2. Gene
  3. PKP4 - plakophilin 4 Gene

PKP4 - plakophilin 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as p0071

Gene ID: 8502 | Gene type: protein coding

About PKP4

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:158,456,952-158,681,429 (from NCBI)

This gene has 17 transcripts (splice variants), 211 orthologues and 6 paralogues. Ubiquitous expression in kidney (RPKM 22.9), thyroid (RPKM 17.0) and 25 other tissues.

Summary

Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 Amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

PKP4 Products(14)

mRNA Protein Name
NM_001005476.4 NP_001005476.1 plakophilin-4 isoform b
NM_001304969.3 NP_001291898.1 plakophilin-4 isoform c
NM_001304970.3 NP_001291899.1 plakophilin-4 isoform d
NM_001304971.2 NP_001291900.1 plakophilin-4 isoform e
NM_001377218.1 NP_001364147.1 plakophilin-4 isoform a
NM_001377219.1 NP_001364148.1 plakophilin-4 isoform c
NM_001377220.1 NP_001364149.1 plakophilin-4 isoform c
NM_001377221.1 NP_001364150.1 plakophilin-4 isoform c
NM_001377222.1 NP_001364151.1 plakophilin-4 isoform f
NM_001377223.1 NP_001364152.1 plakophilin-4 isoform f
NM_001377224.1 NP_001364153.1 plakophilin-4 isoform g
NM_001377225.1 NP_001364154.1 plakophilin-4 isoform b
NM_001377226.1 NP_001364155.1 plakophilin-4 isoform h
NM_003628.6 NP_003619.2 plakophilin-4 isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
12047349 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of GTPase activity IDA
IDA: Inferred from direct assay
17115030 GOA
involved in positive regulation of cytokinesis IMP
IMP: Inferred from mutant phenotype
17115030 GOA
Cellular Component GO Annotation Evidence Reference Source
colocalizes with cell-cell contact zone IDA
IDA: Inferred from direct assay
22965878 GOA
located in cell-cell junction IDA
IDA: Inferred from direct assay
8937994 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
22965878 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
17115030 GOA
located in cytoskeleton IDA
IDA: Inferred from direct assay
8937994 GOA
located in desmosome IDA
IDA: Inferred from direct assay
8937994 GOA
colocalizes with midbody IDA
IDA: Inferred from direct assay
22965878 GOA
located in midbody IDA
IDA: Inferred from direct assay
17115030 GOA
located in mitotic spindle IDA
IDA: Inferred from direct assay
17115030 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
8937994 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
8937994 GOA
located in spindle midzone IDA
IDA: Inferred from direct assay
17115030 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
17115030 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PKP4 Protein Structure

Arm

Arm: Armadillo/beta-catenin-like repeat (560 - 598)

Arm

Arm: Armadillo/beta-catenin-like repeat (603 - 644)

Arm

Arm: Armadillo/beta-catenin-like repeat (865 - 900)

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  • 1192 a.a.
Protein Preferred Names Protein Names

plakophilin-4

catenin 4

Related Diseases

Diseases Alias
Familial Renal Oncocytoma
Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular
Pneumothorax, Primary Spontaneous

Primary Spontaneous Pneumothorax

Spontaneous Pneumothorax

Familial Spontaneous Pneumothorax

PSP

Pneumothorax
Osgood-Schlatter'S Disease

Osgood-Schlatter Disease

Juvenile Osteochondrosis Of Tibial Tubercle

Osteochondrosis

Osteochondritis Of Tibial Tubercle

Osteochondrosis Of Proximal Tibia

Aseptic Necrosis Of The Tibial Tubercle

Osteochondrosis Of The Tibial Tubercle

Osteochondritis Juvenilis
Cri-Du-Chat Syndrome

5p Deletion Syndrome

5p Partial Monosomy Syndrome

Monosomy 5p

Cat Cry Syndrome

Chromosome 5p Deletion Syndrome

Cri Du Chat Syndrome

5p- Syndrome

5p Minus Syndrome

Chromosome 5p- Syndrome

Chromosome 5 Short Arm Deletion Syndrome

Chromosome 5p Deletion

Deletion 5p

Cri Du Chat

5p Partial Deletion Syndrome

Partial Deletion Of Short Arm Of Chromosome 5 Syndrome
Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome

Fibrofolliculomas With Trichodiscomas And Acrochordons

BHD

Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculoma Familial

Bhd Syndrome

Birt Hogg Dube Syndrome

Hornstein-Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculomas
Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome
Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10614 PKP4 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PKP4 MGD MGI:109281
Felis catus PKP4 VGNC VGNC:80304
Macaca mulatta PKP4 VGNC VGNC:76153
Canis familiaris PKP4 VGNC VGNC:44618
Bos taurus PKP4 VGNC VGNC:32952
Rattus norvegicus PKP4 RGD RGD:1307840