Aliases for PRRG4 Gene

Aliases for PRRG4 Gene

  • Proline Rich And Gla Domain 4 2 3 5
  • Proline Rich Gla (G-Carboxyglutamic Acid) 4 (Transmembrane) 2 3
  • Transmembrane Gamma-Carboxyglutamic Acid Protein 4 3 4
  • Proline-Rich Gamma-Carboxyglutamic Acid Protein 4 3 4
  • Proline-Rich Gla Protein 4 3 4
  • PRGP4 3 4
  • TMG4 3 4
  • Proline Rich Gla 4 (Transmembrane) Isoform 1 3
  • Proline Rich Gla 4 (Transmembrane) Isoform 2 3
  • Proline Rich Gla 4 (Transmembrane) Isoform 3 3

External Ids for PRRG4 Gene

Previous GeneCards Identifiers for PRRG4 Gene

  • GC11P032808
  • GC11P032545

Summaries for PRRG4 Gene

GeneCards Summary for PRRG4 Gene

PRRG4 (Proline Rich And Gla Domain 4) is a Protein Coding gene. Diseases associated with PRRG4 include Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome and Aniridia 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PRRG1.

UniProtKB/Swiss-Prot Summary for PRRG4 Gene

  • May control axon guidance across the CNS (PubMed:28859078). Prevents the delivery of ROBO1 at the cell surface and downregulates its expression (PubMed:28859078).

Additional gene information for PRRG4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRRG4 Gene

Genomics for PRRG4 Gene

GeneHancer (GH) Regulatory Elements for PRRG4 Gene

Promoters and enhancers for PRRG4 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
GH11J032828 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 500.7 +0.3 263 2.5 SIN3A MYC PHF8 ZFX ZIC2 POLR2A ZBTB10 ZBTB26 RFX1 CUX1 PRRG4 lnc-QSER1-1
GH11J032831 Enhancer 0.3 Ensembl 500.7 +1.9 1927 0.2 EZH2 SP1 PRRG4 lnc-QSER1-1
GH11J032809 Enhancer 0.8 Ensembl ENCODE 12.8 -20.4 -20353 0.5 CTCF REST RAD21 TRIM22 SMC3 DEK ZBTB17 YY1 SPI1 NR2F2 PRRG4 lnc-PRRG4-2 lnc-PRRG4-3
GH11J032851 Enhancer 0.5 ENCODE 12.3 +22.6 22603 1 RBM25 CEBPB TCF7L2 BHLHE40 ZMYM3 FOS MYC STAT3 lnc-QSER1-1 PRRG4 QSER1 TCP11L1 CCDC73
GH11J032850 Enhancer 0.4 Ensembl 6.1 +18.6 18627 5.2 SPI1 ZNF146 ZNF316 PKNOX1 TCP11L1 CCDC73 PRRG4 QSER1 lnc-QSER1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRRG4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRRG4

Top Transcription factor binding sites by QIAGEN in the PRRG4 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • GATA-1
  • GATA-2
  • GATA-3
  • POU3F1

Genomic Locations for PRRG4 Gene

Genomic Locations for PRRG4 Gene
chr11:32,829,774-32,858,123
(GRCh38/hg38)
Size:
28,350 bases
Orientation:
Plus strand
chr11:32,851,481-32,879,669
(GRCh37/hg19)
Size:
28,189 bases
Orientation:
Plus strand

Genomic View for PRRG4 Gene

Genes around PRRG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRRG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRRG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRRG4 Gene

Proteins for PRRG4 Gene

  • Protein details for PRRG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZD6-TMG4_HUMAN
    Recommended name:
    Transmembrane gamma-carboxyglutamic acid protein 4
    Protein Accession:
    Q9BZD6

    Protein attributes for PRRG4 Gene

    Size:
    226 amino acids
    Molecular mass:
    25403 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRRG4 Gene

Post-translational modifications for PRRG4 Gene

  • Gla residues are produced after subsequent post-translational modifications of glutamate by a vitamin K-dependent gamma-carboxylase.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRRG4 Gene

No data available for DME Specific Peptides for PRRG4 Gene

Domains & Families for PRRG4 Gene

Gene Families for PRRG4 Gene

Protein Domains for PRRG4 Gene

Blocks:
  • Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
  • Coagulation factor GLA domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRRG4 Gene

GenScript: Design optimal peptide antigens:
  • Proline-rich gamma-carboxyglutamic acid protein 4 (TMG4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZD6

UniProtKB/Swiss-Prot:

TMG4_HUMAN :
  • Belongs to the commissureless family.
Family:
  • Belongs to the commissureless family.
genes like me logo Genes that share domains with PRRG4: view

Function for PRRG4 Gene

Molecular function for PRRG4 Gene

UniProtKB/Swiss-Prot Function:
May control axon guidance across the CNS (PubMed:28859078). Prevents the delivery of ROBO1 at the cell surface and downregulates its expression (PubMed:28859078).

Phenotypes From GWAS Catalog for PRRG4 Gene

Gene Ontology (GO) - Molecular Function for PRRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PRRG4: view
genes like me logo Genes that share phenotypes with PRRG4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PRRG4

CRISPR Products

miRNA for PRRG4 Gene

miRTarBase miRNAs that target PRRG4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRRG4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRRG4 Gene

Localization for PRRG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRRG4 Gene

Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass membrane protein.

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 PRRG4 gene
Compartment Confidence
extracellular 3
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 11171957
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA --
genes like me logo Genes that share ontologies with PRRG4: view

Pathways & Interactions for PRRG4 Gene

PathCards logo

SuperPathways for PRRG4 Gene

No Data Available

Interacting Proteins for PRRG4 Gene

;

Gene Ontology (GO) - Biological Process for PRRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PRRG4: view

No data available for Pathways by source and SIGNOR curated interactions for PRRG4 Gene

Drugs & Compounds for PRRG4 Gene

No Compound Related Data Available

Transcripts for PRRG4 Gene

mRNA/cDNA for PRRG4 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRRG4

Alternative Splicing Database (ASD) splice patterns (SP) for PRRG4 Gene

No ASD Table

Relevant External Links for PRRG4 Gene

GeneLoc Exon Structure for
PRRG4

Expression for PRRG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRRG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRRG4 Gene

This gene is overexpressed in Esophagus - Mucosa (x7.4) and Nerve - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for PRRG4 Gene

This gene is overexpressed in Prostate (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRRG4 Gene



Protein tissue co-expression partners for PRRG4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRRG4

SOURCE GeneReport for Unigene cluster for PRRG4 Gene:

Hs.471695

mRNA Expression by UniProt/SwissProt for PRRG4 Gene:

Q9BZD6-TMG4_HUMAN
Tissue specificity: Expressed in lung, liver, kidney, pancreas and placenta.

Evidence on tissue expression from TISSUES for PRRG4 Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with PRRG4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PRRG4 Gene

Orthologs for PRRG4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRRG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRRG4 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRRG4 31 30
  • 88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRRG4 31 30
  • 87.91 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prrg4 30
  • 80.74 (n)
mouse
(Mus musculus)
Mammalia Prrg4 17 31 30
  • 80.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRRG4 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRRG4 31 30
  • 61.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRRG4 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486092 30
  • 57.09 (n)
zebrafish
(Danio rerio)
Actinopterygii prrg4 31 30
  • 56.63 (n)
OneToOne
Species where no ortholog for PRRG4 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 PRRG4 Gene

ENSEMBL:
Gene Tree for PRRG4 (if available)
TreeFam:
Gene Tree for PRRG4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRRG4: view image

Paralogs for PRRG4 Gene

Paralogs for PRRG4 Gene

(1) SIMAP similar genes for PRRG4 Gene using alignment to 1 proteins:

  • TMG4_HUMAN
genes like me logo Genes that share paralogs with PRRG4: view

Variants for PRRG4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRRG4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs33962176 - p.Glu33Lys
rs34139105 - p.Pro176Gln
rs34736080 - p.Cys143Arg

Additional dbSNP identifiers (rs#s) for PRRG4 Gene

Structural Variations from Database of Genomic Variants (DGV) for PRRG4 Gene

Variant ID Type Subtype PubMed ID
esv2659576 CNV deletion 23128226
esv2759815 CNV gain 17122850
esv34742 CNV gain 17911159
esv3547553 CNV deletion 23714750
esv3547554 CNV deletion 23714750
esv3625867 CNV loss 21293372
nsv825818 CNV loss 20364138

Variation tolerance for PRRG4 Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.40; 71.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRRG4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRRG4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRG4 Gene

Disorders for PRRG4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PRRG4 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search PRRG4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PRRG4

genes like me logo Genes that share disorders with PRRG4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRRG4 Gene

Publications for PRRG4 Gene

  1. Identification of two novel transmembrane gamma-carboxyglutamic acid proteins expressed broadly in fetal and adult tissues. (PMID: 11171957) Kulman JD … Davie EW (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 23 54
  2. The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene. (PMID: 28859078) Justice ED … Kidd T (PLoS genetics 2017) 3 4 54
  3. Genomewide association study for onset age in Parkinson disease. (PMID: 19772629) Latourelle JC … GenePD Investigators, Coordinators and Molecular Genetic Laboratories (BMC medical genetics 2009) 3 41 54
  4. 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 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for PRRG4 Gene

Sources for PRRG4 Gene