Aliases for PERP Gene

Aliases for PERP Gene

  • P53 Apoptosis Effector Related To PMP22 2 3 5
  • KRTCAP1 2 3 4
  • PIGPC1 2 3 4
  • KCP1 2 3 4
  • THW 2 3 4
  • P53 Apoptosis Effector Related To PMP-22 3 4
  • Keratinocyte-Associated Protein 1 3 4
  • PERP, TP53 Apoptosis Effector 2 3
  • P53-Induced Protein PIGPC1 3 4
  • Transmembrane Protein THW 3 4
  • DJ496H19.1 2 3
  • KCP-1 3 4
  • Keratinocytes Associated Protein 1 3
  • Keratinocyte Associated Protein 1 2
  • 1110017A08Rik 3
  • PERP 5

External Ids for PERP Gene

Previous GeneCards Identifiers for PERP Gene

  • GC06M138392
  • GC06M138453
  • GC06M135971

Summaries for PERP Gene

GeneCards Summary for PERP Gene

PERP (P53 Apoptosis Effector Related To PMP22) is a Protein Coding gene. Diseases associated with PERP include Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques and Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate. Among its related pathways are Keratinization and TP53 Regulates Transcription of Cell Death Genes. An important paralog of this gene is TMEM47.

UniProtKB/Swiss-Prot Summary for PERP Gene

  • Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity).

Gene Wiki entry for PERP Gene

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

Genomics for PERP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PERP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PERP on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the PERP gene promoter:
  • Bach2
  • c-Myb
  • E47
  • Hand1
  • p53
  • POU2F1
  • POU2F1a
  • S8
  • Zic3

Genomic Locations for PERP Gene

Genomic Locations for PERP Gene
chr6:138,088,505-138,107,419
(GRCh38/hg38)
Size:
18,915 bases
Orientation:
Minus strand
chr6:138,409,642-138,428,660
(GRCh37/hg19)
Size:
19,019 bases
Orientation:
Minus strand

Genomic View for PERP Gene

Genes around PERP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PERP Gene

Proteins for PERP Gene

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

    Protein Symbol:
    Q96FX8-PERP_HUMAN
    Recommended name:
    p53 apoptosis effector related to PMP-22
    Protein Accession:
    Q96FX8
    Secondary Accessions:
    • B2RB73
    • E1P590
    • Q8IWS3
    • Q8N1J6
    • Q8NC16
    • Q9H1C5
    • Q9H230

    Protein attributes for PERP Gene

    Size:
    193 amino acids
    Molecular mass:
    21386 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PERP Gene

Post-translational modifications for PERP Gene

No Post-translational modifications

Other Protein References for PERP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PERP Gene

Domains & Families for PERP Gene

Gene Families for PERP Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PERP Gene

Suggested Antigen Peptide Sequences for PERP Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein THW (PERP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96FX8

UniProtKB/Swiss-Prot:

PERP_HUMAN :
  • Belongs to the TMEM47 family.
Family:
  • Belongs to the TMEM47 family.
genes like me logo Genes that share domains with PERP: view

Function for PERP Gene

Molecular function for PERP Gene

UniProtKB/Swiss-Prot Function:
Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity).

Phenotypes From GWAS Catalog for PERP Gene

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

Human Phenotype Ontology for PERP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PERP Gene

MGI Knock Outs for PERP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PERP Gene

Localization for PERP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PERP Gene

Cell junction, desmosome. Cell membrane. Multi-pass membrane protein. Note=Associated with desmosomes. {ECO:0000250 UniProtKB:Q9JK95}.

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 PERP gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
golgi apparatus 3
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PERP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0005911 cell-cell junction IBA 21873635
genes like me logo Genes that share ontologies with PERP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PERP Gene

Pathways & Interactions for PERP Gene

genes like me logo Genes that share pathways with PERP: view

Pathways by source for PERP Gene

1 KEGG pathway for PERP Gene
1 Qiagen pathway for PERP Gene
  • p53 Mediated Apoptosis

SIGNOR curated interactions for PERP Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for PERP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002934 desmosome organization IBA --
GO:0006915 apoptotic process IEA --
GO:0007155 cell adhesion IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0034113 heterotypic cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with PERP: view

Drugs & Compounds for PERP Gene

(3) Drugs for PERP Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3670
Epirubicin Approved Pharma 483
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2338
genes like me logo Genes that share compounds with PERP: view

Transcripts for PERP Gene

mRNA/cDNA for PERP Gene

1 REFSEQ mRNAs :
16 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 PERP

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

No ASD Table

Relevant External Links for PERP Gene

GeneLoc Exon Structure for
PERP

Expression for PERP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x12.7), Skin - Not Sun Exposed (Suprapubic) (x10.8), Esophagus - Mucosa (x8.8), and Vagina (x4.5).

Protein differential expression in normal tissues from HIPED for PERP Gene

This gene is overexpressed in Hair follicle (25.5), Esophagus (10.8), Urine (6.9), and Heart (6.9).

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



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

SOURCE GeneReport for Unigene cluster for PERP Gene:

Hs.201446

mRNA Expression by UniProt/SwissProt for PERP Gene:

Q96FX8-PERP_HUMAN
Tissue specificity: Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts.

Evidence on tissue expression from TISSUES for PERP Gene

  • Skin(4.7)
  • Pancreas(4.7)
  • Nervous system(4)
  • Lung(3.8)
  • Intestine(3.8)
  • Liver(3.7)
  • Eye(3.3)
  • Stomach(3.1)
  • Muscle(2.6)
  • Heart(2.5)
  • Thyroid gland(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with PERP: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PERP Gene

Orthologs for PERP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PERP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PERP 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 31
  • 92 (a)
OneToMany
PERP 30 31
  • 88.95 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia PERP 30 31
  • 91.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Perp 30
  • 88.08 (n)
Mouse
(Mus musculus)
Mammalia Perp 30 17 31
  • 86.87 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PERP 31
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PERP 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC421682 30
  • 63.6 (n)
-- 31
  • 54 (a)
OneToMany
PERP 31
  • 53 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 54 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia perp 30
  • 63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7006 30
Zebrafish
(Danio rerio)
Actinopterygii perp 30 31
  • 60.66 (n)
OneToOne
Species where no ortholog for PERP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 Vase (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 PERP Gene

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

Paralogs for PERP Gene

Paralogs for PERP Gene

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

  • PERP_HUMAN

Pseudogenes.org Pseudogenes for PERP Gene

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

Variants for PERP Gene

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

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
710628 Benign: not provided 138,107,242(-) G/A SYNONYMOUS_VARIANT
780646 Benign: not provided 138,096,415(-) G/A SYNONYMOUS_VARIANT
780647 Benign: not provided 138,107,271(-) C/A MISSENSE_VARIANT
792057 Benign: not provided 138,107,216(-) C/A MISSENSE_VARIANT
rs648802 - p.Pro143Arg

Additional dbSNP identifiers (rs#s) for PERP Gene

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

Variant ID Type Subtype PubMed ID
esv2069832 CNV deletion 18987734
esv2623440 CNV deletion 19546169
nsv1124121 CNV deletion 24896259
nsv1140700 CNV deletion 24896259
nsv1140702 CNV deletion 24896259
nsv472367 CNV novel sequence insertion 20440878

Variation tolerance for PERP Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PERP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PERP Gene

MalaCards: The human disease database

(6) MalaCards diseases for PERP Gene - From: Orphanet, DISEASES, and GeneCards

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

Additional Disease Information for PERP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PERP: view

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

Publications for PERP Gene

  1. Identification of THW, a putative new tumor suppressor gene. (PMID: 11062687) Hildebrandt T … Weidle UH (Anticancer research 2000) 2 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  4. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 41
  5. Single-nucleotide polymorphisms in the p53 pathway genes modify cancer risk in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent. (PMID: 20306497) Yarden RI … Papa MZ (Molecular carcinogenesis 2010) 3 41

Products for PERP Gene

  • Signalway Proteins for PERP

Sources for PERP Gene