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Protein

Prickle-like protein 2

Gene

PRICKLE2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

  • Wnt signaling pathway, planar cell polarity pathway Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Prickle-like protein 2
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:20340. PRICKLE2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia with epilepsy (SCAE)2 Publications
The gene represented in this entry may be involved in disease pathogenesis. The role of PRICKLE2 mutations in disease pathogenesis is unclear. There is evidence that SCAE can be caused by POLG mutations (PubMed:26942291), but a contribution of PRICKLE2 mutations to the epilepsy component of disease phenotype cannot be ruled out (PubMed:26942292).2 Publications
Disease descriptionAn autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases.
See also OMIM:607459
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065582148R → H in SCAE; unknown pathological significance; results in increased protein activity when associated with Ile-153; less active in stimulating calcium release when associated with Ile-153. 1 PublicationCorresponds to variant rs387906988dbSNPEnsembl.1
Natural variantiVAR_065583153V → I in SCAE; unknown pathological significance; results in increased protein activity when associated with His-148; less active in stimulating calcium release when associated with His-148. 1 PublicationCorresponds to variant rs139747674dbSNPEnsembl.1
Natural variantiVAR_065584605V → F in SCAE; unknown pathological significance; results in decreased protein activity; less active in stimulating calcium release compared to wild-type. 1 PublicationCorresponds to variant rs387906989dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi166336.
MalaCardsiPRICKLE2.
MIMi607459. phenotype.
OpenTargetsiENSG00000163637.
Orphaneti402082. Progressive myoclonic epilepsy type 5.
PharmGKBiPA134883144.

Polymorphism and mutation databases

BioMutaiPRICKLE2.
DMDMi85701877.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000758911 – 841Prickle-like protein 2Add BLAST841
PropeptideiPRO_0000396718842 – 844Removed in mature formCurated3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei92PhosphoserineBy similarity1
Modified residuei319PhosphoserineBy similarity1
Modified residuei321PhosphoserineBy similarity1
Modified residuei322PhosphoserineBy similarity1
Modified residuei534PhosphothreonineBy similarity1
Modified residuei536PhosphothreonineBy similarity1
Modified residuei539PhosphothreonineBy similarity1
Modified residuei543PhosphoserineBy similarity1
Modified residuei546PhosphoserineBy similarity1
Modified residuei607PhosphoserineBy similarity1
Modified residuei642PhosphoserineBy similarity1
Modified residuei731PhosphoserineBy similarity1
Modified residuei841Cysteine methyl esterCurated1
Lipidationi841S-farnesyl cysteine1 Publication1

Keywords - PTMi

Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

EPDiQ7Z3G6.
MaxQBiQ7Z3G6.
PaxDbiQ7Z3G6.
PeptideAtlasiQ7Z3G6.
PRIDEiQ7Z3G6.

PTM databases

iPTMnetiQ7Z3G6.
PhosphoSitePlusiQ7Z3G6.

Expressioni

Tissue specificityi

Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors.1 Publication

Gene expression databases

BgeeiENSG00000163637.
CleanExiHS_PRICKLE2.
ExpressionAtlasiQ7Z3G6. baseline and differential.
GenevisibleiQ7Z3G6. HS.

Organism-specific databases

HPAiHPA035493.

Interactioni

Protein-protein interaction databases

BioGridi127925. 13 interactors.
IntActiQ7Z3G6. 2 interactors.
MINTiMINT-6777790.
STRINGi9606.ENSP00000295902.

Structurei

3D structure databases

ProteinModelPortaliQ7Z3G6.
SMRiQ7Z3G6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 126PETPROSITE-ProRule annotationAdd BLAST109
Domaini128 – 193LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST66
Domaini193 – 253LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST61
Domaini253 – 317LIM zinc-binding 3PROSITE-ProRule annotationAdd BLAST65

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi504 – 510Poly-Glu7
Compositional biasi668 – 730Arg-richAdd BLAST63
Compositional biasi779 – 784Poly-Ser6

Sequence similaritiesi

Belongs to the prickle / espinas / testin family.Curated
Contains 3 LIM zinc-binding domains.PROSITE-ProRule annotation
Contains 1 PET domain.PROSITE-ProRule annotation

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

eggNOGiKOG1704. Eukaryota.
ENOG410XP0W. LUCA.
GeneTreeiENSGT00550000074438.
HOGENOMiHOG000290649.
HOVERGENiHBG053679.
InParanoidiQ7Z3G6.
KOiK04511.
PhylomeDBiQ7Z3G6.
TreeFamiTF313265.

Family and domain databases

CDDicd09415. LIM1_Prickle. 1 hit.
cd09418. LIM2_Prickle. 1 hit.
cd09420. LIM3_Prickle. 1 hit.
cd09827. PET_Prickle. 1 hit.
Gene3Di2.10.110.10. 3 hits.
InterProiIPR033725. LIM1_prickle.
IPR033726. LIM2_prickle.
IPR033727. LIM3_prickle.
IPR010442. PET_domain.
IPR033723. PET_prickle.
IPR001781. Znf_LIM.
[Graphical view]
PfamiPF00412. LIM. 3 hits.
PF06297. PET. 1 hit.
[Graphical view]
SMARTiSM00132. LIM. 3 hits.
[Graphical view]
PROSITEiPS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS51303. PET. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q7Z3G6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVTVMPLEME KTISKLMFDF QRNSTSDDDS GCALEEYAWV PPGLKPEQVH
60 70 80 90 100
QYYSCLPEEK VPYVNSPGEK LRIKQLLHQL PPHDNEVRYC NSLDEEEKRE
110 120 130 140 150
LKLFSSQRKR ENLGRGNVRP FPVTMTGAIC EQCGGQINGG DIAVFASRAG
160 170 180 190 200
HGVCWHPPCF VCTVCNELLV DLIYFYQDGK IYCGRHHAEC LKPRCAACDE
210 220 230 240 250
IIFADECTEA EGRHWHMKHF CCFECETVLG GQRYIMKEGR PYCCHCFESL
260 270 280 290 300
YAEYCDTCAQ HIGIDQGQMT YDGQHWHATE TCFCCAHCKK SLLGRPFLPK
310 320 330 340 350
QGQIFCSRAC SAGEDPNGSD SSDSAFQNAR AKESRRSAKI GKNKGKTEEP
360 370 380 390 400
MLNQHSQLQV SSNRLSADVD PLSLQMDMLS LSSQTPSLNR DPIWRSREEP
410 420 430 440 450
YHYGNKMEQN QTQSPLQLLS QCNIRTSYSP GGQGAGAQPE MWGKHFSNPK
460 470 480 490 500
RSSSLAMTGH AGSFIKECRE DYYPGRLRSQ ESYSDMSSQS FSETRGSIQV
510 520 530 540 550
PKYEEEEEEE GGLSTQQCRT RHPISSLKYT EDMTPTEQTP RGSMESLALS
560 570 580 590 600
NATGLSADGG AKRQEHLSRF SMPDLSKDSG MNVSEKLSNM GTLNSSMQFR
610 620 630 640 650
SAESVRSLLS AQQYQEMEGN LHQLSNPIGY RDLQSHGRMH QSFDFDGGMA
660 670 680 690 700
GSKLPGQEGV RIQPMSERTR RRATSRDDNR RFRPHRSRRS RRSRSDNALH
710 720 730 740 750
LASEREAISR LKDRPPLRAR EDYDQFMRQR SFQESMGHGS RRDLYGQCPR
760 770 780 790 800
TVSDLALQNA FGDRWGPYFA EYDWCSTCSS SSESDNEGYF LGEPIPQPAR
810 820 830 840
LRYVTSDELL HKYSSYGLPK SSTLGGRGQL HSRKRQKSKN CIIS
Length:844
Mass (Da):95,615
Last modified:February 1, 2005 - v2
Checksum:iF6BFA6524734B4E7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065582148R → H in SCAE; unknown pathological significance; results in increased protein activity when associated with Ile-153; less active in stimulating calcium release when associated with Ile-153. 1 PublicationCorresponds to variant rs387906988dbSNPEnsembl.1
Natural variantiVAR_065583153V → I in SCAE; unknown pathological significance; results in increased protein activity when associated with His-148; less active in stimulating calcium release when associated with His-148. 1 PublicationCorresponds to variant rs139747674dbSNPEnsembl.1
Natural variantiVAR_065584605V → F in SCAE; unknown pathological significance; results in decreased protein activity; less active in stimulating calcium release compared to wild-type. 1 PublicationCorresponds to variant rs387906989dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833539 mRNA. No translation available.
BX537915 mRNA. Translation: CAD97898.1.
BC119002 mRNA. Translation: AAI19003.1.
CCDSiCCDS2902.1.
RefSeqiNP_942559.1. NM_198859.3.
XP_016861287.1. XM_017005798.1.
UniGeneiHs.148105.

Genome annotation databases

EnsembliENST00000295902; ENSP00000295902; ENSG00000163637.
GeneIDi166336.
KEGGihsa:166336.
UCSCiuc003dmf.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833539 mRNA. No translation available.
BX537915 mRNA. Translation: CAD97898.1.
BC119002 mRNA. Translation: AAI19003.1.
CCDSiCCDS2902.1.
RefSeqiNP_942559.1. NM_198859.3.
XP_016861287.1. XM_017005798.1.
UniGeneiHs.148105.

3D structure databases

ProteinModelPortaliQ7Z3G6.
SMRiQ7Z3G6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127925. 13 interactors.
IntActiQ7Z3G6. 2 interactors.
MINTiMINT-6777790.
STRINGi9606.ENSP00000295902.

PTM databases

iPTMnetiQ7Z3G6.
PhosphoSitePlusiQ7Z3G6.

Polymorphism and mutation databases

BioMutaiPRICKLE2.
DMDMi85701877.

Proteomic databases

EPDiQ7Z3G6.
MaxQBiQ7Z3G6.
PaxDbiQ7Z3G6.
PeptideAtlasiQ7Z3G6.
PRIDEiQ7Z3G6.

Protocols and materials databases

DNASUi166336.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295902; ENSP00000295902; ENSG00000163637.
GeneIDi166336.
KEGGihsa:166336.
UCSCiuc003dmf.4. human.

Organism-specific databases

CTDi166336.
DisGeNETi166336.
GeneCardsiPRICKLE2.
H-InvDBHIX0003421.
HIX0021600.
HGNCiHGNC:20340. PRICKLE2.
HPAiHPA035493.
MalaCardsiPRICKLE2.
MIMi607459. phenotype.
608501. gene.
neXtProtiNX_Q7Z3G6.
OpenTargetsiENSG00000163637.
Orphaneti402082. Progressive myoclonic epilepsy type 5.
PharmGKBiPA134883144.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1704. Eukaryota.
ENOG410XP0W. LUCA.
GeneTreeiENSGT00550000074438.
HOGENOMiHOG000290649.
HOVERGENiHBG053679.
InParanoidiQ7Z3G6.
KOiK04511.
PhylomeDBiQ7Z3G6.
TreeFamiTF313265.

Miscellaneous databases

ChiTaRSiPRICKLE2. human.
GenomeRNAii166336.
PROiQ7Z3G6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163637.
CleanExiHS_PRICKLE2.
ExpressionAtlasiQ7Z3G6. baseline and differential.
GenevisibleiQ7Z3G6. HS.

Family and domain databases

CDDicd09415. LIM1_Prickle. 1 hit.
cd09418. LIM2_Prickle. 1 hit.
cd09420. LIM3_Prickle. 1 hit.
cd09827. PET_Prickle. 1 hit.
Gene3Di2.10.110.10. 3 hits.
InterProiIPR033725. LIM1_prickle.
IPR033726. LIM2_prickle.
IPR033727. LIM3_prickle.
IPR010442. PET_domain.
IPR033723. PET_prickle.
IPR001781. Znf_LIM.
[Graphical view]
PfamiPF00412. LIM. 3 hits.
PF06297. PET. 1 hit.
[Graphical view]
SMARTiSM00132. LIM. 3 hits.
[Graphical view]
PROSITEiPS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS51303. PET. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPRIC2_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3G6
Secondary accession number(s): Q0VF44
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 2005
Last modified: November 2, 2016
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.