Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64065
Gene name Gene Name - the full gene name approved by the HGNC.
P53 apoptosis effector related to PMP22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PERP
Synonyms (NCBI Gene) Gene synonyms aliases
EKVP7, KCP1, KRTCAP1, OLMS2, PIGPC1, THW, dJ496H19.1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q23.3
miRNA miRNA information provided by mirtarbase database.
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 factor Regulation Reference
TP53 Repression 17344317
TP53 Unknown 15856024
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609301 17637 ENSG00000112378
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bulimia Bulimia nervosa N/A N/A GWAS
Erythrokeratodermia Variabilis erythrokeratodermia variabilis et progressiva 7 N/A N/A GenCC
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques mutilating palmoplantar keratoderma with periorificial keratotic plaques N/A N/A GenCC
Olmsted Syndrome Olmsted syndrome 2 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abrikosov's tumor Inhibit 28323918
Acantholysis Associate 19521407
Adenocarcinoma of Lung Associate 32360590
Arthritis Rheumatoid Associate 24066004
Breast Neoplasms Associate 35178836
Carcinogenesis Associate 23217540
Carcinoma Squamous Cell Associate 23217540
Dwarfism Pituitary Associate 28323918
Erythrokeratoderma Reticular Associate 37510397
Gastroesophageal Reflux Associate 21212151