PRIC2_HUMAN
ID PRIC2_HUMAN Reviewed; 844 AA.
AC Q7Z3G6; Q0VF44;
DT 01-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-2005, sequence version 2.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Prickle-like protein 2;
DE Flags: Precursor;
GN Name=PRICKLE2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cervix;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=12525887;
RA Katoh M., Katoh M.;
RT "Identification and characterization of human PRICKLE1 and PRICKLE2 genes
RT as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila
RT tissue polarity gene prickle.";
RL Int. J. Mol. Med. 11:249-256(2003).
RN [4]
RP ISOPRENYLATION AT CYS-841.
RX PubMed=17411337; DOI=10.1371/journal.pcbi.0030066;
RA Maurer-Stroh S., Koranda M., Benetka W., Schneider G., Sirota F.L.,
RA Eisenhaber F.;
RT "Towards complete sets of farnesylated and geranylgeranylated proteins.";
RL PLoS Comput. Biol. 3:634-648(2007).
RN [5]
RP PROBABLE INVOLVEMENT IN MYOCLONIC EPILEPSY, VARIANTS HIS-148; ILE-153 AND
RP PHE-605, AND CHARACTERIZATION OF VARIANTS HIS-148; ILE-153 AND PHE-605.
RX PubMed=21276947; DOI=10.1016/j.ajhg.2010.12.012;
RA Tao H., Manak J.R., Sowers L., Mei X., Kiyonari H., Abe T., Dahdaleh N.S.,
RA Yang T., Wu S., Chen S., Fox M.H., Gurnett C., Montine T., Bird T.,
RA Shaffer L.G., Rosenfeld J.A., McConnell J., Madan-Khetarpal S.,
RA Berry-Kravis E., Griesbach H., Saneto R.P., Scott M.P., Antic D., Reed J.,
RA Boland R., Ehaideb S.N., El-Shanti H., Mahajan V.B., Ferguson P.J.,
RA Axelrod J.D., Lehesjoki A.E., Fritzsch B., Slusarski D.C., Wemmie J.,
RA Ueno N., Bassuk A.G.;
RT "Mutations in prickle orthologs cause seizures in flies, mice, and
RT humans.";
RL Am. J. Hum. Genet. 88:138-149(2011).
RN [6]
RP LACK OF INVOLVEMENT IN MYOCLONIC EPILEPSY.
RX PubMed=26942291; DOI=10.1016/j.ajhg.2016.01.009;
RA Sandford E., Bird T.D., Li J.Z., Burmeister M.;
RT "PRICKLE2 mutations might not be involved in epilepsy.";
RL Am. J. Hum. Genet. 98:588-589(2016).
RN [7]
RP PROBABLE INVOLVEMENT IN MYOCLONIC EPILEPSY.
RX PubMed=26942292; DOI=10.1016/j.ajhg.2016.02.002;
RA Mahajan V.B., Bassuk A.G.;
RT "Response to Sandford et al.: PRICKLE2 variants in epilepsy: A call for
RT precision medicine.";
RL Am. J. Hum. Genet. 98:590-591(2016).
CC -!- SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in brain, eye and testis. Additionally in
CC fetal brain, adult cartilage, pancreatic islet, gastric cancer and
CC uterus tumors. {ECO:0000269|PubMed:12525887}.
CC -!- DISEASE: Note=PRICKLE2 mutations have been found in patients with
CC myoclonic epilepsy but involvement of this gene in pathogenesis is
CC under debate since some of the patients also carry POLG mutations.
CC {ECO:0000269|PubMed:21276947, ECO:0000269|PubMed:26942291,
CC ECO:0000269|PubMed:26942292}.
CC -!- SIMILARITY: Belongs to the prickle / espinas / testin family.
CC {ECO:0000305}.
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DR EMBL; AL833539; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BX537915; CAD97898.1; -; mRNA.
DR EMBL; BC119002; AAI19003.1; -; mRNA.
DR CCDS; CCDS2902.1; -.
DR RefSeq; NP_942559.1; NM_198859.3.
DR RefSeq; XP_016861287.1; XM_017005798.1.
DR AlphaFoldDB; Q7Z3G6; -.
DR SMR; Q7Z3G6; -.
DR BioGRID; 127925; 15.
DR IntAct; Q7Z3G6; 2.
DR MINT; Q7Z3G6; -.
DR STRING; 9606.ENSP00000295902; -.
DR GlyConnect; 1625; 1 N-Linked glycan (1 site).
DR GlyGen; Q7Z3G6; 1 site, 1 N-linked glycan (1 site).
DR iPTMnet; Q7Z3G6; -.
DR PhosphoSitePlus; Q7Z3G6; -.
DR BioMuta; PRICKLE2; -.
DR DMDM; 85701877; -.
DR EPD; Q7Z3G6; -.
DR jPOST; Q7Z3G6; -.
DR MassIVE; Q7Z3G6; -.
DR MaxQB; Q7Z3G6; -.
DR PaxDb; Q7Z3G6; -.
DR PeptideAtlas; Q7Z3G6; -.
DR PRIDE; Q7Z3G6; -.
DR ProteomicsDB; 69046; -.
DR Antibodypedia; 50866; 76 antibodies from 20 providers.
DR DNASU; 166336; -.
DR Ensembl; ENST00000564377.6; ENSP00000455004.2; ENSG00000163637.13.
DR Ensembl; ENST00000638394.2; ENSP00000492363.1; ENSG00000163637.13.
DR GeneID; 166336; -.
DR KEGG; hsa:166336; -.
DR MANE-Select; ENST00000638394.2; ENSP00000492363.1; NM_198859.4; NP_942559.1.
DR UCSC; uc003dmf.4; human.
DR CTD; 166336; -.
DR DisGeNET; 166336; -.
DR GeneCards; PRICKLE2; -.
DR HGNC; HGNC:20340; PRICKLE2.
DR HPA; ENSG00000163637; Low tissue specificity.
DR MalaCards; PRICKLE2; -.
DR MIM; 608501; gene.
DR neXtProt; NX_Q7Z3G6; -.
DR OpenTargets; ENSG00000163637; -.
DR Orphanet; 178469; Autosomal dominant non-syndromic intellectual disability.
DR Orphanet; 402082; Progressive myoclonic epilepsy type 5.
DR PharmGKB; PA134883144; -.
DR VEuPathDB; HostDB:ENSG00000163637; -.
DR eggNOG; KOG1704; Eukaryota.
DR GeneTree; ENSGT00940000153629; -.
DR HOGENOM; CLU_008937_5_0_1; -.
DR InParanoid; Q7Z3G6; -.
DR OMA; LHQSFDF; -.
DR OrthoDB; 997264at2759; -.
DR PhylomeDB; Q7Z3G6; -.
DR TreeFam; TF313265; -.
DR PathwayCommons; Q7Z3G6; -.
DR SignaLink; Q7Z3G6; -.
DR BioGRID-ORCS; 166336; 11 hits in 1074 CRISPR screens.
DR ChiTaRS; PRICKLE2; human.
DR GenomeRNAi; 166336; -.
DR Pharos; Q7Z3G6; Tbio.
DR PRO; PR:Q7Z3G6; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q7Z3G6; protein.
DR Bgee; ENSG00000163637; Expressed in oviduct epithelium and 169 other tissues.
DR ExpressionAtlas; Q7Z3G6; baseline and differential.
DR Genevisible; Q7Z3G6; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0031965; C:nuclear membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0060071; P:Wnt signaling pathway, planar cell polarity pathway; NAS:ParkinsonsUK-UCL.
DR CDD; cd09415; LIM1_Prickle; 1.
DR CDD; cd09418; LIM2_Prickle; 1.
DR CDD; cd09420; LIM3_Prickle; 1.
DR CDD; cd09827; PET_Prickle; 1.
DR InterPro; IPR033725; LIM1_prickle.
DR InterPro; IPR033726; LIM2_prickle.
DR InterPro; IPR033727; LIM3_prickle.
DR InterPro; IPR010442; PET_domain.
DR InterPro; IPR033723; PET_prickle.
DR InterPro; IPR001781; Znf_LIM.
DR Pfam; PF00412; LIM; 3.
DR Pfam; PF06297; PET; 1.
DR SMART; SM00132; LIM; 3.
DR PROSITE; PS00478; LIM_DOMAIN_1; 2.
DR PROSITE; PS50023; LIM_DOMAIN_2; 3.
DR PROSITE; PS51303; PET; 1.
PE 1: Evidence at protein level;
KW Disease variant; Epilepsy; LIM domain; Lipoprotein; Membrane;
KW Metal-binding; Methylation; Neurodegeneration; Neuropathy; Nucleus;
KW Phosphoprotein; Prenylation; Reference proteome; Repeat; Zinc.
FT CHAIN 1..841
FT /note="Prickle-like protein 2"
FT /id="PRO_0000075891"
FT PROPEP 842..844
FT /note="Removed in mature form"
FT /evidence="ECO:0000305"
FT /id="PRO_0000396718"
FT DOMAIN 18..126
FT /note="PET"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00636"
FT DOMAIN 128..193
FT /note="LIM zinc-binding 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT DOMAIN 193..253
FT /note="LIM zinc-binding 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT DOMAIN 253..317
FT /note="LIM zinc-binding 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT REGION 314..350
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 481..519
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 639..709
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 822..844
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 314..328
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 329..349
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 481..497
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 664..681
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 694..709
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 92
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 319
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 321
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 322
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 534
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 536
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 539
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 543
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 546
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 607
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 642
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 731
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80Y24"
FT MOD_RES 841
FT /note="Cysteine methyl ester"
FT /evidence="ECO:0000305"
FT LIPID 841
FT /note="S-farnesyl cysteine"
FT /evidence="ECO:0000269|PubMed:17411337"
FT VARIANT 148
FT /note="R -> H (found in patients with severe progressive
FT myoclonic epilepsy; unknown pathological significance;
FT results in increased protein activity when associated with
FT I-153; less active in stimulating calcium release when
FT associated with I-153; dbSNP:rs387906988)"
FT /evidence="ECO:0000269|PubMed:21276947"
FT /id="VAR_065582"
FT VARIANT 153
FT /note="V -> I (found in patients with severe progressive
FT myoclonic epilepsy; unknown pathological significance;
FT results in increased protein activity when associated with
FT H-148; less active in stimulating calcium release when
FT associated with H-148; dbSNP:rs139747674)"
FT /evidence="ECO:0000269|PubMed:21276947"
FT /id="VAR_065583"
FT VARIANT 605
FT /note="V -> F (found in a patient with myoclonic epilepsy;
FT unknown pathological significance; results in decreased
FT protein activity; less active in stimulating calcium
FT release compared to wild-type; dbSNP:rs387906989)"
FT /evidence="ECO:0000269|PubMed:21276947"
FT /id="VAR_065584"
SQ SEQUENCE 844 AA; 95615 MW; F6BFA6524734B4E7 CRC64;
MVTVMPLEME KTISKLMFDF QRNSTSDDDS GCALEEYAWV PPGLKPEQVH QYYSCLPEEK
VPYVNSPGEK LRIKQLLHQL PPHDNEVRYC NSLDEEEKRE LKLFSSQRKR ENLGRGNVRP
FPVTMTGAIC EQCGGQINGG DIAVFASRAG HGVCWHPPCF VCTVCNELLV DLIYFYQDGK
IYCGRHHAEC LKPRCAACDE IIFADECTEA EGRHWHMKHF CCFECETVLG GQRYIMKEGR
PYCCHCFESL YAEYCDTCAQ HIGIDQGQMT YDGQHWHATE TCFCCAHCKK SLLGRPFLPK
QGQIFCSRAC SAGEDPNGSD SSDSAFQNAR AKESRRSAKI GKNKGKTEEP MLNQHSQLQV
SSNRLSADVD PLSLQMDMLS LSSQTPSLNR DPIWRSREEP YHYGNKMEQN QTQSPLQLLS
QCNIRTSYSP GGQGAGAQPE MWGKHFSNPK RSSSLAMTGH AGSFIKECRE DYYPGRLRSQ
ESYSDMSSQS FSETRGSIQV PKYEEEEEEE GGLSTQQCRT RHPISSLKYT EDMTPTEQTP
RGSMESLALS NATGLSADGG AKRQEHLSRF SMPDLSKDSG MNVSEKLSNM GTLNSSMQFR
SAESVRSLLS AQQYQEMEGN LHQLSNPIGY RDLQSHGRMH QSFDFDGGMA GSKLPGQEGV
RIQPMSERTR RRATSRDDNR RFRPHRSRRS RRSRSDNALH LASEREAISR LKDRPPLRAR
EDYDQFMRQR SFQESMGHGS RRDLYGQCPR TVSDLALQNA FGDRWGPYFA EYDWCSTCSS
SSESDNEGYF LGEPIPQPAR LRYVTSDELL HKYSSYGLPK SSTLGGRGQL HSRKRQKSKN
CIIS
