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    PRR23D2 proline rich 23 domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 100133251, updated on 8-Nov-2023

    Summary

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    Official Symbol
    PRR23D2provided by HGNC
    Official Full Name
    proline rich 23 domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:49396
    See related
    Ensembl:ENSG00000255378 AllianceGenome:HGNC:49396
    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
    Also known as
    PRR23D1
    Expression
    Restricted expression toward testis (RPKM 1.1) See more
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    Genomic context

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    See PRR23D2 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (7778591..7784165, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (11924541..11930114, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7636113..7638935, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene family with sequence similarity 90 member A9 Neighboring gene family with sequence similarity 90 member A10 Neighboring gene proline rich 23 domain containing 3, pseudogene Neighboring gene defensin beta 107A

    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. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    General protein information

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    Preferred Names
    proline-rich protein 23D2
    Names
    Proline-rich protein 23D1
    proline-rich protein 23C-like

    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_001282478.1 → NP_001269407.1  proline-rich protein 23D2

      See identical proteins and their annotated locations for NP_001269407.1

      Status: VALIDATED

      Source sequence(s)
      AC084121, CN273434
      Consensus CDS
      CCDS64821.1
      UniProtKB/Swiss-Prot
      E9PI22, P0DMB1
      Related
      ENSP00000436580.1, ENST00000528972.1
      Conserved Domains (1) summary
      pfam10630
      Location:33 → 276
      DUF2476; Protein of unknown function (DUF2476)

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      7778591..7784165 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543811.3 → XP_011542113.1  proline-rich protein 23D2 isoform X1

      See identical proteins and their annotated locations for XP_011542113.1

      UniProtKB/Swiss-Prot
      E9PI22, P0DMB1
      Conserved Domains (1) summary
      pfam10630
      Location:33 → 276
      DUF2476; Protein of unknown function (DUF2476)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      676902..682673 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332232.1 → XP_054188207.1  proline-rich protein 23D2 isoform X1

      UniProtKB/Swiss-Prot
      E9PI22, P0DMB1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      11924541..11930114 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359525.1 → XP_054215500.1  proline-rich protein 23D2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DMB1.1 GenPept UniProtKB/Swiss-Prot:P0DMB1

    Gene LinkOut

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