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PRICKLE2 (prickle planar cell polarity protein 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
166336
Gene nameGene Name - the full gene name approved by the HGNC.
Prickle planar cell polarity protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PRICKLE2
SynonymsGene synonyms aliases
EPM5
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.1
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Wnt signaling pathway  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthritis Systemic onset juvenile chronic arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 27927641
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 25918132
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, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532 29358611
Unknown
Disease name Disease term dbSNP ID References
Liver neoplasms Liver neoplasms 19233941
Liver cancer Malignant neoplasm of liver 19233941
Still disease Juvenile-Onset Still Disease 27927641

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