Seroatlas · Human Serome Atlas

ERLIN2

Erlin-2

Also known as: C8orf2, Erlin-2, ERLN2_HUMAN, NET32, SPFH2, SPG18

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

Protein identityUniProt · HPA

UniProt accession: O94905
Gene: ERLIN2
Ensembl: ENSG00000147475
Chromosome: 8
Canonical length: 339 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Endoplasmic reticulum
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

339 residues, UniProt reviewed canonical sequence.

>O94905|ERLIN2
     1  MAQLGAVVAV ASSFFCASLF SAVHKIEEGH IGVYYRGGAL LTSTSGPGFH LMLPFITSYK
    61  SVQTTLQTDE VKNVPCGTSG GVMIYFDRIE VVNFLVPNAV YDIVKNYTAD YDKALIFNKI
   121  HHELNQFCSV HTLQEVYIEL FDQIDENLKL ALQQDLTSMA PGLVIQAVRV TKPNIPEAIR
   181  RNYELMESEK TKLLIAAQKQ KVVEKEAETE RKKALIEAEK VAQVAEITYG QKVMEKETEK
   241  KISEIEDAAF LAREKAKADA ECYTAMKIAE ANKLKLTPEY LQLMKYKAIA SNSKIYFGKD
   301  IPNMFMDSAG SVSKQFEGLA DKLSFGLEDE PLETATKEN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERLIN2 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: 1
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 44 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 44 nTPM
parathyroid gland: 39 nTPM
liver: 38 nTPM
kidney: 38 nTPM
epididymis: 31 nTPM
fallopian tube: 28 nTPM

Single-cell type

fallopian tube ciliated cells: 75 nCPM
prostatic glandular cells: 73 nCPM
gastric chief cells: 54 nCPM
ependymal cells: 53 nCPM
parietal cells: 51 nCPM
early primary spermatocytes: 50 nCPM

Immune cell

eosinophil: 14 nTPM
non-classical monocyte: 9.7 nTPM
plasmacytoid DC: 7.6 nTPM
intermediate monocyte: 7 nTPM
classical monocyte: 6.5 nTPM
neutrophil: 6.1 nTPM

Brain region

choroid plexus: 49 nTPM
midbrain: 31 nTPM
medulla oblongata: 30 nTPM
spinal cord: 30 nTPM
white matter: 30 nTPM
basal ganglia: 28 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERLIN2.

Disease | AllUniProt

Conditions ERLIN2 is implicated in, by any mechanism.

Spastic paraplegia 18B, autosomal recessive (SPG18B) MIM:611225
Spastic paraplegia 18A, autosomal dominant (SPG18A) MIM:620512

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 226 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spastic paraplegia
Hereditary spastic paraplegia 18
Spastic paraplegia 18a, autosomal dominant
Hereditary spastic paraplegia
Spastic paraplegia 18b, autosomal recessive

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): 0.83
gnomAD pLI: 0
gnomAD missense Z: 1.88
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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 ERLIN2 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 ERLIN2 as an antibody target. Whether an autoantibody or antibody against ERLIN2 could matter depends on whether native ERLIN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERLIN2 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 ERLIN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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