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PRR18 proline rich 18 [ Homo sapiens (human) ]

Gene ID: 285800, updated on 5-Mar-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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Location:
6q27
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (166305300..166308392, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (167682227..167685319, complement)
105.20220307 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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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
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)

Genotypes

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_2023_10

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.

Chemical Information
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