Seroatlas · Human Serome Atlas

SNF8

Vacuolar-sorting protein SNF8

Also known as: Dot3, EAP30, SNF8_HUMAN, VPS22

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

Protein identityUniProt · HPA

UniProt accession
Q96H20
Gene
SNF8
Ensembl
ENSG00000159210
Chromosome
17
Canonical length
258 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

Canonical amino-acid sequenceUniProt

258 residues, UniProt reviewed canonical sequence.

>Q96H20|SNF8
     1  MHRRGVGAGA IAKKKLAEAK YKERGTVLAE DQLAQMSKQL DMFKTNLEEF ASKHKQEIRK
    61  NPEFRVQFQD MCATIGVDPL ASGKGFWSEM LGVGDFYYEL GVQIIEVCLA LKHRNGGLIT
   121  LEELHQQVLK GRGKFAQDVS QDDLIRAIKK LKALGTGFGI IPVGGTYLIQ SVPAELNMDH
   181  TVVLQLAEKN GYVTVSEIKA SLKWETERAR QVLEHLLKEG LAWLDLQAPG EAHYWLPALF
   241  TDLYSQEITA EEAREALP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SNF8 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)
0.33
Highest tissue expression
46 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 46 nTPM
  • tongue: 45 nTPM
  • heart muscle: 42 nTPM
  • kidney: 38 nTPM
  • choroid plexus: 37 nTPM
  • blood vessel: 34 nTPM

Single-cell type

  • late spermatids: 481 nCPM
  • extravillous trophoblasts: 221 nCPM
  • esophageal suprabasal cells: 196 nCPM
  • epididymal principal cells: 179 nCPM
  • esophageal basal cells: 176 nCPM
  • hofbauer cells: 170 nCPM

Immune cell

  • eosinophil: 9.3 nTPM
  • plasmacytoid DC: 6.4 nTPM
  • non-classical monocyte: 5.7 nTPM
  • naive B-cell: 5.6 nTPM
  • intermediate monocyte: 5 nTPM
  • myeloid DC: 5 nTPM

Brain region

  • white matter: 24 nTPM
  • basal ganglia: 20 nTPM
  • pons: 18 nTPM
  • midbrain: 18 nTPM
  • medulla oblongata: 18 nTPM
  • cerebellum: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SNF8.

Disease | AllUniProt

Conditions SNF8 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 115 (DEE115) MIM:620783
  • Neurodevelopmental disorder plus optic atrophy (NEDOA) MIM:620784

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 51 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • SNF8-associated disease
  • Developmental and epileptic encephalopathy 115
  • Neurodevelopmental disorder plus optic atrophy

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)
0.88
gnomAD pLI
0
gnomAD missense Z
1.13
DepMap mean gene effect
-0.97
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 SNF8 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 SNF8 as an antibody target. Whether an autoantibody or antibody against SNF8 could matter depends on whether native SNF8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SNF8 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 SNF8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SNF8. 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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