PCP2 - Purkinje cell protein 2 Gene

Homo sapiens

Also known as PCD5; GPSM4

Gene ID: 126006 | Gene type: protein coding

About PCP2

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,631,615-7,637,006 (from NCBI)

This gene has 2 transcripts (splice variants) and 105 orthologues. Biased expression in testis (RPKM 11.4), salivary gland (RPKM 2.1) and 8 other tissues.

Summary

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. Predicted to act upstream of or within rhodopsin mediated signaling pathway. Predicted to be located in neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022]

PCP2 Products(2)

mRNA	Protein	Name
NM_001271830.2	NP_001258759.1	Purkinje cell protein 2 homolog isoform 2
NM_174895.3	NP_777555.1	Purkinje cell protein 2 homolog isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCP2 Protein Structure

GoLoco

0
100
136 a.a.

Protein Preferred Names

Protein Names

Purkinje cell protein 2 homolog

CTD-3214H19.6

Related Diseases

Diseases

Alias

Atrial Tachyarrhythmia With Short Pr Interval

Lown-Ganong-Levine Syndrome	Syndrome Of Short P-R Interval, Normal Qrs Complexes, And Supraventricular Tachycardias
Lgl Syndrome

Gaucher Disease, Type Iiic

Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Gaucher-Like Disease
GD3C	Gaucher'S Disease Type Iiic
Cardiovascular Gaucher Disease	Gaucher Disease Type 3c
Gaucher Disease 3c	Pseudo-Gaucher Disease

Gaucher Disease, Type Iii

Gaucher Disease, Subacute Neuronopathic Type	Gd Iii
Gaucher Disease, Chronic Neuronopathic Type	Gaucher Disease, Juvenile And Adult, Cerebral
Gaucher Disease Type 3	GD3
Gaucher'S Disease Type Iii	Gaucher Disease Type Iii
Gd 3	Cerebral Juvenile And Adult Form Of Gaucher Disease
Chronic Neuronopathic Gaucher Disease	Gaucher Disease 3
Cerebral, Juvenile And Adult, Gaucher Disease	Gaucher Disease Chronic Neuronopathic Type
Gaucher Disease Type Ii	Subacute Neuronopathic Gaucher Disease
Type 3 Gaucher Disease	Gaucher Disease, Type 3
Gaucher Disease, Type 2

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1	SCA1
Olivopontocerebellar Atrophy I	Opca1
Opca4	Menzel Type Opca
Schut-Haymaker Type Opca	Spinocerebellar Atrophy I
Opca I	Olivopontocerebellar Atrophy Iv
Opca Iv	Cerebelloparenchymal Disorder I
Cpd1	Olivopontocerebellar Atrophy 1
Cerebelloparenchymal Disorder 1	Olivopontocerebellar Atrophy 4
Spinocerebellar Atrophy 1	Type 1 Spinocerebellar Ataxia
Spinocerebellar Ataxia-1	Ataxia, Spinocerebellar, Type 1

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10167	PCP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PCP2	RGD	RGD:1306217
Bos taurus	PCP2	VGNC	VGNC:32644
Canis familiaris	PCP2	VGNC	VGNC:44318
Mus musculus	PCP2	MGD	MGI:97508
Felis catus	PCP2	VGNC	VGNC:64072
Macaca mulatta	PCP2	VGNC	VGNC:75706
Others	PCP2	NCBI

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