Seroatlas · Human Serome Atlas

GOSR2

Golgi SNAP receptor complex member 2

Also known as: Bos1, GOSR2_HUMAN, GS27

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

Protein identityUniProt · HPA

UniProt accession
O14653
Gene
GOSR2
Ensembl
ENSG00000108433
Chromosome
17
Canonical length
212 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

212 residues, UniProt reviewed canonical sequence.

>O14653|GOSR2
     1  MDPLFQQTHK QVHEIQSCMG RLETADKQSV HIVENEIQAS IDQIFSRLER LEILSSKEPP
    61  NKRQNARLRV DQLKYDVQHL QTALRNFQHR RHAREQQERQ REELLSRTFT TNDSDTTIPM
   121  DESLQFNSSL QKVHNGMDDL ILDGHNILDG LRTQRLTLKG TQKKILDIAN MLGLSNTVMR
   181  LIEKRAFQDK YFMIGGMLLT CVVMFLVVQY LT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GOSR2 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)
0.44
Highest tissue expression
47 nTPM

Expression across tissuesHPA

Tissue

  • duodenum: 47 nTPM
  • testis: 46 nTPM
  • skeletal muscle: 41 nTPM
  • small intestine: 41 nTPM
  • kidney: 39 nTPM
  • pituitary gland: 35 nTPM

Single-cell type

  • late spermatids: 147 nCPM
  • choroid plexus epithelial cells: 53 nCPM
  • early spermatids: 52 nCPM
  • oligodendrocytes: 40 nCPM
  • brain inhibitory neurons: 38 nCPM
  • brain excitatory neurons: 36 nCPM

Immune cell

  • non-classical monocyte: 87 nTPM
  • intermediate monocyte: 63 nTPM
  • basophil: 40 nTPM
  • T-reg: 39 nTPM
  • naive B-cell: 39 nTPM
  • total PBMC: 35 nTPM

Brain region

  • choroid plexus: 56 nTPM
  • cerebral cortex: 53 nTPM
  • cerebellum: 52 nTPM
  • midbrain: 50 nTPM
  • white matter: 50 nTPM
  • thalamus: 50 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GOSR2.

Disease | AllUniProt

Conditions GOSR2 is implicated in, by any mechanism.

  • Epilepsy, progressive myoclonic 6 (EPM6) MIM:614018
  • Muscular dystrophy, congenital, with or without seizures (MYOS) MIM:620166

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 338 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)
1.35
gnomAD pLI
0
gnomAD missense Z
-0.49
DepMap mean gene effect
-0.88
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 GOSR2 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 GOSR2 as an antibody target. Whether an autoantibody or antibody against GOSR2 could matter depends on whether native GOSR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GOSR2 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 GOSR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GOSR2. 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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