Seroatlas · Human Serome Atlas

NPRL2

GATOR1 complex protein NPRL2

Also known as: NPR2, NPR2L, NPRL2_HUMAN, TUSC4

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

Protein identityUniProt · HPA

UniProt accession
Q8WTW4
Gene
NPRL2
Ensembl
ENSG00000114388
Chromosome
3
Canonical length
380 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

Enables GTPase activator activity. Involved in cellular response to amino acid starvation; negative regulation of TORC1 signaling; and negative regulation of kinase activity. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 2. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

380 residues, UniProt reviewed canonical sequence.

>Q8WTW4|NPRL2
     1  MGSGCRIECI FFSEFHPTLG PKITYQVPED FISRELFDTV QVYIITKPEL QNKLITVTAM
    61  EKKLIGCPVC IEHKKYSRNA LLFNLGFVCD AQAKTCALEP IVKKLAGYLT TLELESSFVS
   121  MEESKQKLVP IMTILLEELN ASGRCTLPID ESNTIHLKVI EQRPDPPVAQ EYDVPVFTKD
   181  KEDFFNSQWD LTTQQILPYI DGFRHIQKIS AEADVELNLV RIAIQNLLYY GVVTLVSILQ
   241  YSNVYCPTPK VQDLVDDKSL QEACLSYVTK QGHKRASLRD VFQLYCSLSP GTTVRDLIGR
   301  HPQQLQHVDE RKLIQFGLMK NLIRRLQKYP VRVTREEQSH PARLYTGCHS YDEICCKTGM
   361  SYHELDERLE NDPNIIICWK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NPRL2 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
19 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 19 nTPM
  • tongue: 17 nTPM
  • skeletal muscle: 16 nTPM
  • liver: 12 nTPM
  • choroid plexus: 12 nTPM
  • parathyroid gland: 11 nTPM

Single-cell type

  • late spermatids: 93 nCPM
  • early spermatids: 91 nCPM
  • late primary spermatocytes: 66 nCPM
  • breast lactating cells: 39 nCPM
  • oocytes: 37 nCPM
  • cytotrophoblasts: 33 nCPM

Immune cell

  • gdT-cell: 73 nTPM
  • NK-cell: 64 nTPM
  • MAIT T-cell: 64 nTPM
  • memory CD8 T-cell: 63 nTPM
  • total PBMC: 51 nTPM
  • T-reg: 50 nTPM

Brain region

  • hypothalamus: 11 nTPM
  • midbrain: 10 nTPM
  • white matter: 9 nTPM
  • pons: 8.7 nTPM
  • spinal cord: 8.6 nTPM
  • cerebellum: 8.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NPRL2.

Disease | AllUniProt

Conditions NPRL2 is implicated in, by any mechanism.

  • Epilepsy, familial focal, with variable foci 2 (FFEVF2) MIM:617116

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 167 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.47
gnomAD pLI
0.39
gnomAD missense Z
1.64
DepMap mean gene effect
0.06
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

  • Nitrogen permease regulator 2-like
  • Nitrogen permease regulator 2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NPRL2 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 NPRL2 as an antibody target. Whether an autoantibody or antibody against NPRL2 could matter depends on whether native NPRL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NPRL2 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 NPRL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NPRL2. 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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