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    PRR22 proline rich 22 [ Homo sapiens (human) ]

    Gene ID: 163154, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PRR22provided by HGNC
    Official Full Name
    proline rich 22provided by HGNC
    Primary source
    HGNC:HGNC:28354
    See related
    Ensembl:ENSG00000212123 AllianceGenome:HGNC:28354
    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
    Expression
    Biased expression in testis (RPKM 10.8), skin (RPKM 1.5) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRR22 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5782960..5784746, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5769757..5771543, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5782971..5784757, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13814 Neighboring gene ribosomal protein L36 Neighboring gene lon peptidase 1, mitochondrial Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5717772-5718288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5718289-5718804 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5719838-5720354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9931 Neighboring gene cation channel sperm associated auxiliary subunit delta Neighboring gene ReSE screen-validated silencer GRCh37_chr19:5780743-5780921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13816 Neighboring gene dihydrouridine synthase 3 like Neighboring gene Sharpr-MPRA regulatory region 11822 Neighboring gene neurturin Neighboring gene Sharpr-MPRA regulatory region 2060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5827746-5828434

    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. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
    2. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • MGC24975

    General protein information

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    Preferred Names
    proline-rich protein 22

    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_001134316.2 → NP_001127788.1  proline-rich protein 22

      See identical proteins and their annotated locations for NP_001127788.1

      Status: VALIDATED

      Source sequence(s)
      BC008985, CN370733
      Consensus CDS
      CCDS45933.1
      UniProtKB/Swiss-Prot
      E9PB31, Q8IZ63
      Related
      ENSP00000407653.2, ENST00000419421.3
      Conserved Domains (1) summary
      pfam15776
      Location:63 → 422
      PRR22; Proline-rich protein family 22

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      5782960..5784746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      5769757..5771543 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153359.1: Suppressed sequence

      Description
      NM_153359.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZ63.2 GenPept UniProtKB/Swiss-Prot:Q8IZ63

    Gene LinkOut

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

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