Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8502
Gene name Gene Name - the full gene name approved by the HGNC.
Plakophilin 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PKP4
Synonyms (NCBI Gene) Gene synonyms aliases
p0071
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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, 30126976, 31515488
GO:0005634 Component Nucleus IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604276 9026 ENSG00000144283
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Hypertension Hypertension GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Arrhythmogenic Right Ventricular Dysplasia Associate 20152563
Bipolar Disorder Associate 28632202
Borderline Personality Disorder Associate 28632202
Immunologic Deficiency Syndromes Associate 22965878
Neoplasms Associate 22965878
Schizophrenia Associate 28632202
Sick Sinus Syndrome Associate 27182706