Seroatlas · Human Serome Atlas

PRICKLE2

Prickle-like protein 2

Also known as: DKFZp686D143, PRIC2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q7Z3G6
Gene: PRICKLE2
Ensembl: ENSG00000163637
Chromosome: 3
Canonical length: 844 aa
Protein class: Disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Vesicles

OverviewNCBI 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 5. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

844 residues, UniProt reviewed canonical sequence.

>Q7Z3G6|PRICKLE2
     1  MVTVMPLEME KTISKLMFDF QRNSTSDDDS GCALEEYAWV PPGLKPEQVH QYYSCLPEEK
    61  VPYVNSPGEK LRIKQLLHQL PPHDNEVRYC NSLDEEEKRE LKLFSSQRKR ENLGRGNVRP
   121  FPVTMTGAIC EQCGGQINGG DIAVFASRAG HGVCWHPPCF VCTVCNELLV DLIYFYQDGK
   181  IYCGRHHAEC LKPRCAACDE IIFADECTEA EGRHWHMKHF CCFECETVLG GQRYIMKEGR
   241  PYCCHCFESL YAEYCDTCAQ HIGIDQGQMT YDGQHWHATE TCFCCAHCKK SLLGRPFLPK
   301  QGQIFCSRAC SAGEDPNGSD SSDSAFQNAR AKESRRSAKI GKNKGKTEEP MLNQHSQLQV
   361  SSNRLSADVD PLSLQMDMLS LSSQTPSLNR DPIWRSREEP YHYGNKMEQN QTQSPLQLLS
   421  QCNIRTSYSP GGQGAGAQPE MWGKHFSNPK RSSSLAMTGH AGSFIKECRE DYYPGRLRSQ
   481  ESYSDMSSQS FSETRGSIQV PKYEEEEEEE GGLSTQQCRT RHPISSLKYT EDMTPTEQTP
   541  RGSMESLALS NATGLSADGG AKRQEHLSRF SMPDLSKDSG MNVSEKLSNM GTLNSSMQFR
   601  SAESVRSLLS AQQYQEMEGN LHQLSNPIGY RDLQSHGRMH QSFDFDGGMA GSKLPGQEGV
   661  RIQPMSERTR RRATSRDDNR RFRPHRSRRS RRSRSDNALH LASEREAISR LKDRPPLRAR
   721  EDYDQFMRQR SFQESMGHGS RRDLYGQCPR TVSDLALQNA FGDRWGPYFA EYDWCSTCSS
   781  SSESDNEGYF LGEPIPQPAR LRYVTSDELL HKYSSYGLPK SSTLGGRGQL HSRKRQKSKN
   841  CIIS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRICKLE2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.56
Highest tissue expression: 20 nTPM

Expression across tissuesHPA

Tissue

adipose tissue: 20 nTPM
colon: 17 nTPM
endometrium: 16 nTPM
smooth muscle: 16 nTPM
cervix: 15 nTPM
cerebral cortex: 15 nTPM

Single-cell type

pituicytes/fscs: 1,663 nCPM
choroid plexus epithelial cells: 1,444 nCPM
adipocytes: 640 nCPM
ependymal cells: 602 nCPM
respiratory ciliated cells: 488 nCPM
distal convoluted tubule cells: 472 nCPM

Immune cell

memory B-cell: 0.3 nTPM
NK-cell: 0.2 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

hippocampal formation: 74 nTPM
cerebral cortex: 47 nTPM
basal ganglia: 44 nTPM
thalamus: 39 nTPM
hypothalamus: 35 nTPM
amygdala: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRICKLE2.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 676 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

See cases
Progressive myoclonic epilepsy type 5

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.28
gnomAD pLI: 1
gnomAD missense Z: 1.72
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

zinc ion binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PRICKLE2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PRICKLE2 as an antibody target. Whether an autoantibody or antibody against PRICKLE2 could matter depends on whether native PRICKLE2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRICKLE2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PRICKLE2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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