PCP4 (Purkinje cell protein 4)

Gene

• Entrez ID: 5121
• Gene name: Purkinje cell protein 4
• Gene symbol: PCP4
• Synonyms (NCBI Gene): PEP-19
• Chromosome: 21
• Chromosome location: 21q22.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1218373	hsa-miR-1251	CLIP-seq
MIRT1218374	hsa-miR-1255a	CLIP-seq
MIRT1218375	hsa-miR-1255b	CLIP-seq
MIRT1218376	hsa-miR-147	CLIP-seq
MIRT1218377	hsa-miR-33a	CLIP-seq
MIRT1218378	hsa-miR-33b	CLIP-seq
MIRT1218379	hsa-miR-3667-3p	CLIP-seq
MIRT1218380	hsa-miR-3680	CLIP-seq
MIRT1218381	hsa-miR-3685	CLIP-seq
MIRT1218382	hsa-miR-3686	CLIP-seq
MIRT1218383	hsa-miR-3689d	CLIP-seq
MIRT1218384	hsa-miR-3691-5p	CLIP-seq
MIRT1218385	hsa-miR-376c	CLIP-seq
MIRT1218386	hsa-miR-3911	CLIP-seq
MIRT1218387	hsa-miR-3976	CLIP-seq
MIRT1218388	hsa-miR-4443	CLIP-seq
MIRT1218389	hsa-miR-4464	CLIP-seq
MIRT1218390	hsa-miR-4652-3p	CLIP-seq
MIRT1218391	hsa-miR-4748	CLIP-seq
MIRT1218392	hsa-miR-4752	CLIP-seq
MIRT1218393	hsa-miR-4768-5p	CLIP-seq
MIRT1218394	hsa-miR-4798-3p	CLIP-seq
MIRT1218395	hsa-miR-513a-5p	CLIP-seq
MIRT1218396	hsa-miR-586	CLIP-seq
MIRT1218397	hsa-miR-609	CLIP-seq
MIRT1218398	hsa-miR-617	CLIP-seq
MIRT1218399	hsa-miR-624	CLIP-seq
MIRT1218400	hsa-miR-644	CLIP-seq
MIRT1218401	hsa-miR-942	CLIP-seq
MIRT2063180	hsa-miR-1245b-3p	CLIP-seq
MIRT2063181	hsa-miR-4775	CLIP-seq
MIRT2063182	hsa-miR-526b	CLIP-seq
MIRT2063183	hsa-miR-578	CLIP-seq
MIRT1218377	hsa-miR-33a	CLIP-seq
MIRT1218378	hsa-miR-33b	CLIP-seq
MIRT1218396	hsa-miR-586	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	23204517
GO:0005515	Function	Protein binding	IPI	21044950, 32296183
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IDA	23204517
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IPI	19106096
GO:0005634	Component	Nucleus	HDA	16780588
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0032991	Component	Protein-containing complex	IDA	19106096
GO:0045666	Process	Positive regulation of neuron differentiation	IMP	21491429
GO:1905291	Process	Positive regulation of CAMKK-AMPK signaling cascade	IMP	21491429

Other IDs

• MIM: 601629
• HGNC: 8742
• e!Ensembl: ENSG00000183036

Protein

• UniProt ID: P48539
• Protein name: Calmodulin regulator protein PCP4 (Brain-specific polypeptide PEP-19) (Purkinje cell protein 4)
• Protein function: Functions as a modulator of calcium-binding by calmodulin. Thereby, regulates calmodulin activity and the different processes it controls (PubMed:19106096, PubMed:23204517, PubMed:27876793). For instance, may play a role in neuronal differentiat
• PDB: 2N77
• Sequence:

  MSERQGAGATNGKDKTSGENDGQKKVQEEFDIDMDAPETERAAVAIQSQFRKFQKKKAGS
  QS

• Sequence length: 62

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	24403568		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	29294065		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	24403568	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27712463		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27712463		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25153723, 30038708		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25153723, 27384474	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	28069794		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15059925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conn Adenoma	Conn Adenoma	BEFREE	29294065		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	24403568		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	10207158	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21491429, 24291518, 28069794		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30995799		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	14561813		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	9697113		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	24403568	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	14561813		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21044360	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25153723, 30038708		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25153723		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15059925		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32641824	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35030971	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17511658, 9697113		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28700469	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	14561813		★☆☆☆☆ Found in Text Mining only