1. Gene
  2. PCP4 - Purkinje cell protein 4 Gene

PCP4 - Purkinje cell protein 4 Gene

Homo sapiens

Also known as PEP-19

Gene ID: 5121 | Gene type: protein coding

About PCP4

Cytogenetic location: 21q22.2 Genomic coordinates (GRCh38): 21:39,867,438-39,929,392 (from NCBI)

This gene has 4 transcripts (splice variants), 166 orthologues and 1 paralogue. Biased expression in prostate (RPKM 108.8), urinary bladder (RPKM 73.3) and 6 other tissues.

Summary

Enables calcium ion binding activity and Calmodulin binding activity. Involved in Calmodulin dependent kinase signaling pathway and positive regulation of neuron differentiation. Located in cytosol and nucleus. Part of protein-containing complex. Biomarker of Huntington's disease and leiomyoma. [provided by Alliance of Genome Resources, Apr 2022]

PCP4 Products(1)

mRNA Protein Name
NM_006198.3 NP_006189.2 calmodulin regulator protein PCP4
Protein Preferred Names Protein Names

calmodulin regulator protein PCP4

brain specific polypeptide PEP19

Related Diseases

Diseases Alias
Leiomyoma

Leiomyomatous Neoplasm

Leiomyomatous Tumor

Leiomyomas

Fibroid Tumor

Uterine Fibroids

Autoimmune Atherosclerosis
Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta PCP4 VGNC VGNC:84749
Felis catus PCP4 VGNC VGNC:102802
Mus musculus PCP4 MGD MGI:97509
Rattus norvegicus PCP4 RGD RGD:3271
Canis familiaris PCP4 VGNC VGNC:44319
Bos taurus PCP4 VGNC VGNC:106858