Gene Gene information from NCBI Gene database.
Entrez ID 64065
Gene name P53 apoptosis effector related to PMP22
Gene symbol PERP
Synonyms (NCBI Gene)
EKVP7KCP1KRTCAP1OLMS2PIGPC1THWdJ496H19.1
Chromosome 6
Chromosome location 6q23.3
miRNA miRNA information provided by mirtarbase database.
426
miRTarBase ID miRNA Experiments Reference
MIRT004143 hsa-miR-192-5p Microarray 16822819
MIRT024851 hsa-miR-215-5p Microarray 19074876
MIRT004143 hsa-miR-192-5p Microarray 19074876
MIRT053400 hsa-miR-629-5p Microarray 23807165
MIRT700856 hsa-miR-1179 HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
TP53 Repression 17344317
TP53 Unknown 15856024
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0001894 Process Tissue homeostasis IEA
GO:0001894 Process Tissue homeostasis ISS
GO:0002934 Process Desmosome organization IEA
GO:0005515 Function Protein binding IPI 25486861, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609301 17637 ENSG00000112378
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96FX8
Protein name p53 apoptosis effector related to PMP-22 (Keratinocyte-associated protein 1) (KCP-1) (P53-induced protein PIGPC1) (Transmembrane protein THW)
Protein function Component of intercellular desmosome junctions (By similarity). Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly (By similarity). Thereby plays a role in barrier function of the skin against
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 14 169 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts. May translocate to the intestinal apical epithelial cell surface via sipA and sctB1/sipC-promoted exocytic translocation following infection by
Sequence
Sequence length 193
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  p53 signaling pathway   TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Erythrokeratodermia variabilis et progressiva 7 Pathogenic rs769404975, rs1775596006 RCV001293413
RCV001293415
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Olmsted syndrome 2 Pathogenic rs1775596924, rs1775596990, rs201454106 RCV001293410
RCV001293411
RCV001293412
RCV001293414
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BULIMIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL PALMOPLANTAR AND PERIORAL KERATODERMA OF OLMSTED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GREITHER DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22236877
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anhidrosis Anhidrosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy BEFREE 21254927
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 24066004 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Exstrophy and Epispadias Complex Bladder Exstrophy And Epispadias Complex BEFREE 23743131
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28925397
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35178836 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23217540 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22236877
★☆☆☆☆
Found in Text Mining only