Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5121
Gene name	Purkinje cell protein 4
Gene symbol	PCP4
Synonyms (NCBI Gene)	PEP-19
Chromosome	21
Chromosome location	21q22.2

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (13)

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

MIM	HGNC	e!Ensembl
601629	8742	ENSG00000183036

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

Family and domains

Sequence

MSERQGAGATNGKDKTSGENDGQKKVQEEFDIDMDAPETERAAVAIQSQFRKFQKKKAGS
QS

Sequence length

Interactions

View interactions

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
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

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	24403568	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	25153723, 27384474	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Associate	10207158	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Associate	24403568	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	21044360	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	27384474	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	32641824	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Associate	35030971	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	28700469	★★★★★ ★☆☆☆☆ Found in Text Mining only

PCP4 (Purkinje cell protein 4)