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Aliases for PERP Gene

Aliases for PERP Gene

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

External Ids for PERP Gene

Previous GeneCards Identifiers for PERP Gene

  • GC06M138392
  • GC06M138453
  • GC06M135971

Summaries for PERP Gene

GeneCards Summary for PERP Gene

PERP (PERP, TP53 Apoptosis Effector) is a Protein Coding gene. Diseases associated with PERP include Arrhythmogenic Right Ventricular Cardiomyopathy. Among its related pathways are Gene Expression and Direct p53 effectors. An important paralog of this gene is TMEM47.

UniProtKB/Swiss-Prot 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

Additional gene information for PERP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PERP Gene

Genomics for PERP Gene

GeneHancer (GH) Regulatory Elements for PERP Gene

Promoters and enhancers for PERP Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J138100 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 659.9 +3.0 2953 10.2 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF213 PERP HEBP2 ARFGEF3 GC06P138107 LOC105378021
GH06J138535 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -434.2 -434201 12.8 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZNF121 FOS NHSL1 FLJ46906 PERP HEBP2 PBOV1 ENSG00000274594 LOC100129577
GH06J138028 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 16.9 +78.5 78499 0.8 SMARCE1 ZNF687 RFX1 NFIB DPF2 KLF4 ZBTB7B ZNF592 ZNF217 CTBP1 PERP LOC105378021 RPSAP42
GH06J138496 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -395.6 -395605 13.3 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 NHSL1 PERP REPS1 ENSG00000274594 LOC100129577
GH06J137696 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +409.1 409088 3.7 PKNOX1 FOXA2 MLX ARID4B ZNF48 ETS1 ZNF121 SP5 MIER2 REST TNFAIP3 LOC100130476 PERP LOC442263 HEBP2 IFNGR1 ENSG00000283265 LOC102723649
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PERP Gene

Genomic Locations for PERP Gene
19,019 bases
Minus strand
19,019 bases
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:
    Recommended name:
    p53 apoptosis effector related to PMP-22
    Protein Accession:
    Secondary Accessions:
    • B2RB73
    • E1P590
    • Q8IWS3
    • Q8N1J6
    • Q8NC16
    • Q9H1C5
    • Q9H230

    Protein attributes for PERP Gene

    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:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TMEM47 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

Animal Models for PERP Gene

MGI Knock Outs for PERP:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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

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 2

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:0016020 membrane IEA --
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

SIGNOR curated interactions for PERP Gene

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. 3113
Epirubicin Approved Pharma 426
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1970
genes like me logo Genes that share compounds with PERP: view

Transcripts for PERP Gene

mRNA/cDNA for PERP Gene

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

Unigene Clusters for PERP Gene

PERP, TP53 apoptosis effector:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for PERP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PERP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PERP Gene:


SOURCE GeneReport for Unigene cluster for PERP Gene:


mRNA Expression by UniProt/SwissProt for PERP Gene:

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

Evidence on tissue expression from TISSUES for PERP Gene

  • Pancreas(4.6)
  • Skin(4.6)
  • Nervous system(3.7)
  • Intestine(3.4)
  • Lung(3.4)
  • Liver(3.1)
  • Eye(2.8)
  • Stomach(2.6)
  • Muscle(2.1)
  • Thyroid gland(2.1)
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
(Pan troglodytes)
Mammalia PERP 34
  • 99 (a)
(Bos Taurus)
Mammalia -- 34
  • 92 (a)
PERP 34 33
  • 88.95 (n)
(Canis familiaris)
Mammalia PERP 34 33
  • 91.88 (n)
(Rattus norvegicus)
Mammalia Perp 33
  • 88.08 (n)
(Mus musculus)
Mammalia Perp 16 34 33
  • 86.87 (n)
(Ornithorhynchus anatinus)
Mammalia PERP 34
  • 85 (a)
(Monodelphis domestica)
Mammalia PERP 34
  • 81 (a)
(Gallus gallus)
Aves LOC421682 33
  • 63.6 (n)
-- 34
  • 54 (a)
  • 53 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 54 (a)
-- 34
  • 47 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia perp 33
  • 63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7006 33
(Danio rerio)
Actinopterygii perp 34 33
  • 60.66 (n)
Species where no ortholog for PERP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 PERP Gene

Gene Tree for PERP (if available)
Gene Tree for PERP (if available)
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 for PERP Gene

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

Variants for PERP Gene

Sequence variations from dbSNP and Humsavar for PERP Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000333480 -- 138,101,614(-) T/C intron_variant
rs1000363738 -- 138,105,729(-) C/T intron_variant
rs1000703631 -- 138,107,127(-) /G coding_sequence_variant
rs1000708843 -- 138,106,755(-) C/A intron_variant
rs1000890478 -- 138,095,696(-) A/C intron_variant

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

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

(1) MalaCards diseases for PERP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
- 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
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58
  3. 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 44 58
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  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 44 58

Products for PERP Gene

Sources for PERP Gene

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