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PRR12 proline rich 12 [ Homo sapiens (human) ]

Gene ID: 57479, updated on 9-Dec-2023

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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49591182..49626439)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52591210..52626472)
105.20220307 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 OMIM: 619539 GeneReviews: Not available
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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)

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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.

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_2023_10

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)