2

      See identical proteins and their annotated locations for NP_001034656.1

      Status: REVIEWED

      Source sequence(s)
      AF497481
      Consensus CDS
      CCDS44028.1
      UniProtKB/Swiss-Prot
      A6NIR6, Q8TD47
      UniProtKB/TrEMBL
      Q496E4
      Related
      ENSP00000486252.1, ENST00000629237.2
      Conserved Domains (5) summary
      PLN00036
      Location:1 → 260
      PLN00036; 40S ribosomal protein S4; Provisional
      cd06087
      Location:175 → 229
      KOW_RPS4; KOW motif of Ribosomal Protein S4 (RPS4)
      pfam00900
      Location:95 → 169
      Ribosomal_S4e; Ribosomal family S4e
      pfam08071
      Location:3 → 39
      RS4NT; RS4NT (NUC023) domain
      pfam16121
      Location:212 → 259
      40S_S4_C; 40S ribosomal protein S4 C-terminus

    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_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      20756108..20781032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      21631330..21656255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138963.1: Suppressed sequence

      Description
      NM_138963.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TD47.3 GenPept UniProtKB/Swiss-Prot:Q8TD47

    Gene LinkOut

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

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