U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PRR12 proline rich 12 [ Homo sapiens (human) ]

Gene ID: 57479, updated on 4-Dec-2022

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PRR12 in Genome Data Viewer
Location:
19q13.33
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49591182..49626439)
110 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 nitric oxide synthase interacting protein Neighboring gene proline rich and Gla domain 2 Neighboring gene RAS related Neighboring gene SR-related CTD associated factor 1

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
Compare labs

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

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
    Q8N4J6, Q9ULL5
    Related
    ENSP00000394510.1, ENST00000418929.7
    Conserved Domains (1) summary
    pfam13926
    Location:18401945
    DUF4211; Domain of unknown function (DUF4211)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)