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    PRR12 proline rich 12 [ Homo sapiens (human) ]

    Gene ID: 57479, updated on 27-Nov-2024

    Summary

    Official Symbol
    PRR12provided by HGNC
    Official Full Name
    proline rich 12provided by HGNC
    Primary source
    HGNC:HGNC:29217
    See related
    Ensembl:ENSG00000126464 MIM:616633; AllianceGenome:HGNC:29217
    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
    NOC; KIAA1205
    Summary
    This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in spleen (RPKM 6.1), fat (RPKM 4.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See PRR12 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49591182..49626439)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52591210..52626472)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50094439..50129696)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50059309-50060090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14948 Neighboring gene nitric oxide synthase interacting protein Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50070496-50070674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50087865-50088490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10922 Neighboring gene proline rich and Gla domain 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10923 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50095111-50095610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50135833-50136332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50139452-50140018 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50143247-50143916 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50143917-50144586 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50144587-50145256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10927 Neighboring gene RAS related Neighboring gene SR-related CTD associated factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50158945-50159720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50161341-50162044

    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

    Phenotypes

    Associated conditions

    Description Tests
    Neuroocular syndrome
    MedGen: C5551362 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-11-29)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-11-29)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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_051202.1 RefSeqGene

      Range
      5006..40263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020719.3NP_065770.1  proline-rich protein 12

      Status: REVIEWED

      Source sequence(s)
      AB033031, AC010619, AC011495, BF805116, BF933932, BM684867, BM723432
      Consensus CDS
      CCDS46143.1
      UniProtKB/Swiss-Prot
      E9PB06, Q8N4J6, Q9ULL5
      Related
      ENSP00000394510.1, ENST00000418929.7
      Conserved Domains (1) summary
      pfam13926
      Location:18401945
      DUF4211; Domain of unknown function (DUF4211)

    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
      49591182..49626439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52591210..52626472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)