Gene Gene information from NCBI Gene database.
Entrez ID 8502
Gene name Plakophilin 4
Gene symbol PKP4
Synonyms (NCBI Gene)
p0071
Chromosome 2
Chromosome location 2q24.1
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 o
miRNA miRNA information provided by mirtarbase database.
228
miRTarBase ID miRNA Experiments Reference
MIRT024827 hsa-miR-215-5p Microarray 19074876
MIRT026600 hsa-miR-192-5p Microarray 19074876
MIRT439956 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439956 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1238163 hsa-miR-1226 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IDA 17115030
GO:0001533 Component Cornified envelope TAS
GO:0005515 Function Protein binding IPI 12047349, 16203728, 17115030, 19706687, 22965878, 24550280, 25009281, 25416956, 25910212, 30126976, 31515488, 32296183
GO:0005634 Component Nucleus IBA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604276 9026 ENSG00000144283
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99569
Protein name Plakophilin-4 (p0071)
Protein function Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00514 Arm 559 599 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 603 644 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 863 901 Armadillo/beta-catenin-like repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in salivary glands (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528). {ECO:0000269|PubMed:29034528, ECO:0000269|PubMed:30479852}.
Sequence
MPAPEQASLVEEGQPQTRQEAASTGPGMEPETTATTILASVKEQELQFQRLTRELEVERQ
IVASQLERCRLGAESPSIASTSSTEKSFPWRSTDVPNTGVSKPRVSDAVQPNNYLIRTEP
EQGTLYSPEQTSLHESEGSLGNSRSSTQMNSYSDSGYQEAGSFHNSQNVSKADNRQQHSF
IGSTNNHVVRNSRAEGQTLVQPSVANRAMRRVSSVPSRAQSPSYVISTGVSPSRGSLRTS
LGSGFGSPSVTDPRPLNPSAYSSTTLPAARAASPYSQRPASPTAIRRIGSVTSRQTSNPN
GPTPQYQTTARVGSPLTLTDAQTRVASPSQGQVGSSSPKRSGMTAVPQHLGPSLQRTVHD
MEQFGQQQYDIYERMVPPRPDSLTGLRSSYASQHSQLGQDLRSAVSPDLHITPIYEGRTY
YSPVYRSPNHGTVELQGSQTALYRTGSVGIGNLQRTSSQRSTLTYQRNNYALNTTATYAE
PYRPIQYRVQECNYNRLQHAVPADDGTTRSPSIDSIQKDPREFAWRDPELPEVIHMLQHQ
FPSVQANAAAYLQHLCFGDNKVKMEVCRLGGIKHLVDLLDHRVLEVQKNACGALRNLVFG
KSTDENKIAMKNVGGIPALLRLLRKSIDAEVRELVTGVLWNLSSCDAVKMTIIRDALSTL
TNTVIVPHSGWNNSSFDDDHKIKFQTSLVLRNTTGCLRNLSSAGEEARKQMRSCEGLVDS
LLYVIHTCVNTSDYDSKTVENCVCTLRNLSYRLELEVPQARLLGLNELDDLLGKESPSKD
SEPSCWGKKKKKKKRTPQEDQWDGVGPIPGLSKSPKGVEMLWHPSVVKPYLTLLAESSNP
ATLEGSAGSLQNLSAGNWKFAAYIRAAVRKEKGLPILVELLRMDNDRVVSSVATALRNMA
L
DVRNKELIGKYAMRDLVNRLPGGNGPSVLSDETMAAICCALHEVTSKNMENAKALADSG
GIEKLVNITKGRGDRSSLKVVKAAAQVLNTLWQYRDLRSIYKKDGWNQNHFITPVSTLER
DRFKSHPSLSTTNQQMSPIIQSVGSTSSSPALLGIRDPRSEYDRTQPPMQYYNSQGDATH
KGLYPGSSKPSPIYISSYSSPAREQNRRLQHQQLYYSQDDSNRKNFDAYRLYLQSPHSYE
DPYFDDRVHFPASTDYSTQYGLKSTTNYVDFYSTKRPSYRAEQYPGSPDSWV
Sequence length 1192
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder Conflicting classifications of pathogenicity ClinVar
GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arrhythmogenic Right Ventricular Dysplasia Associate 20152563
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Associate 28632202
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Associate 28632202
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Associate 22965878
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 22965878
★☆☆☆☆
Found in Text Mining only
Schizophrenia Associate 28632202
★☆☆☆☆
Found in Text Mining only
Sick Sinus Syndrome Associate 27182706
★☆☆☆☆
Found in Text Mining only