Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5121
Gene name Gene Name - the full gene name approved by the HGNC.
Purkinje cell protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCP4
Synonyms (NCBI Gene) Gene synonyms aliases
PEP-19
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.2
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005509 Function Calcium ion binding IDA 23204517
GO:0005515 Function Protein binding IPI 21044950, 32296183
GO:0005516 Function Calmodulin binding IBA 21873635
GO:0005516 Function Calmodulin binding IDA 23204517
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601629 8742 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
Family and domains
Sequence
MSERQGAGATNGKDKTSGENDGQKKVQEEFDIDMDAPETERAAVAIQSQFRKFQKKKAGS
QS
Sequence length 62
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 15059925
Unknown
Disease term Disease name Evidence References Source
Melanoma Melanoma SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adrenocortical Carcinoma Associate 24403568
Breast Neoplasms Associate 25153723, 27384474
Down Syndrome Associate 10207158
Hyperaldosteronism Associate 24403568
Leukemia Associate 21044360
Neoplasms Associate 27384474
Neuroblastoma Associate 32641824
Osteoporosis Associate 35030971
Prostatic Neoplasms Associate 28700469