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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

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 Intellectual Disability. An important paralog of this gene is QSER1.

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

Regulatory Elements for PRR12 Gene

Enhancers for PRR12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G048780 1.6 Ensembl ENCODE dbSUPER 48.9 -809.9 -809933 2.9 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B ZNF766 ZNF143 FOS PRR12 PIH1D1 GRWD1 SNORD35A DKKL1 KDELR1 SNORD35B CYTH2 ENSG00000268093 RPS11
GH19G049589 1.7 FANTOM5 ENCODE dbSUPER 44.6 +0.4 400 5.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 PRR12 PRRG2 ALDH16A1 BCL2L12 SNORD35B SNORD35A RPS11 PIH1D1 POLD1 RPL18
GH19G048632 1.7 Ensembl ENCODE dbSUPER 43.8 -955.2 -955167 7.8 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PRR12 ENSG00000268093 GRWD1 RPS11 SNORD35A PIH1D1 RPL18 NOP53-AS1 SNORD35B ALDH16A1
GH19G048953 1.4 ENCODE dbSUPER 51.8 -636.4 -636356 2.7 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 PRR12 PIH1D1 GRWD1 SNORD35A PTOV1-AS2 KDELR1 SNORD35B CYTH2 RPS11 NUP62
GH19G048612 1.7 Ensembl ENCODE dbSUPER 40.5 -974.9 -974881 7.8 CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC PRR12 SNORD35A KDELR1 SNORD35B ALDH16A1 GRWD1 SEC1P NOP53-AS1 RPS11 PIH1D1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRR12 on UCSC Golden Path with GeneCards custom track

Promoters for PRR12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110924 257 3401 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for PRR12 Gene

Chromosome:
19
Start:
49,591,643 bp from pter
End:
49,626,439 bp from pter
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:
    1215 amino acids
    Molecular mass:
    129991 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA86519.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

Protein Domains for PRR12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRR12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for PRR12 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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 5
plasma membrane 3
cytosol 3

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

SuperPathways for PRR12 Gene

No Data Available

Interacting Proteins for PRR12 Gene

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

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRR12 Gene

Proline rich 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Primer Products

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 34 35
  • 98.55 (n)
dog
(Canis familiaris)
Mammalia PRR12 34 35
  • 89.53 (n)
cow
(Bos Taurus)
Mammalia PRR12 34 35
  • 89.12 (n)
mouse
(Mus musculus)
Mammalia Prr12 34 16 35
  • 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)

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 Sequence Context AA Info Type
rs863223365 Benign 49,601,542(+) CCGAC(-/CCCTCA)TCCTC cds-indel
rs1000012404 -- 49,592,411(+) CGTTG(C/T)ATGGG intron-variant
rs1000082702 -- 49,590,226(+) TGTAT(A/G)TGTGG intron-variant, upstream-variant-2KB
rs1000085512 -- 49,592,643(+) CCGTC(C/T)ATATC intron-variant
rs1000167770 -- 49,606,639(+) ATACC(A/G)TCTCT 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)

Relevant External Links for PRR12 Gene

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

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

Disorders for PRR12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRR12 Gene - From: GeneCards

Disorder Aliases PubMed IDs
intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search PRR12 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PRR12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Res. 1999) 2 3 4 64
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PMID: 10737800) Dias Neto E. … Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 64
  5. The Dual Estrogen Receptor I+ Inhibitory Effects of the Tissue-Selective Estrogen Complex for Endometrial and Breast Safety. (PMID: 26487511) Han S.J. … O'Malley B.W. (Mol. Pharmacol. 2016) 3 64

Products for PRR12 Gene

Sources for PRR12 Gene

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