Seroatlas · Human Serome Atlas

RTN2

Reticulon-2

Also known as: NSP2, NSPL1, RTN2_HUMAN, SPG12

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

Protein identityUniProt · HPA

UniProt accession: O75298
Gene: RTN2
Ensembl: ENSG00000125744
Chromosome: 19
Canonical length: 545 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location: Vesicles

OverviewNCBI Gene

This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an important role in the replication of positive-strand RNA (ssRNA) viruses. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Aug 2020]

Canonical amino-acid sequenceUniProt

545 residues, UniProt reviewed canonical sequence.

>O75298|RTN2
     1  MGQVLPVFAH CKEAPSTASS TPDSTEGGND DSDFRELHTA REFSEEDEEE TTSQDWGTPR
    61  ELTFSYIAFD GVVGSGGRRD STARRPRPQG RSVSEPRDQH PQPSLGDSLE SIPSLSQSPE
   121  PGRRGDPDTA PPSERPLEDL RLRLDHLGWV ARGTGSGEDS STSSSTPLED EEPQEPNRLE
   181  TGEAGEELDL RLRLAQPSSP EVLTPQLSPG SGTPQAGTPS PSRSRDSNSG PEEPLLEEEE
   241  KQWGPLEREP VRGQCLDSTD QLEFTVEPRL LGTAMEWLKT SLLLAVYKTV PILELSPPLW
   301  TAIGWVQRGP TPPTPVLRVL LKWAKSPRSS GVPSLSLGAD MGSKVADLLY WKDTRTSGVV
   361  FTGLMVSLLC LLHFSIVSVA AHLALLLLCG TISLRVYRKV LQAVHRGDGA NPFQAYLDVD
   421  LTLTREQTER LSHQITSRVV SAATQLRHFF LVEDLVDSLK LALLFYILTF VGAIFNGLTL
   481  LILGVIGLFT IPLLYRQHQA QIDQYVGLVT NQLSHIKAKI RAKIPGTGAL ASAAAAVSGS
   541  KAKAE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RTN2 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: 2
Mean surface accessibility (rSASA): 0.62
Highest tissue expression: 478 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 478 nTPM
tongue: 194 nTPM
cerebral cortex: 48 nTPM
basal ganglia: 34 nTPM
hippocampal formation: 34 nTPM
amygdala: 30 nTPM

Single-cell type

extravillous trophoblasts: 218 nCPM
cytotrophoblasts: 167 nCPM
platelets: 139 nCPM
syncytiotrophoblasts: 138 nCPM
migrating cytotrophoblasts: 126 nCPM
myonuclei: 107 nCPM

Immune cell

basophil: 6.2 nTPM
eosinophil: 2.6 nTPM
plasmacytoid DC: 1.6 nTPM
neutrophil: 0.6 nTPM
intermediate monocyte: 0.3 nTPM
non-classical monocyte: 0.3 nTPM

Brain region

cerebral cortex: 77 nTPM
white matter: 46 nTPM
pons: 44 nTPM
basal ganglia: 40 nTPM
thalamus: 40 nTPM
medulla oblongata: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RTN2.

Disease | AllUniProt

Conditions RTN2 is implicated in, by any mechanism.

Spastic paraplegia 12, autosomal dominant (SPG12) MIM:604805
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity (HMNR11) MIM:620854

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 354 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spastic paraplegia
Hereditary spastic paraplegia 12
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
Thyroid cancer, nonmedullary, 1

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): 0.42
gnomAD pLI: 0.42
gnomAD missense Z: 0.7
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RTN2 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 RTN2 as an antibody target. Whether an autoantibody or antibody against RTN2 could matter depends on whether native RTN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RTN2 is annotated at the cell surface, where native RTN2 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 RTN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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