PRICKLE2 - prickle planar cell polarity protein 2 Gene

Homo sapiens

Also known as EPM5

Gene ID: 166336 | Gene type: protein coding

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
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

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

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