Seroatlas · Human Serome Atlas

PRRT2

Proline-rich transmembrane protein 2

Also known as: DKFZp547J199, DSPB3, DYT10, EKD1, FICCA, FLJ25513, ICCA, IFITMD1, PKC, PRRT2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q7Z6L0
Gene
PRRT2
Ensembl
ENSG00000167371
Chromosome
16
Canonical length
340 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane

OverviewNCBI Gene

This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

340 residues, UniProt reviewed canonical sequence.

>Q7Z6L0|PRRT2
     1  MAASSSEISE MKGVEESPKV PGEGPGHSEA ETGPPQVLAG VPDQPEAPQP GPNTTAAPVD
    61  SGPKAGLAPE TTETPAGASE TAQATDLSLS PGGESKANCS PEDPCQETVS KPEVSKEATA
   121  DQGSRLESAA PPEPAPEPAP QPDPRPDSQP TPKPALQPEL PTQEDPTPEI LSESVGEKQE
   181  NGAVVPLQAG DGEEGPAPEP HSPPSKKSPP ANGAPPRVLQ QLVEEDRMRR AHSGHPGSPR
   241  GSLSRHPSSQ LAGPGVEGGE GTQKPRDYII LAILSCFCPM WPVNIVAFAY AVMSRNSLQQ
   301  GDVDGAQRLG RVAKLLSIVA LVGGVLIIIA SCVINLGVYK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRRT2 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
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.68
Highest tissue expression
305 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 305 nTPM
  • cerebral cortex: 128 nTPM
  • basal ganglia: 99 nTPM
  • ovary: 89 nTPM
  • amygdala: 78 nTPM
  • hippocampal formation: 61 nTPM

Single-cell type

  • ependymal cells: 72 nCPM
  • bergmann glia: 64 nCPM
  • brain excitatory neurons: 58 nCPM
  • astrocytes: 55 nCPM
  • brain inhibitory neurons: 41 nCPM
  • other brain neurons: 29 nCPM

Immune cell

  • NK-cell: 3.3 nTPM
  • basophil: 0.4 nTPM
  • memory CD4 T-cell: 0.2 nTPM
  • eosinophil: 0.1 nTPM
  • MAIT T-cell: 0.1 nTPM
  • memory CD8 T-cell: 0.1 nTPM

Brain region

  • cerebellum: 202 nTPM
  • cerebral cortex: 185 nTPM
  • basal ganglia: 140 nTPM
  • white matter: 123 nTPM
  • amygdala: 119 nTPM
  • hypothalamus: 117 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRRT2.

Disease | AllUniProt

Conditions PRRT2 is implicated in, by any mechanism.

  • Episodic kinesigenic dyskinesia 1 (EKD1) MIM:128200
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) MIM:602066
  • Seizures, benign familial infantile, 2 (BFIS2) MIM:605751

Disease | GeneticClinVar

159 pathogenic / likely-pathogenic of 736 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on PRRT2 was assayed in.

  • pars planitis B cell

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)
0.56
gnomAD pLI
0.58
gnomAD missense Z
0.23
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PRRT2 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 PRRT2 as an antibody target. Whether an autoantibody or antibody against PRRT2 could matter depends on whether native PRRT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRRT2 is annotated at the cell surface, where native PRRT2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PRRT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PRRT2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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