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Aliases for PRR12 Gene

Aliases for PRR12 Gene

  • Proline Rich 12 2 3 5
  • KIAA1205 2 3 4
  • Proline-Rich Protein 12 3 4

External Ids for PRR12 Gene

Previous HGNC Symbols for PRR12 Gene

  • KIAA1205

Previous GeneCards Identifiers for PRR12 Gene

  • GC19P054787
  • GC19P054788
  • GC19P050094
  • GC19P046472

Summaries for PRR12 Gene

Entrez Gene Summary for PRR12 Gene

  • 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]

GeneCards Summary for PRR12 Gene

PRR12 (Proline Rich 12) is a Protein Coding gene. Diseases associated with PRR12 include Aland Island Eye Disease and Coloboma Of Iris. An important paralog of this gene is QSER1.

Additional gene information for PRR12 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRR12 Gene

Genomics for PRR12 Gene

GeneHancer (GH) Regulatory Elements for PRR12 Gene

Promoters and enhancers for PRR12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J049589 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 663.1 +0.9 861 5.8 SP1 CC2D1A ELF3 ZFX ZNF148 NKRF POLR2A GTF2F1 ZNF384 ZNF687 PRR12 NOSIP PIR34329 NUP62 POLD1 ENSG00000268047 IRF3 ZNF473 PNKP PTOV1-AS2
GH19J048958 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 71.1 -627.2 -627153 10.2 MTA3 ZNF652 SP1 ZFX CC2D1A ELF3 SIX5 ZNF148 NKRF POLR2A FTL ENSG00000267898 GC19P048966 GC19P048967 NUP62 PRR12 PTOV1-AS2 GRWD1 PIH1D1 IRF3
GH19J048871 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 70.8 -715.4 -715430 8.2 MTA3 SP1 CC2D1A ELF3 ZKSCAN8 CBFA2T2 ZNF148 NKRF POLR2A MLLT1 GC19M048876 PPP1R15A SNRNP70 PRR12 GRWD1 PTOV1-AS2 IRF3 SNORD35A SNORD35B PIH1D1
GH19J049579 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 76.9 -10.6 -10582 3.2 SP1 ZFX ELF3 ZKSCAN8 SIX5 NKRF POLR2A CEBPG GTF2F1 CSDE1 PRRG2 NOSIP PRR12 NUP62 POLD1 SNRNP70 PTOV1-AS2 PIH1D1 ENSG00000268047 SNORD35A
GH19J048632 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 66.6 -954.6 -954595 8 HDGF CC2D1A ZFX SP1 ELF3 MNT SIX5 CBFA2T2 ZNF148 NKRF SEC1P DBP PRR12 SNRNP70 GRWD1 NOP53-AS1 PIH1D1 ENSG00000268093 SNORD35A NOP53
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRR12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRR12 gene promoter:
  • c-Myb
  • Egr-2
  • Egr-4
  • HOXA5
  • NF-kappaB
  • NF-kappaB1
  • p53
  • RelA
  • STAT5A
  • Zic3

Genomic Locations for PRR12 Gene

Genomic Locations for PRR12 Gene
chr19:49,591,182-49,626,439
(GRCh38/hg38)
Size:
35,258 bases
Orientation:
Plus strand
chr19:50,094,900-50,129,696
(GRCh37/hg19)
Size:
34,797 bases
Orientation:
Plus strand

Genomic View for PRR12 Gene

Genes around PRR12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRR12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRR12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRR12 Gene

Proteins for PRR12 Gene

  • Protein details for PRR12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULL5-PRR12_HUMAN
    Recommended name:
    Proline-rich protein 12
    Protein Accession:
    Q9ULL5
    Secondary Accessions:
    • E9PB06
    • Q8N4J6

    Protein attributes for PRR12 Gene

    Size:
    2036 amino acids
    Molecular mass:
    211044 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA86519.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for PRR12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRR12 Gene

Post-translational modifications for PRR12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRR12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRR12 Gene

Domains & Families for PRR12 Gene

Gene Families for PRR12 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PRR12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRR12 Gene

GenScript: Design optimal peptide antigens:
  • Proline-rich protein 12 (PRR12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PRR12: view

No data available for UniProtKB/Swiss-Prot for PRR12 Gene

Function for PRR12 Gene

Phenotypes From GWAS Catalog for PRR12 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRR12

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRR12 Gene

Localization for PRR12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRR12 Gene

Nucleus. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse, synaptosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRR12 gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PRR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with PRR12: view

Pathways & Interactions for PRR12 Gene

PathCards logo

SuperPathways for PRR12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRR12 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PRR12 Gene

Drugs & Compounds for PRR12 Gene

No Compound Related Data Available

Transcripts for PRR12 Gene

mRNA/cDNA for PRR12 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for PRR12 Gene

Proline rich 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRR12

Alternative Splicing Database (ASD) splice patterns (SP) for PRR12 Gene

No ASD Table

Relevant External Links for PRR12 Gene

GeneLoc Exon Structure for
PRR12
ECgene alternative splicing isoforms for
PRR12

Expression for PRR12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRR12 Gene

Protein differential expression in normal tissues from HIPED for PRR12 Gene

This gene is overexpressed in Fetal gut (21.9), CD8 Tcells (12.8), and Blymphocyte (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRR12 Gene



Protein tissue co-expression partners for PRR12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRR12 Gene:

PRR12

SOURCE GeneReport for Unigene cluster for PRR12 Gene:

Hs.590971

Evidence on tissue expression from TISSUES for PRR12 Gene

  • Nervous system(4.3)
  • Liver(4.1)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with PRR12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRR12 Gene

Orthologs for PRR12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRR12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRR12 35 34
  • 98.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRR12 35 34
  • 89.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRR12 35 34
  • 89.12 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prr12 17 35 34
  • 85.43 (n)
rat
(Rattus norvegicus)
Mammalia Prr12 34
  • 84.78 (n)
oppossum
(Monodelphis domestica)
Mammalia PRR12 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRR12 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prr12 34
  • 59.78 (n)
zebrafish
(Danio rerio)
Actinopterygii prr12b 35
  • 33 (a)
OneToOne
wufj88e10 34
Species where no ortholog for PRR12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRR12 Gene

ENSEMBL:
Gene Tree for PRR12 (if available)
TreeFam:
Gene Tree for PRR12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRR12: view image

Paralogs for PRR12 Gene

Paralogs for PRR12 Gene

Pseudogenes.org Pseudogenes for PRR12 Gene

genes like me logo Genes that share paralogs with PRR12: view

Variants for PRR12 Gene

Sequence variations from dbSNP and Humsavar for PRR12 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1555740394 pathogenic, Abnormality of vision, Autistic disorder of childhood onset, Delayed speech and language development, Iris coloboma, Motor delay 49,595,235(+) CCCACCACCC/CCCACCACCCACCACCC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1555740650 pathogenic, Abnormality of vision, Autistic disorder of childhood onset, Delayed speech and language development, Iris coloboma, Motor delay 49,596,253(+) G/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1555741826 pathogenic, Abnormality of vision, Autistic disorder of childhood onset, Delayed speech and language development, Iris coloboma, Motor delay 49,601,646(+) CTGCC/C coding_sequence_variant, frameshift, non_coding_transcript_variant
rs863223365 benign, Abnormality of neuronal migration 49,601,543(+) /CCCTCA coding_sequence_variant, inframe_insertion, non_coding_transcript_variant
rs1000012404 -- 49,592,411(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PRR12 Gene

Variant ID Type Subtype PubMed ID
esv21818 CNV gain 19812545
nsv1071938 CNV deletion 25765185
nsv1072360 CNV deletion 25765185
nsv1118832 CNV deletion 24896259
nsv1136288 CNV deletion 24896259
nsv1138718 CNV deletion 24896259
nsv1160655 CNV deletion 26073780
nsv469715 CNV gain+loss 16826518
nsv470150 CNV gain 18288195
nsv817854 CNV gain 17921354
nsv828578 CNV loss 20364138
nsv833863 CNV loss 17160897
nsv833864 CNV gain 17160897
nsv833865 CNV gain+loss 17160897
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for PRR12 Gene

Residual Variation Intolerance Score: 1.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRR12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRR12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRR12 Gene

Disorders for PRR12 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PRR12 Gene - From: ClinVar and DISEASES

Disorder Aliases PubMed IDs
aland island eye disease
  • aied
coloboma of iris
  • iris coloboma
autism
  • autistic disorder
coloboma of macula
  • agenesis of macula
- elite association - COSMIC cancer census association via MalaCards
Search PRR12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PRR12

genes like me logo Genes that share disorders with PRR12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRR12 Gene

Publications for PRR12 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 58
  5. De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. (PMID: 29556724) Leduc MS … Bi W (Human genetics 2018) 3 58

Products for PRR12 Gene

Sources for PRR12 Gene

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