PRICKLE2 (prickle planar cell polarity protein 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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166336 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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PRICKLE2 |
SynonymsGene synonyms aliases
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EPM5 |
ChromosomeChromosome number
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3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3p14.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0005737 |
Component |
Cytoplasm |
IDA |
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GO:0008270 |
Function |
Zinc ion binding |
IEA |
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GO:0031965 |
Component |
Nuclear membrane |
IEA |
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GO:0060071 |
Process |
Wnt signaling pathway, planar cell polarity pathway |
NAS |
24431302 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
Progressive myoclonic epilepsy |
Progressive myoclonic epilepsy type 5 |
rs267607199, rs104893950, rs137852917, rs137852915, rs137852916, rs104893955, rs727502773, rs121909118, rs147484110, rs74315442, rs387906881, rs387907246, rs727502785, rs387907260, rs387907261, rs387907262, rs387907263, rs796943858, rs545986367, rs727502818, rs200024180, rs200053119, rs797045143, rs863223401, rs797045065, rs141554661, rs886041078, rs886041076, rs886041075, rs781291421, rs750811871, rs746855352, rs1554263320, rs187930476, rs1085307785, rs1554991378, rs1554397774, rs1554397834, rs1568177307, rs1565162623, rs1569006250, rs561672108, rs1590088831, rs1380954046, rs1601855887, rs1590106815, rs747676224, rs1776817138, rs1786631768, rs776869841 |
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Rheumatoid arthritis |
Rheumatoid Arthritis, Systemic Juvenile |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
27927641 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Liver neoplasms |
Liver neoplasms |
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19233941 |
Liver cancer |
Malignant neoplasm of liver |
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19233941 |
Still disease |
Juvenile-Onset Still Disease |
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27927641 |
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