PKP4 (plakophilin 4)

2013-06-01  

Identity

HGNC
PKP4
LOCATION
2q24.1
LOCUSID
8502
ALIAS
p0071
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8502
MIM: 604276
HGNC: 9026
Ensembl: ENSG00000144283

Variants:

dbSNP: 8502
ClinVar: 8502
TCGA: ENSG00000144283
COSMIC: PKP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144283ENST00000389757Q99569
ENSG00000144283ENST00000389759Q99569
ENSG00000144283ENST00000411900E7EMY7
ENSG00000144283ENST00000421462E7EST6
ENSG00000144283ENST00000426248E7EST6
ENSG00000144283ENST00000452162E9PHJ1
ENSG00000144283ENST00000457109E7EP40
ENSG00000144283ENST00000481115H0YFB1
ENSG00000144283ENST00000628904A0A0D9SF60
ENSG00000144283ENST00000629219E7EP40

Expression (GTEx)

0
50
100
150
200
250
300
350
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

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
171150302006The armadillo protein p0071 regulates Rho signalling during cytokinesis.29
231397562012Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion.25
153040782004Comparative analysis of armadillo family proteins in the regulation of a431 epithelial cell junction assembly, adhesion and migration.20
126159652003Targeting of p0071 to desmosomes and adherens junctions is mediated by different protein domains.18
229658782012Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis.18
120473492002ERBIN associates with p0071, an armadillo protein, at cell-cell junctions of epithelial cells.13
236409392013p0071/PKP4, a multifunctional protein coordinating cell adhesion with cytoskeletal organization.13
172646752007Beyond regulation of cell adhesion: local control of RhoA at the cleavage furrow by the p0071 catenin.10

Citation

Dessen P

PKP4 (plakophilin 4)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53383/pkp4