PCP2 - Purkinje cell protein 2 Gene

Also Known as PCD5; GPSM4

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 126006

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
Molecular Function GO Annotation Evidence 参考文献 由来
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

GoLoco: GoLoco motif (23 - 45)

GoLoco

GoLoco: GoLoco motif (64 - 84)

  • 0
  • 100
  • 136 a.a.
Protein Preferred Names Protein Names

Purkinje cell protein 2 homolog

  • CTD-3214H19.6

PCP2 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
PCP2 Q8IVA1 MEOX1 Homo sapiens P50221 32296183
Intra
PCP2 Q8IVA1 MEOX1 Homo sapiens P50221 32296183
Intra
PCP2 Q8IVA1 GNAI2 Homo sapiens P04899 32296183
Intra
PCP2 Q8IVA1 GNAI2 Homo sapiens P04899 32296183
Intra
PCP2 Q8IVA1 GNAI3 Homo sapiens P08754 32296183
Intra
PCP2 Q8IVA1 GNAI3 Homo sapiens P08754 28514442
Intra
PCP2 Q8IVA1 GNAI3 Homo sapiens P08754 32296183
Intra
PCP2 Q8IVA1 GNAI1 Homo sapiens P63096 32296183
Intra
PCP2 Q8IVA1 GNAI1 Homo sapiens P63096 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Orthologs Information

生物種 Symbol 由来 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