• Gene id: 166336

Gene Summary

• Gene Symbol: PRICKLE2   Gene   UCSC   Ensembl
• Aliases: EPM5
• Gene name: prickle planar cell polarity protein 2
• Alternate names: prickle-like protein 2, prickle homolog 2,
• Gene location: 3p14.1 (64445475: 64092235)     Exons: 15     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 608501

Protein Summary

• Protein general information: Q7Z3G6  
  • Name: Prickle like protein 2
  • Length: 844  
  • Mass: 95615
  • Tissue specificity: Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors. {ECO
• Sequence:

  MVTVMPLEMEKTISKLMFDFQRNSTSDDDSGCALEEYAWVPPGLKPEQVHQYYSCLPEEKVPYVNSPGEKLRIKQ
  LLHQLPPHDNEVRYCNSLDEEEKRELKLFSSQRKRENLGRGNVRPFPVTMTGAICEQCGGQINGGDIAVFASRAG
  HGVCWHPPCFVCTVCNELLVDLIYFYQDGKIYCGRHHAECLKPRCAACDEIIFADECTEAEGRHWHMKHFCCFEC
  ETVLGGQRYIMKEGRPYCCHCFESLYAEYCDTCAQHIGIDQGQMTYDGQHWHATETCFCCAHCKKSLLGRPFLPK
  QGQIFCSRACSAGEDPNGSDSSDSAFQNARAKESRRSAKIGKNKGKTEEPMLNQHSQLQVSSNRLSADVDPLSLQ
  MDMLSLSSQTPSLNRDPIWRSREEPYHYGNKMEQNQTQSPLQLLSQCNIRTSYSPGGQGAGAQPEMWGKHFSNPK
  RSSSLAMTGHAGSFIKECREDYYPGRLRSQESYSDMSSQSFSETRGSIQVPKYEEEEEEEGGLSTQQCRTRHPIS
  SLKYTEDMTPTEQTPRGSMESLALSNATGLSADGGAKRQEHLSRFSMPDLSKDSGMNVSEKLSNMGTLNSSMQFR
  SAESVRSLLSAQQYQEMEGNLHQLSNPIGYRDLQSHGRMHQSFDFDGGMAGSKLPGQEGVRIQPMSERTRRRATS
  RDDNRRFRPHRSRRSRRSRSDNALHLASEREAISRLKDRPPLRAREDYDQFMRQRSFQESMGHGSRRDLYGQCPR
  TVSDLALQNAFGDRWGPYFAEYDWCSTCSSSSESDNEGYFLGEPIPQPARLRYVTSDELLHKYSSYGLPKSSTLG
  GRGQLHSRKRQKSKNCIIS

• Structural information:
  • Protein Domains: (18..12-)
    (/note="PET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00636-)
    (128..19-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (193..25-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-)
  • Interpro: IPR033725  IPR033726  IPR033727  IPR010442  IPR033723   IPR001781  
  • Prosite: PS00478 PS50023 PS51303
  • CDD: cd09415 cd09418 cd09420 cd09827
  • STRING: ENSP00000295902
• Other Databases: GeneCards:  PRICKLE2  Malacards:  PRICKLE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Progressive myoclonic epilepsy	KEGG:H00810
Progressive myoclonic epilepsy	KEGG:H00810
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray