PPL (periplakin)

2007-02-01 Affiliation

Identity

HGNC

PPL

LOCATION

16p13.3

LOCUSID

5493

ALIAS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5493
MIM: 602871
HGNC: 9273
Ensembl: ENSG00000118898

Variants:

dbSNP: 5493
ClinVar: 5493
TCGA: ENSG00000118898
COSMIC: PPL

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000118898	ENST00000345988	O60437
ENSG00000118898	ENST00000590782	K7EKI8
ENSG00000118898	ENST00000592772	K7EQ71

Expression (GTEx)

500

1000

1500

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Developmental Biology	REACTOME	R-HSA-1266738
Keratinization	REACTOME	R-HSA-6805567
Formation of the cornified envelope	REACTOME	R-HSA-6809371
Butyrophilin (BTN) family interactions	REACTOME	R-HSA-8851680

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34815391	2021	Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.	14
34815391	2021	Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.	14
32081916	2020	Binding of the periplakin linker requires vimentin acidic residues D176 and E187.	3
32081916	2020	Binding of the periplakin linker requires vimentin acidic residues D176 and E187.	3
30516430	2019	SUMOylation of periplakin is critical for efficient reorganization of keratin filament network.	6
30787334	2019	The 4717C > G polymorphism in periplakin modulates sensitivity to EGFR inhibitors.	2
30516430	2019	SUMOylation of periplakin is critical for efficient reorganization of keratin filament network.	6
30787334	2019	The 4717C > G polymorphism in periplakin modulates sensitivity to EGFR inhibitors.	2
28068625	2017	Loss of periplakin expression is associated with the tumorigenesis of colorectal carcinoma.	15
28068625	2017	Loss of periplakin expression is associated with the tumorigenesis of colorectal carcinoma.	15
27717390	2016	Perip7lakin is a target for autoimmunity in asthma.	8
27717390	2016	Perip7lakin is a target for autoimmunity in asthma.	8
25637025	2015	Activation of human γδ T cells by cytosolic interactions of BTN3A1 with soluble phosphoantigens and the cytoskeletal adaptor periplakin.	85
25637025	2015	Activation of human γδ T cells by cytosolic interactions of BTN3A1 with soluble phosphoantigens and the cytoskeletal adaptor periplakin.	85
24942859	2014	Loss of periplakin expression is associated with pathological stage and cancer-specific survival in patients with urothelial carcinoma of the urinary bladder.	13

Citation

Dessen P

PPL (periplakin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46425/ppl-(periplakin)