Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
166336
Gene name Gene Name - the full gene name approved by the HGNC.
Prickle planar cell polarity protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRICKLE2
Synonyms (NCBI Gene) Gene synonyms aliases
EPM5
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs180903875 A>C,G Conflicting-interpretations-of-pathogenicity, benign Intron variant
rs202170644 C>G Pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs727504105 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs797045065 C>- Pathogenic Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017351 hsa-miR-335-5p Microarray 18185580
MIRT030840 hsa-miR-21-5p Microarray 18591254
MIRT555246 hsa-miR-19b-3p PAR-CLIP 21572407
MIRT555245 hsa-miR-19a-3p PAR-CLIP 21572407
MIRT555244 hsa-miR-203a-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IDA
GO:0008270 Function Zinc ion binding IEA
GO:0031965 Component Nuclear membrane IEA
GO:0060071 Process Wnt signaling pathway, planar cell polarity pathway NAS 24431302
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608501 20340 ENSG00000163637
Protein
UniProt ID Q7Z3G6
Protein name Prickle-like protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06297 PET 35 119 PET Domain Domain
PF00412 LIM 130 191 LIM domain Domain
PF00412 LIM 195 251 LIM domain Domain
PF00412 LIM 255 313 LIM domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors. {ECO:0000269|PubMed:12525887}.
Sequence
MVTVMPLEMEKTISKLMFDFQRNSTSDDDSGCALEEYAWVPPGLKPEQVHQYYSCLPEEK
VPYVNSPGEKLRIKQLLHQLPPHDNEVRYCNSLDEEEKRELKLFSSQRKRENLGRGNVR
P
FPVTMTGAICEQCGGQINGGDIAVFASRAGHGVCWHPPCFVCTVCNELLVDLIYFYQDGK
IYCGRHHAECL
KPRCAACDEIIFADECTEAEGRHWHMKHFCCFECETVLGGQRYIMKEGR
PYCCHCFESLY
AEYCDTCAQHIGIDQGQMTYDGQHWHATETCFCCAHCKKSLLGRPFLPK
QGQIFCSRACSAG
EDPNGSDSSDSAFQNARAKESRRSAKIGKNKGKTEEPMLNQHSQLQV
SSNRLSADVDPLSLQMDMLSLSSQTPSLNRDPIWRSREEPYHYGNKMEQNQTQSPLQLLS
QCNIRTSYSPGGQGAGAQPEMWGKHFSNPKRSSSLAMTGHAGSFIKECREDYYPGRLRSQ
ESYSDMSSQSFSETRGSIQVPKYEEEEEEEGGLSTQQCRTRHPISSLKYTEDMTPTEQTP
RGSMESLALSNATGLSADGGAKRQEHLSRFSMPDLSKDSGMNVSEKLSNMGTLNSSMQFR
SAESVRSLLSAQQYQEMEGNLHQLSNPIGYRDLQSHGRMHQSFDFDGGMAGSKLPGQEGV
RIQPMSERTRRRATSRDDNRRFRPHRSRRSRRSRSDNALHLASEREAISRLKDRPPLRAR
EDYDQFMRQRSFQESMGHGSRRDLYGQCPRTVSDLALQNAFGDRWGPYFAEYDWCSTCSS
SSESDNEGYFLGEPIPQPARLRYVTSDELLHKYSSYGLPKSSTLGGRGQLHSRKRQKSKN
CIIS
Sequence length 844
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Wnt signaling pathway  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Systemic onset juvenile chronic arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 27927641
Ataxia neuropathy spectrum disorder Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis rs80356543, rs113994095, rs121918046, rs121918048, rs121918049, rs113994097, rs796052899, rs769827124, rs139717885, rs139562274, rs1484810169, rs1596348443, rs1596352895, rs1596358408 21276947
Epilepsy Epilepsy, Rolandic rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
29358611
Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 5 rs267607199, rs104893950, rs137852917, rs137852915, rs137852916, rs104893955, rs727502773, rs121909118, rs147484110, rs74315442, rs387906881, rs387907246, rs727502785, rs387907260, rs387907261
View all (35 more)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 25918132 ClinVar
Neurodevelopmental Disorders complex neurodevelopmental disorder, neurodevelopmental disorder GenCC
Seborrheic dermatitis Seborrheic dermatitis GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 23478628
Attention Deficit Disorder with Hyperactivity Associate 34092786
Autistic Disorder Associate 34092786
Breast Neoplasms Inhibit 40581983
Carcinoma Squamous Cell Associate 23478628
Developmental Disabilities Associate 34092786
Early Onset Glaucoma Associate 29390993
Epilepsy Associate 34092786
Hypersensitivity Delayed Associate 34092786
Meningomyelocele Associate 28735706