Seroatlas · Human Serome Atlas

RAC2

Ras-related C3 botulinum toxin substrate 2

Also known as: EN-7, RAC2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P15153
Gene
RAC2
Ensembl
ENSG00000128340
Chromosome
22
Canonical length
192 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, RAS pathway related proteins

OverviewNCBI Gene

This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

192 residues, UniProt reviewed canonical sequence.

>P15153|RAC2
     1  MQAIKCVVVG DGAVGKTCLL ISYTTNAFPG EYIPTVFDNY SANVMVDSKP VNLGLWDTAG
    61  QEDYDRLRPL SYPQTDVFLI CFSLVSPASY ENVRAKWFPE VRHHCPSTPI ILVGTKLDLR
   121  DDKDTIEKLK EKKLAPITYP QGLALAKEID SVKYLECSAL TQRGLKTVFD EAIRAVLCPQ
   181  PTRQQKRACS LL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAC2 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)
0.3
Highest tissue expression
389 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 389 nTPM
  • lymph node: 363 nTPM
  • thymus: 302 nTPM
  • tonsil: 290 nTPM
  • spleen: 285 nTPM
  • appendix: 195 nTPM

Single-cell type

  • neutrophils: 768 nCPM
  • mast cells: 463 nCPM
  • neutrophil progenitors: 399 nCPM
  • megakaryocytes: 321 nCPM
  • nk-cells: 320 nCPM
  • t-cells: 246 nCPM

Immune cell

  • eosinophil: 1,596 nTPM
  • total PBMC: 1,551 nTPM
  • neutrophil: 1,332 nTPM
  • basophil: 1,316 nTPM
  • T-reg: 1,159 nTPM
  • NK-cell: 968 nTPM

Brain region

  • cerebral cortex: 12 nTPM
  • white matter: 11 nTPM
  • pons: 10 nTPM
  • medulla oblongata: 9 nTPM
  • thalamus: 8.4 nTPM
  • spinal cord: 7.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAC2.

Disease | AllUniProt

Conditions RAC2 is implicated in, by any mechanism.

  • Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) MIM:608203
  • Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia (IMD73B) MIM:618986
  • Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia (IMD73C) MIM:618987

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 225 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neutrophil immunodeficiency syndrome
  • Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
  • Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia

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
0.97
gnomAD missense Z
2.59
DepMap mean gene effect
0.01
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RAC2 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 RAC2 as an antibody target. Whether an autoantibody or antibody against RAC2 could matter depends on whether native RAC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RAC2 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 RAC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RAC2. 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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