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    RPS26 ribosomal protein S26 [ Homo sapiens (human) ]

    Gene ID: 6231, updated on 4-Feb-2024

    Summary

    Official Symbol
    RPS26provided by HGNC
    Official Full Name
    ribosomal protein S26provided by HGNC
    Primary source
    HGNC:HGNC:10414
    See related
    Ensembl:ENSG00000197728 MIM:603701; AllianceGenome:HGNC:10414
    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
    S26; eS26; DBA10
    Summary
    This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in ovary (RPKM 419.1), adrenal (RPKM 280.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RPS26 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56041918..56044697)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56008421..56011764)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56435702..56438481)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56390834-56391334 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:56394413-56394603 Neighboring gene Sharpr-MPRA regulatory region 2650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56399919-56400540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4542 Neighboring gene sulfite oxidase Neighboring gene uncharacterized LOC105369781 Neighboring gene IKAROS family zinc finger 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56435423-56436212 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56439805-56440398 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56473606-56474596 Neighboring gene erb-b2 receptor tyrosine kinase 3 Neighboring gene uncharacterized LOC105369782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6469

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Diamond-Blackfan anemia 10
    MedGen: C2750080 OMIM: 613309 GeneReviews: Diamond-Blackfan Anemia
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-10-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-10-23)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
    EBI GWAS Catalog
    Genome-wide association analysis identifies three psoriasis susceptibility loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104292

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    small ribosomal subunit protein eS26
    Names
    40S ribosomal protein S26

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_023201.1 RefSeqGene

      Range
      5017..7796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1146

    mRNA and Protein(s)

    1. NM_001029.5NP_001020.2  small ribosomal subunit protein eS26

      See identical proteins and their annotated locations for NP_001020.2

      Status: REVIEWED

      Source sequence(s)
      AC034102, AV681946, BC002604, CF129685
      Consensus CDS
      CCDS31832.1
      UniProtKB/Swiss-Prot
      P02383, P62854, P70394, Q06722, Q3MHD8, Q6IRY4
      UniProtKB/TrEMBL
      Q75MH1
      Related
      ENSP00000496643.1, ENST00000646449.2
      Conserved Domains (1) summary
      pfam01283
      Location:1101
      Ribosomal_S26e; Ribosomal protein S26e

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56041918..56044697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56008421..56011764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372836.1XP_054228811.1  small ribosomal subunit protein eS26 isoform X1

      UniProtKB/Swiss-Prot
      P02383, P62854, P70394, Q06722, Q3MHD8, Q6IRY4
      UniProtKB/TrEMBL
      Q75MH1