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PRICKLE2 - prickle planar cell polarity protein 2 Gene

Also Known as EPM5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 166336

About PRICKLE2

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:64,092,236-64,268,173 (from NCBI)

This gene has 9 transcripts (splice variants), 274 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in endometrium (RPKM 7.1), brain (RPKM 5.6) and 22 other tissues.

Summary

This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]

PRICKLE2 Products (2)

mRNA	Protein	Name
NM_001370528.1	NP_001357457.1	prickle-like protein 2
NM_198859.4	NP_942559.1	prickle-like protein 2

PRICKLE2 Protein Structure

PET

LIM

0
200
400
600
800
844 a.a.

Protein Preferred Names	Protein Names
prickle-like protein 2	prickle homolog 2

Related Diseases

Diseases	Alias
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Autosomal Dominant Non-Syndromic Intellectual Disability
Progressive Myoclonus Epilepsy 6	Progressive Myoclonic Epilepsy Type 6 Epm6 Gosr2-Related Progressive Myoclonus Ataxia North Sea Progressive Myoclonus Epilepsy Pme Type 6 Progressive Myoclonus Epilepsy Type 6 Epilepsy, Progressive Myoclonic, 6
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Progressive Myoclonus Epilepsy 1a	Epm1a
Myasthenic Syndrome, Congenital, 13	Congenital Myasthenic Syndrome 13 CMS13 Cmsta2 Myasthenic Syndrome, Congenital, With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates Congenital Myasthenic Syndrome 13 With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2
Progressive Myoclonus Epilepsy 1b	Epm1b
Progressive Myoclonus Epilepsy 4	Action Myoclonus-Renal Failure Syndrome Amrf Epm4 Myoclonus-Nephropathy Syndrome
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11094	PRICKLE2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PRICKLE2	VGNC	VGNC:33316
Rattus norvegicus	PRICKLE2	RGD	RGD:1306723
Canis familiaris	PRICKLE2	VGNC	VGNC:44966
Felis catus	PRICKLE2	VGNC	VGNC:64354
Mus musculus	PRICKLE2	MGD	MGI:1925144
Macaca mulatta	PRICKLE2	VGNC	VGNC:76294
Others	PRICKLE2	NCBI