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
325410002020Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the Kir2.1-Regulated Inward Rectifier Potassium Currents.11
325410002020Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the Kir2.1-Regulated Inward Rectifier Potassium Currents.11
288984622018p0071 interacts with E-cadherin in the cytoplasm so as to promote the invasion and metastasis of non-small cell lung cancer.2
288984622018p0071 interacts with E-cadherin in the cytoplasm so as to promote the invasion and metastasis of non-small cell lung cancer.2
288080882017The armadillo protein p0071 controls KIF3 motor transport.4
288080882017The armadillo protein p0071 controls KIF3 motor transport.4
241634342014The armadillo protein p0071 is involved in Rab11-dependent recycling.5
241634342014The armadillo protein p0071 is involved in Rab11-dependent recycling.5
236409392013p0071/PKP4, a multifunctional protein coordinating cell adhesion with cytoskeletal organization.20
236409392013p0071/PKP4, a multifunctional protein coordinating cell adhesion with cytoskeletal organization.20
229658782012Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis.23
231397562012Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion.35
229658782012Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis.23
231397562012Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion.35
198304462010Protein p0071, an armadillo plaque protein of adherens junctions, is predominantly expressed in distal renal tubules.2

Citation

Dessen P

PKP4 (plakophilin 4)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53383/pkp4-(plakophilin-4)