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    PRR18 proline rich 18 [ Homo sapiens (human) ]

    Gene ID: 285800, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PRR18provided by HGNC
    Official Full Name
    proline rich 18provided by HGNC
    Primary source
    HGNC:HGNC:28574
    See related
    Ensembl:ENSG00000176381 AllianceGenome:HGNC:28574
    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
    Orthologs
    mouse all
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    Genomic context

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    See PRR18 in Genome Data Viewer
    Location:
    6q27
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (166305300..166308392, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (167682227..167685319, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (166718788..166721880, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929297 Neighboring gene uncharacterized LOC107986668 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:166671501-166672700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:166685531-166686036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:166688619-166689118 Neighboring gene uncharacterized LOC105378118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25429 Neighboring gene uncharacterized LOC107986669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:166731429-166732174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:166732175-166732919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25431 Neighboring gene SFT2 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25432 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 49 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:166755965-166756858 Neighboring gene uncharacterized LOC100289495 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:166761001-166762200

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Functionally enigmatic genes: a case study of the brain ignorome. Pandey AK, et al. PLoS One, 2014. PMID 24523945, Free PMC Article
    2. MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage. Huang JW, et al. Nat Commun, 2020 Jun 11. PMID 32528060, Free PMC Article
    3. Joint influence of small-effect genetic variants on human longevity. Yashin AI, et al. Aging (Albany NY), 2010 Sep. PMID 20834067, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Joint influence of small-effect genetic variants on human longevity.
    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)

    General gene information

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    Homology

    Clone Names

    • MGC35308

    General protein information

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    Preferred Names
    proline-rich protein 18
    Names
    proline rich region 18

    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_175922.4 → NP_787118.2  proline-rich protein 18

      See identical proteins and their annotated locations for NP_787118.2

      Status: VALIDATED

      Source sequence(s)
      AL121956, BC034775
      Consensus CDS
      CCDS5291.1
      UniProtKB/Swiss-Prot
      Q8N4B5
      Related
      ENSP00000319590.3, ENST00000322583.5
      Conserved Domains (1) summary
      pfam15671
      Location:28 → 295
      PRR18; Proline-rich protein family 18

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      166305300..166308392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      167682227..167685319 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4B5.2 GenPept UniProtKB/Swiss-Prot:Q8N4B5

    Gene LinkOut

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

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