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Aliases for PRR30 Gene

Aliases for PRR30 Gene

  • Proline Rich 30 2 3 5
  • C2orf53 3 4
  • Chromosome 2 Open Reading Frame 53 2
  • Proline-Rich Protein 30 3

External Ids for PRR30 Gene

Previous HGNC Symbols for PRR30 Gene

  • C2orf53

Summaries for PRR30 Gene

GeneCards Summary for PRR30 Gene

PRR30 (Proline Rich 30) is a Protein Coding gene.

Additional gene information for PRR30 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRR30 Gene

Genomics for PRR30 Gene

GeneHancer (GH) Regulatory Elements for PRR30 Gene

Promoters and enhancers for PRR30 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
GH02J027139 Promoter 0.5 EPDnew 650.7 +0.0 34 0.1 PRR30 PREB GC02P027132
GH02J027090 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.9 +45.5 45549 6.6 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 KHK AGBL5 ABHD1 CGREF1 SLC5A6 ATRAID CAD PRR30 TCF23 PREB
GH02J027263 Promoter 1.5 EPDnew Ensembl 10.6 -123.6 -123637 0.2 CTCF SUZ12 ZNF335 CCNT2 E2F1 ZFHX2 GLIS2 POLR2A PATZ1 EZH2 SLC30A3 UCN MPV17 CAD ATRAID SLC5A6 GTF3C2-AS1 TCF23 GTF3C2 PRR30
GH02J027169 Enhancer 1.2 Ensembl ENCODE 12.3 -31.8 -31804 2.9 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 SP5 ZHX2 MXD4 ATRAID GTF3C2 TCF23 PRR30 PREB SLC5A6 ABHD1 CAD SLC30A3 DNAJC5G
GH02J027164 Enhancer 0.6 ENCODE 12.2 -25.9 -25892 1.1 PKNOX1 ELF1 DPF2 IRF4 ZNF217 FOXK2 IKZF1 ATF7 PRDM10 IKZF2 GTF3C2 PRR30 PREB SLC5A6 ATRAID ABHD1 CGREF1 CAD KHK EMILIN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRR30 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PRR30 Gene

Genomic Locations for PRR30 Gene
chr2:27,136,847-27,139,464
(GRCh38/hg38)
Size:
2,618 bases
Orientation:
Minus strand
chr2:27,359,715-27,362,332
(GRCh37/hg19)
Size:
2,618 bases
Orientation:
Minus strand

Genomic View for PRR30 Gene

Genes around PRR30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRR30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRR30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRR30 Gene

Proteins for PRR30 Gene

  • Protein details for PRR30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53SZ7-PRR30_HUMAN
    Recommended name:
    Proline-rich protein 30
    Protein Accession:
    Q53SZ7
    Secondary Accessions:
    • Q86UE2

    Protein attributes for PRR30 Gene

    Size:
    412 amino acids
    Molecular mass:
    44690 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRR30 Gene

Post-translational modifications for PRR30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRR30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRR30 Gene

Domains & Families for PRR30 Gene

Gene Families for PRR30 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PRR30 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PRR30: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for PRR30 Gene

Function for PRR30 Gene

genes like me logo Genes that share phenotypes with PRR30: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRR30

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRR30 Gene

Localization for PRR30 Gene

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 PRR30 gene
Compartment Confidence
nucleus 2
peroxisome 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for PRR30 Gene

Pathways & Interactions for PRR30 Gene

SuperPathways for PRR30 Gene

No Data Available

Interacting Proteins for PRR30 Gene

Gene Ontology (GO) - Biological Process for PRR30 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PRR30 Gene

Drugs & Compounds for PRR30 Gene

No Compound Related Data Available

Transcripts for PRR30 Gene

mRNA/cDNA for PRR30 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRR30

Alternative Splicing Database (ASD) splice patterns (SP) for PRR30 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c
SP1: - -
SP2: - -
SP3:

Relevant External Links for PRR30 Gene

GeneLoc Exon Structure for
PRR30
ECgene alternative splicing isoforms for
PRR30

Expression for PRR30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRR30 Gene

Protein differential expression in normal tissues from HIPED for PRR30 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRR30 Gene



Protein tissue co-expression partners for PRR30 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRR30 Gene:

PRR30
genes like me logo Genes that share expression patterns with PRR30: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRR30 Gene

Orthologs for PRR30 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PRR30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf53 33
  • 96.75 (n)
C2orf53 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11H2orf53 33
  • 79.12 (n)
C2orf53 34
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100322897 33
  • 73.25 (n)
mouse
(Mus musculus)
Mammalia 1700110M21Rik 34 33
  • 69.79 (n)
OneToOne
Prr30 16
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf53 34
  • 29 (a)
OneToOne
Species where no ortholog for PRR30 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)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PRR30 Gene

ENSEMBL:
Gene Tree for PRR30 (if available)
TreeFam:
Gene Tree for PRR30 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRR30: view image

Paralogs for PRR30 Gene

No data available for Paralogs for PRR30 Gene

Variants for PRR30 Gene

Sequence variations from dbSNP and Humsavar for PRR30 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1001589852 -- 27,141,242(-) A/G upstream_transcript_variant
rs1002061733 -- 27,140,803(-) T/G upstream_transcript_variant
rs1002153219 -- 27,138,567(-) C/G 5_prime_UTR_variant
rs1002164526 -- 27,138,826(-) C/T intron_variant
rs1002998057 -- 27,139,518(-) T/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PRR30 Gene

Variant ID Type Subtype PubMed ID
dgv6744n54 CNV loss 21841781
nsv817673 CNV gain 17921354
nsv833603 CNV loss 17160897

Variation tolerance for PRR30 Gene

Residual Variation Intolerance Score: 83.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.45; 71.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRR30 Gene

Human Gene Mutation Database (HGMD)
PRR30
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRR30

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRR30 Gene

Disorders for PRR30 Gene

Additional Disease Information for PRR30

No disorders were found for PRR30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PRR30 Gene

Publications for PRR30 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3 58
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 58
  5. 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) 4 58

Products for PRR30 Gene

Sources for PRR30 Gene

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